Ehlers-Danlos Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

EDS MCID: EHL001 MIFTS: 57	Ehlers-Danlos Syndrome (EDS) Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ehlers-Danlos Syndrome

MalaCards integrated aliases for Ehlers-Danlos Syndrome:

Name: Ehlers-Danlos Syndrome ¹² ⁷³ ⁴³ ⁵⁸ ³⁶ ²⁹ ⁵⁴ ⁶ ⁴² ⁴⁴ ¹⁵ ⁷⁰ ³²

Eds ²⁰ ⁴³ ⁵⁸

Elastic Skin ¹² ⁵⁴

Ehlers-Danlos Syndromes ²⁰

Syndrome, Ehlers-Danlos ³⁹

Ehlers Danlos Syndrome ²⁰

Ehlers Danlos Disease ⁴³

Cutis Hyperelastica ¹²

Ed Syndrome ²⁰

Characteristics:

Orphanet epidemiological data:

⁵⁸

ehlers-danlos syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Congenital malformations of the musculoskeletal system, not elsewhere classified

Ehlers-Danlos syndrome

Orphanet: ⁵⁸

Rare systemic and rhumatological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:13359

KEGG ³⁶ H00802

ICD9CM ³⁴ 756.83

MeSH ⁴⁴ D004535

NCIt ⁵⁰ C34568

SNOMED-CT ⁶⁷ 268352002

ICD10 ³² Q79.6

MESH via Orphanet ⁴⁵ D004535

ICD10 via Orphanet ³³ Q79.6

UMLS via Orphanet ⁷¹ C0013720

Orphanet ⁵⁸ ORPHA98249

UMLS ⁷⁰ C0013720

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Summaries for Ehlers-Danlos Syndrome

MedlinePlus Genetics : ⁴³ Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.The various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.An unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.Many people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.Other types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.

MalaCards based summary : Ehlers-Danlos Syndrome, also known as eds, is related to ehlers-danlos syndrome, vascular type and ehlers-danlos syndrome, classic type, 2, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Ehlers-Danlos Syndrome is COL3A1 (Collagen Type III Alpha 1 Chain), and among its related pathways/superpathways are Focal adhesion and ECM-receptor interaction. The drugs Celiprolol and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and uterus, and related phenotypes are growth/size/body region and cardiovascular system

Disease Ontology : ¹² A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules.

GARD : ²⁰ Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. The new classification, from 2017, includes 13 subtypes of EDS. Although other forms of the condition may exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. Mutations in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. Please visit the following link from the Ehlers-Danlos Society to learn more about the new classification and the different subtypes: https://ehlers-danlos.com/eds-types/

MedlinePlus : ⁴² Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. EDS usually affects your skin, joints and blood vessel walls. Symptoms include Loose joints Fragile, small blood vessels Abnormal scar formation and wound healing Soft, velvety, stretchy skin that bruises easily There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms, often with medicines and physical therapy. It also includes learning how to protect your joints and prevent injuries.

KEGG : ³⁶ Ehlers-Danlos syndrome (EDS) is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. Most EDS subtypes are caused by mutations in genes encoding the fibrillar collagens, or in genes coding for enzymes involved in the post-translational modification of these collagens. EDS can be classified into 13 subtypes: classical type (EDSCL), classical-like type (EDSCLL), cardiac-valvular type (EDSCV), vascular type (EDSVASC), hypermobility type (EDSHMB), arthrochalasia type (EDSARTH), dermatospraxis type (EDSDERMS), kyphoscoliosis type (EDSKSCL), brittle cornea syndrome (BCS), spondylodysplastic type (EDSSPD), musculocontractural type (EDSMC), myopathic type (EDSMYP), and periodontal type (EDSPD).

Wikipedia : ⁷³ Ehlers-Danlos syndromes are a group of rare genetic connective-tissue disorders. Symptoms may include... more...

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Related Diseases for Ehlers-Danlos Syndrome

Diseases in the Ehlers-Danlos Syndrome family:

Autosomal Recessive Type Iv Ehlers-Danlos Syndrome

Diseases related to Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 744, show less)

#	Related Disease	Score	Top Affiliating Genes
1	ehlers-danlos syndrome, vascular type	33.7	COL5A1 COL3A1
2	ehlers-danlos syndrome, classic type, 2	33.6	COL5A2 COL5A1 COL3A1
3	ehlers-danlos syndrome, hypermobility type	33.6	TNXB SLC39A13 COL3A1
4	kyphoscoliotic ehlers-danlos syndrome	33.6	PLOD1 FKBP14
5	ehlers-danlos syndrome, classic-like	33.5	TNXB LOC106780803 AEBP1
6	ehlers-danlos syndrome, arthrochalasia type, 2	33.5	COL1A2 COL1A1
7	ehlers-danlos syndrome, cardiac valvular type	33.5	COL1A2 COL1A1
8	ehlers-danlos syndrome, periodontal type, 1	33.5	C1S C1R
9	arthrochalasia ehlers-danlos syndrome	33.4	COL1A2 COL1A1
10	ehlers-danlos syndrome, spondylodysplastic type, 2	33.4	B4GALT7 B3GALT6
11	ehlers-danlos syndrome, musculocontractural type, 2	33.3	DSE CHST14
12	musculocontractural ehlers-danlos syndrome	33.3	DSE CHST14
13	periodontal ehlers-danlos syndrome	33.3	C1S C1R
14	spondylodysplastic ehlers-danlos syndrome	33.3	B4GALT7 B3GALT6
15	ehlers-danlos syndrome, periodontal type, 2	33.2	C1S C1R
16	classic ehlers-danlos syndrome	33.1	TNXB COL5A2 COL5A1 COL1A2 COL1A1
17	hypermobile ehlers-danlos syndrome	33.0	TNXB PLOD1 FKBP14 COL5A2 COL5A1 COL1A1
18	ehlers-danlos syndrome, classic type, 1	33.0	DSE COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
19	aortic aneurysm, familial thoracic 1	32.5	FLNA COL5A1 COL3A1
20	b4galt7-related spondylodysplastic ehlers-danlos syndrome	32.4	B4GALT7 B3GALT6
21	familial thoracic aortic aneurysm and aortic dissection	32.3	COL5A2 COL5A1 COL3A1 COL1A1
22	orthostatic intolerance	32.1	PLOD1 FLNA COL5A2 COL5A1 COL3A1 COL1A2
23	loeys-dietz syndrome	32.0	PLOD1 FLNA FKBP14 COL5A2 COL5A1 COL3A1
24	connective tissue disease	31.8	TNXB PLOD1 FLNA COL5A2 COL5A1 COL3A1
25	aneurysm	31.8	PLOD1 FLNA COL3A1
26	hypermobility syndrome	31.7	TNXB COL5A2 COL5A1 COL3A1 COL1A1 C1R
27	aortic dissection	31.4	COL5A2 COL5A1 COL3A1 COL1A1
28	marfan syndrome	31.2	FLNA COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
29	scoliosis	31.2	PLOD1 FLNA FKBP14 COL5A1 COL1A2 COL1A1
30	pelvic organ prolapse	31.0	TNXB COL3A1 COL1A2 COL1A1 ADAMTS2
31	ehlers-danlos/osteogenesis imperfecta syndrome	31.0	COL1A2 COL1A1
32	congenital contractures	31.0	PLOD1 CHST14
33	brittle bone disorder	30.8	TNXB PLOD3 PLOD1 COL5A2 COL5A1 COL3A1
34	gingival recession	30.6	C1S C1R
35	col1a1/2 osteogenesis imperfecta	30.6	COL1A2 COL1A1
36	progeroid syndrome	30.6	COL1A1 B4GALT7
37	hypomelanosis of ito	30.6	PLOD1 COL5A1
38	quadricuspid aortic valve	30.6	TNXB LOC106780803
39	osteogenesis imperfecta, type iii	30.4	COL5A2 COL1A2 COL1A1 ADAMTS2
40	tricuspid valve prolapse	30.4	FLNA COL3A1 CHST14
41	osteogenesis imperfecta, type ii	30.3	COL5A2 COL5A1 COL1A2 COL1A1 ADAMTS2
42	aortic valve disease 1	30.2	FLNA COL5A2 COL5A1 COL3A1
43	frontometaphyseal dysplasia 1	30.2	FLNA C1R
44	bethlem myopathy 1	30.0	PLOD1 FKBP14 COL3A1 CHST14
45	collagen disease	29.5	TNXB SLC39A13 PLOD1 FKBP14 DSE COL5A2
46	ehlers-danlos syndrome, kyphoscoliotic type, 1	12.0
47	ehlers-danlos syndrome, dermatosparaxis type	12.0
48	ehlers-danlos syndrome, spondylodysplastic type, 3	12.0
49	ehlers-danlos syndrome, spondylodysplastic type, 1	12.0
50	ehlers-danlos syndrome, kyphoscoliotic type, 2	12.0
51	ehlers-danlos syndrome, arthrochalasia type, 1	11.9
52	ehlers-danlos syndrome, musculocontractural type, 1	11.9
53	ehlers-danlos syndrome, classic-like, 2	11.9
54	brittle cornea syndrome 1	11.8
55	polymicrogyria with or without vascular-type ehlers-danlos syndrome	11.8
56	occipital horn syndrome	11.7
57	combined osteogenesis imperfecta and ehlers-danlos syndrome 2	11.7
58	bethlem myopathy 2	11.7
59	combined osteogenesis imperfecta and ehlers-danlos syndrome 1	11.7
60	brittle cornea syndrome 2	11.6
61	ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality	11.6
62	autosomal recessive type iv ehlers-danlos syndrome	11.6
63	cardiac valvular dysplasia, x-linked	11.5
64	plod1-related kyphoscoliotic ehlers-danlos syndrome	11.5
65	x-linked ehlers-danlos syndrome	11.4
66	ehlers-danlos syndrome, autosomal dominant, type unspecified	11.4
67	ehlers-danlos syndrome, beasley-cohen type	11.4
68	fkbp14 kyphoscoliotic ehlers-danlos syndrome	11.3
69	postural orthostatic tachycardia syndrome	11.2
70	joint laxity, familial	11.2
71	pneumothorax, primary spontaneous	11.2
72	periventricular nodular heterotopia	11.2
73	autosomal recessive cutis laxa type i	11.2
74	autonomic nervous system disease	11.2
75	flna-related periventricular nodular heterotopia	11.2
76	cutis laxa, autosomal dominant 1	11.2
77	cutis laxa, autosomal recessive, type ia	11.2
78	mounier-kuhn syndrome	11.2
79	loeys-dietz syndrome 2	11.2
80	cutis laxa, autosomal recessive, type ic	11.2
81	hereditary alpha tryptasemia syndrome	11.2
82	auditory neuropathy spectrum disorder	11.2
83	idiopathic hypersomnia	11.0
84	narcolepsy	10.9
85	hypotonia	10.8
86	chronic pain	10.8
87	aortic aneurysm	10.8
88	pneumothorax	10.7
89	periodontitis	10.7
90	brittle cornea syndrome	10.6
91	fibromyalgia	10.6
92	clubfoot	10.6
93	cutis laxa	10.6
94	myopathy	10.6
95	varicose veins	10.6
96	inguinal hernia	10.5
97	neuropathy	10.5
98	aortic aneurysm, familial abdominal, 1	10.5
99	osteogenesis imperfecta, type i	10.5
100	autosomal recessive disease	10.5
101	intestinal perforation	10.5
102	constipation	10.5
103	dysautonomia	10.5
104	myopia	10.5
105	vascular disease	10.5
106	lipoid congenital adrenal hyperplasia	10.5
107	keratoconus	10.5
108	polyneuropathy	10.5
109	peritonitis	10.5
110	autonomic dysfunction	10.5
111	headache	10.5
112	high bone mass osteogenesis imperfecta	10.4	COL1A2 COL1A1
113	lipoblastoma	10.4	COL3A1 COL1A2
114	cerebrovascular disease	10.4
115	fibrogenesis imperfecta ossium	10.4	COL1A2 COL1A1
116	plantar fascial fibromatosis	10.4	COL3A1 COL1A1
117	scleroderma, familial progressive	10.4	COL1A2 COL1A1
118	epicondylitis	10.4	COL5A1 COL1A1
119	hypertelorism	10.4
120	retinal detachment	10.4
121	acrogeria, gottron type	10.4
122	adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	10.4
123	umbilical hernia	10.4
124	heart septal defect	10.4
125	compartment syndrome	10.4
126	carotid artery dissection	10.4
127	irritable bowel syndrome	10.4
128	back pain	10.4
129	blepharochalasis	10.4	FKBP14 ADAMTS2
130	tibialis tendinitis	10.4	TNXB COL5A2 ADAMTS2
131	diffuse scleroderma	10.4	COL1A2 COL1A1
132	vesicoureteral reflux 8	10.4	TNXB LOC106780803
133	syndromic x-linked intellectual disability cabezas type	10.4	COL1A2 COL1A1
134	mitral valve insufficiency	10.4
135	muscular atrophy	10.4
136	chronic fatigue syndrome	10.4
137	vasculitis	10.4
138	neurofibromatosis	10.4
139	cerebral aneurysms	10.4
140	spondyloepimetaphyseal dysplasia with joint laxity	10.4	COL1A2 B3GALT6
141	osteogenesis imperfecta, type v	10.4	COL1A2 COL1A1
142	immunodeficiency due to a classical component pathway complement deficiency	10.4	C1S C1R
143	aortic aneurysm, familial thoracic 2	10.3	FLNA COL3A1
144	bladder diverticulum	10.3
145	marfanoid hypermobility syndrome	10.3
146	osteoporosis	10.3
147	periventricular nodular heterotopia 1	10.3
148	bone mineral density quantitative trait locus 8	10.3
149	bone mineral density quantitative trait locus 15	10.3
150	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.3
151	atrial heart septal defect	10.3
152	peripheral nervous system disease	10.3
153	polymicrogyria	10.3
154	overgrowth syndrome	10.3
155	congenital intrinsic factor deficiency	10.3	C1S C1R
156	caspase 8 deficiency	10.3	PLOD1 FKBP14 COL5A2 COL5A1
157	desbuquois dysplasia	10.3	CHST14 B4GALT7 B3GALT6
158	spondyloepiphyseal dysplasia with congenital joint dislocations	10.3	CHST14 B4GALT7 B3GALT6
159	acroosteolysis	10.3
160	cleft palate, isolated	10.3
161	coronary artery dissection, spontaneous	10.3
162	attention deficit-hyperactivity disorder	10.3
163	pectus excavatum	10.3
164	teeth, supernumerary	10.3
165	arterial tortuosity syndrome	10.3
166	ataxia and polyneuropathy, adult-onset	10.3
167	alacrima, achalasia, and mental retardation syndrome	10.3
168	helix syndrome	10.3
169	thrombosis	10.3
170	endocarditis	10.3
171	von willebrand's disease	10.3
172	splenic artery aneurysm	10.3
173	personality disorder	10.3
174	ventricular septal defect	10.3
175	hemopneumothorax	10.3
176	subclavian artery aneurysm	10.3
177	gastritis	10.3
178	aortic valve insufficiency	10.3
179	diverticulitis	10.3
180	refractive error	10.3
181	mast cell activation syndrome	10.3
182	pure autonomic failure	10.3
183	dysphagia	10.3
184	seizure disorder	10.3
185	temporomandibular joint anomaly	10.3
186	hyperostosis	10.3	FLNA COL1A2 COL1A1
187	larsen-like syndrome	10.2	COL5A2 COL3A1 COL1A2 COL1A1 B4GALT7
188	boomerang dysplasia	10.2	FLNA B4GALT7
189	lateral sclerosis	10.2
190	atrial standstill 1	10.2
191	gastroesophageal reflux	10.2
192	clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	10.2
193	multiple sclerosis	10.2
194	elastosis perforans serpiginosa	10.2
195	fibromuscular dysplasia	10.2
196	migraine with or without aura 1	10.2
197	strabismus	10.2
198	autism	10.2
199	celiac disease 1	10.2
200	cryptorchidism, unilateral or bilateral	10.2
201	pseudoxanthoma elasticum	10.2
202	menkes disease	10.2
203	kearns-sayre syndrome	10.2
204	angioid streaks	10.2
205	patent ductus arteriosus 1	10.2
206	anxiety	10.2
207	autism spectrum disorder	10.2
208	pain agnosia	10.2
209	ptosis	10.2
210	cardiac arrest	10.2
211	intestinal pseudo-obstruction	10.2
212	megacolon	10.2
213	cardiac tamponade	10.2
214	hereditary hemorrhagic telangiectasia	10.2
215	telangiectasis	10.2
216	epilepsy	10.2
217	hemangioma	10.2
218	endometriosis	10.2
219	acute pancreatitis	10.2
220	ischemia	10.2
221	mood disorder	10.2
222	placenta disease	10.2
223	osteoarthritis	10.2
224	arthritis	10.2
225	mechanical strabismus	10.2
226	exophthalmos	10.2
227	cervical incompetence	10.2
228	muscular dystrophy	10.2
229	chiari malformation	10.2
230	raynaud phenomenon	10.2
231	nodular neuronal heterotopia	10.2
232	congenital amyoplasia	10.2
233	bruck syndrome	10.2	PLOD3 PLOD1 COL1A2 COL1A1
234	complement component 3 deficiency	10.2	C1S C1R
235	familial vesicoureteral reflux	10.2	TNXB LOC106780803
236	osteogenesis imperfecta, type vii	10.2	COL1A2 COL1A1
237	stickler syndrome	10.1	PLOD3 COL5A2 COL5A1 COL1A2 COL1A1
238	erythermalgia, primary	10.1
239	hernia, hiatus	10.1
240	melkersson-rosenthal syndrome	10.1
241	prader-willi syndrome	10.1
242	dowling-degos disease 1	10.1
243	spondylolisthesis	10.1
244	down syndrome	10.1
245	volvulus of midgut	10.1
246	hydrocephalus, congenital, 1	10.1
247	ullrich congenital muscular dystrophy 1	10.1
248	branchiootic syndrome 1	10.1
249	astigmatism	10.1
250	ventricular fibrillation, paroxysmal familial, 1	10.1
251	anorexia nervosa	10.1
252	bone mineral density quantitative trait locus 3	10.1
253	myocardial infarction	10.1
254	preterm premature rupture of the membranes	10.1
255	intraocular pressure quantitative trait locus	10.1
256	leptin deficiency or dysfunction	10.1
257	gastrointestinal ulceration, recurrent, with dysfunctional platelets	10.1
258	tooth agenesis	10.1
259	distal arthrogryposis	10.1
260	sleep apnea	10.1
261	aphasia	10.1
262	spondyloepimetaphyseal dysplasia	10.1
263	superior semicircular canal dehiscence	10.1
264	dermatomyositis	10.1
265	microcephaly	10.1
266	obsessive-compulsive personality disorder	10.1
267	intracranial aneurysm	10.1
268	respiratory failure	10.1
269	arteriovenous malformation	10.1
270	pyelonephritis	10.1
271	scleral staphyloma	10.1
272	gastroparesis	10.1
273	esophagitis	10.1
274	otosclerosis	10.1
275	spinal muscular atrophy	10.1
276	quadriplegia	10.1
277	acute cystitis	10.1
278	frozen shoulder	10.1
279	renal tubular acidosis	10.1
280	pulmonary valve insufficiency	10.1
281	avoidant personality disorder	10.1
282	keratosis	10.1
283	hypogonadism	10.1
284	cerebral palsy	10.1
285	factor xiii deficiency	10.1
286	focal epilepsy	10.1
287	bursitis	10.1
288	complex regional pain syndrome	10.1
289	purpura	10.1
290	plexopathy	10.1
291	skin disease	10.1
292	heart valve disease	10.1
293	tricuspid valve insufficiency	10.1
294	pancreatitis	10.1
295	ovarian cyst	10.1
296	aortic disease	10.1
297	sleep disorder	10.1
298	paraplegia	10.1
299	acne	10.1
300	dentin dysplasia	10.1
301	myocarditis	10.1
302	cataract	10.1
303	appendicitis	10.1
304	ileus	10.1
305	cleft lip	10.1
306	intracranial hypertension	10.1
307	alopecia	10.1
308	developmental coordination disorder	10.1
309	x-linked otopalatodigital spectrum disorders	10.1
310	weber syndrome	10.1
311	developmental dyspraxia	10.1
312	head injury	10.1
313	syncope	10.1
314	cleft lip/palate	10.1
315	amyotrophic lateral sclerosis 1	10.1
316	larsen syndrome	10.1	FLNA DSE CHST14 B4GALT7 B3GALT6
317	neurodevelopmental, jaw, eye, and digital syndrome	10.0
318	brown's tendon sheath syndrome	10.0
319	ocular motility disease	10.0
320	dystonia	10.0
321	tarlov cysts	10.0
322	brain injury	10.0
323	larsen-like syndrome b3gat3 type	10.0	SLC39A13 DSE CHST14 B4GALT7 B3GALT6 AEBP1
324	temtamy preaxial brachydactyly syndrome	10.0	CHST14 B3GALT6
325	syringoma	10.0
326	discoid lupus erythematosus	10.0
327	spondyloarthropathy 1	10.0
328	arteries, anomalies of	10.0
329	blood group, i system	10.0
330	epidermolytic hyperkeratosis	10.0
331	progressive familial heart block, type ia	10.0
332	caffey disease	10.0
333	cardiac conduction defect	10.0
334	carpal tunnel syndrome	10.0
335	chiari malformation type i	10.0
336	cleidocranial dysplasia	10.0
337	dentatorubral-pallidoluysian atrophy	10.0
338	lateral meningocele syndrome	10.0
339	aortic aneurysm, familial thoracic 4	10.0
340	factor viii deficiency	10.0
341	gilles de la tourette syndrome	10.0
342	hair whorl	10.0
343	hand skill, relative	10.0
344	diaphragmatic hernia, congenital	10.0
345	hirschsprung disease 1	10.0
346	beukes hip dysplasia	10.0
347	palmoplantar keratoderma, epidermolytic	10.0
348	ige responsiveness, atopic	10.0
349	klippel-trenaunay-weber syndrome	10.0
350	leiomyoma, uterine	10.0
351	lipomatosis, multiple	10.0
352	mesothelioma, malignant	10.0
353	muir-torre syndrome	10.0
354	nail-patella syndrome	10.0
355	neuropathy, hereditary, with liability to pressure palsies	10.0
356	enchondromatosis, multiple, ollier type	10.0
357	multicentric carpotarsal osteolysis syndrome	10.0
358	otitis media	10.0
359	pancreas, annular	10.0
360	periodontitis, aggressive, 1	10.0
361	hutchinson-gilford progeria syndrome	10.0
362	proteus syndrome	10.0
363	pulmonary hypertension, primary, 1	10.0
364	rheumatoid arthritis	10.0
365	telangiectasia, hereditary hemorrhagic, type 1	10.0
366	telecanthus	10.0
367	testicular torsion	10.0
368	tetralogy of fallot	10.0
369	tuberous sclerosis 1	10.0
370	von willebrand disease, type 1	10.0
371	chiari malformation type ii	10.0
372	ascites, chylous	10.0
373	cutis laxa, autosomal recessive, type iia	10.0
374	cystic fibrosis	10.0
375	dandy-walker syndrome	10.0
376	duodenal atresia	10.0
377	geroderma osteodysplasticum	10.0
378	pulmonary venoocclusive disease 2, autosomal recessive	10.0
379	mowat-wilson syndrome	10.0
380	marden-walker syndrome	10.0
381	familial mediterranean fever	10.0
382	myasthenia gravis	10.0
383	3-methylglutaconic aciduria, type iii	10.0
384	osteoporosis, juvenile	10.0
385	periodontitis, chronic	10.0
386	phenylketonuria	10.0
387	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	10.0
388	sudden infant death syndrome	10.0
389	tracheobronchomegaly	10.0
390	xanthinuria, type i	10.0
391	body mass index quantitative trait locus 11	10.0
392	otopalatodigital syndrome, type ii	10.0
393	hemophilia a	10.0
394	hemophilia b	10.0
395	melnick-needles syndrome	10.0
396	simpson-golabi-behmel syndrome, type 1	10.0
397	tooth size	10.0
398	dermatitis herpetiformis, familial	10.0
399	yemenite deaf-blind hypopigmentation syndrome	10.0
400	body mass index quantitative trait locus 9	10.0
401	macular degeneration, age-related, 1	10.0
402	body mass index quantitative trait locus 8	10.0
403	progressive familial heart block, type ib	10.0
404	body mass index quantitative trait locus 1	10.0
405	pulmonary disease, chronic obstructive	10.0
406	body mass index quantitative trait locus 4	10.0
407	body mass index quantitative trait locus 10	10.0
408	body mass index quantitative trait locus 7	10.0
409	major depressive disorder	10.0
410	loeys-dietz syndrome 1	10.0
411	major affective disorder 8	10.0
412	body mass index quantitative trait locus 12	10.0
413	major affective disorder 9	10.0
414	factor xi deficiency	10.0
415	body mass index quantitative trait locus 14	10.0
416	leukemia, acute lymphoblastic	10.0
417	muscular dystrophy, congenital, lmna-related	10.0
418	alpha-1-antitrypsin deficiency	10.0
419	barrett esophagus	10.0
420	body mass index quantitative trait locus 18	10.0
421	hyperprolactinemia	10.0
422	cutis laxa, autosomal dominant 3	10.0
423	chorea, childhood-onset, with psychomotor retardation	10.0
424	body mass index quantitative trait locus 19	10.0
425	agenesis of corpus callosum, cardiac, ocular, and genital syndrome	10.0
426	peripheral vascular disease	10.0
427	tendinitis	10.0
428	angiosarcoma	10.0
429	brugada syndrome	10.0
430	exanthem	10.0
431	rheumatic heart disease	10.0
432	limb ischemia	10.0
433	spastic ataxia	10.0
434	infective endocarditis	10.0
435	sexual disorder	10.0
436	colitis	10.0
437	ischemic colitis	10.0
438	xanthinuria	10.0
439	sclerocornea	10.0
440	cornea plana	10.0
441	tracheomalacia	10.0
442	anal fistula	10.0
443	ectopic pregnancy	10.0
444	hyperekplexia	10.0
445	dextro-looped transposition of the great arteries	10.0
446	autosomal recessive cutis laxa type iii	10.0
447	hereditary lymphedema i	10.0
448	muscular disease	10.0
449	bone disease	10.0
450	fibrous dysplasia	10.0
451	polycystic kidney disease	10.0
452	b-lymphoblastic leukemia/lymphoma	10.0
453	rapidly involuting congenital hemangioma	10.0
454	isolated ectopia lentis	10.0
455	frontometaphyseal dysplasia	10.0
456	migraine with aura	10.0
457	corneal disease	10.0
458	venous insufficiency	10.0
459	xerophthalmia	10.0
460	dry eye syndrome	10.0
461	pleomorphic lipoma	10.0
462	pleurisy	10.0
463	blepharophimosis	10.0
464	suppression amblyopia	10.0
465	amblyopia	10.0
466	amyotrophic neuralgia	10.0
467	esophageal atresia	10.0
468	leukodystrophy	10.0
469	charcot-marie-tooth disease	10.0
470	short bowel syndrome	10.0
471	interstitial nephritis	10.0
472	meningocele	10.0
473	hand, foot and mouth disease	10.0
474	tooth disease	10.0
475	borderline personality disorder	10.0
476	placenta praevia	10.0
477	hypoparathyroidism	10.0
478	primary hyperparathyroidism	10.0
479	disseminated intravascular coagulation	10.0
480	retinal microaneurysm	10.0
481	heart disease	10.0
482	alternating exotropia	10.0
483	exotropia	10.0
484	sciatic neuropathy	10.0
485	hemopericardium	10.0
486	horner's syndrome	10.0
487	pericardial effusion	10.0
488	mononeuropathy	10.0
489	synostosis	10.0
490	allergic disease	10.0
491	inflammatory spondylopathy	10.0
492	hemosiderosis	10.0
493	pica disease	10.0
494	neurogenic bladder	10.0
495	oligohydramnios	10.0
496	transvestism	10.0
497	entropion	10.0
498	bell's palsy	10.0
499	olecranon bursitis	10.0
500	leiomyoma	10.0
501	migraine without aura	10.0
502	mucopolysaccharidosis iv	10.0
503	guillain-barre syndrome	10.0
504	choreatic disease	10.0
505	keratoconjunctivitis sicca	10.0
506	dilated cardiomyopathy	10.0
507	carotid stenosis	10.0
508	periventricular leukomalacia	10.0
509	right bundle branch block	10.0
510	diarrhea	10.0
511	tuberous sclerosis	10.0
512	hyperparathyroidism	10.0
513	somatization disorder	10.0
514	facial paralysis	10.0
515	bladder neck obstruction	10.0
516	peptic esophagitis	10.0
517	acute cholangitis	10.0
518	root resorption	10.0
519	axenfeld-rieger syndrome	10.0
520	hereditary angioedema	10.0
521	aggressive periodontitis	10.0
522	angioedema	10.0
523	renovascular hypertension	10.0
524	mental depression	10.0
525	cystitis	10.0
526	neuritis	10.0
527	status epilepticus	10.0
528	impotence	10.0
529	melanoma	10.0
530	exostosis	10.0
531	dental caries	10.0
532	transient cerebral ischemia	10.0
533	ankylosis	10.0
534	craniosynostosis	10.0
535	relapsing-remitting multiple sclerosis	10.0
536	corneal dystrophy	10.0
537	agammaglobulinemia	10.0
538	benign mesothelioma	10.0
539	transitional cell carcinoma	10.0
540	dermatitis	10.0
541	epidermolysis bullosa	10.0
542	anuria	10.0
543	adenocarcinoma	10.0
544	acute kidney failure	10.0
545	food allergy	10.0
546	gingival overgrowth	10.0
547	gingivitis	10.0
548	lipid metabolism disorder	10.0
549	tracheal stenosis	10.0
550	bipolar disorder	10.0
551	palmoplantar keratosis	10.0
552	skin carcinoma	10.0
553	brachial plexus neuropathy	10.0
554	gastric adenocarcinoma	10.0
555	anovulation	10.0
556	arthropathy	10.0
557	cranial nerve palsy	10.0
558	thrombophlebitis	10.0
559	lynch syndrome	10.0
560	acute myocarditis	10.0
561	mouth disease	10.0
562	dentinogenesis imperfecta	10.0
563	systemic scleroderma	10.0
564	coronary stenosis	10.0
565	conjunctivochalasis	10.0
566	radiculopathy	10.0
567	myofascial pain syndrome	10.0
568	neuromuscular disease	10.0
569	hypotrichosis	10.0
570	multiple chemical sensitivity	10.0
571	intracranial hypotension	10.0
572	cavernous hemangioma	10.0
573	poliomyelitis	10.0
574	gerstmann syndrome	10.0
575	adjustment disorder	10.0
576	nutritional deficiency disease	10.0
577	infertility	10.0
578	intestinal disease	10.0
579	nerve compression syndrome	10.0
580	congestive heart failure	10.0
581	bronchitis	10.0
582	severe combined immunodeficiency	10.0
583	pulmonary valve stenosis	10.0
584	spondylitis	10.0
585	spinal stenosis	10.0
586	peroneal nerve paralysis	10.0
587	situs inversus	10.0
588	neuroblastoma	10.0
589	gastrointestinal system disease	10.0
590	hemarthrosis	10.0
591	carotid artery occlusion	10.0
592	intestinal obstruction	10.0
593	pellagra	10.0
594	lung disease	10.0
595	dermatitis herpetiformis	10.0
596	eating disorder	10.0
597	neuromyelitis optica	10.0
598	learning disability	10.0
599	autosomal dominant polycystic kidney disease	10.0
600	degenerative disc disease	10.0
601	pityriasis versicolor	10.0
602	macroglobulinemia	10.0
603	amyloidosis	10.0
604	periodic limb movement disorder	10.0
605	cholangitis	10.0
606	pulmonary embolism	10.0
607	bronchiectasis	10.0
608	dextrocardia	10.0
609	neurofibroma	10.0
610	stomatitis	10.0
611	aphthous stomatitis	10.0
612	pulmonary emphysema	10.0
613	vitreous detachment	10.0
614	hemorrhoid	10.0
615	polyarteritis nodosa	10.0
616	radioulnar synostosis	10.0
617	hypoglycemia	10.0
618	albinism	10.0
619	morquio syndrome	10.0
620	47,xyy	10.0
621	atp6v0a2-related cutis laxa	10.0
622	cleidocranial dysplasia spectrum disorder	10.0
623	48,xyyy	10.0
624	aneurysm of sinus of valsalva	10.0
625	bilateral frontal polymicrogyria	10.0
626	boerhaave syndrome	10.0
627	carcinoid syndrome	10.0
628	cardiac rupture	10.0
629	central pain syndrome	10.0
630	cerebrospinal fluid leak	10.0
631	chromosomal triplication	10.0
632	chromosome 6q deletion	10.0
633	cystic adenomatoid malformation of lung	10.0
634	dwarfism	10.0
635	eagle syndrome	10.0
636	encephalocele	10.0
637	erythrokeratoderma ''en cocardes''	10.0
638	gigantism	10.0
639	hemangioendothelioma	10.0
640	neonatal stroke	10.0
641	new daily-persistent headache	10.0
642	oto-palatal-digital syndrome	10.0
643	parsonage turner syndrome	10.0
644	pili torti	10.0
645	pontine hemorrhage	10.0
646	single ventricular heart	10.0
647	synovial chondromatosis	10.0
648	thalassemia	10.0
649	wandering spleen	10.0
650	juvenile primary osteoporosis	10.0
651	depression	10.0
652	hereditary xanthinuria	10.0
653	stxbp1 encephalopathy	10.0
654	farsightedness	10.0
655	encephalopathy	10.0
656	floppy infant syndrome	10.0
657	hereditary neuropathies	10.0
658	hypersomnia	10.0
659	infantile hypotonia	10.0
660	myoclonus	10.0
661	myotonia	10.0
662	paresthesia	10.0
663	spinal cord injury	10.0
664	traumatic brain injury	10.0
665	tremor	10.0
666	whiplash	10.0
667	angioosteohypertrophic syndrome	10.0
668	interatrial communication	10.0
669	epithelioid hemangioendothelioma	10.0
670	autosomal dominant epidermolytic ichthyosis	10.0
671	drug-induced vasculitis	10.0
672	bilateral polymicrogyria	10.0
673	cerebral cortical dysplasia	10.0
674	solitary rectal ulcer syndrome	10.0
675	chronic intestinal failure	10.0
676	avascular necrosis	10.0
677	spontaneous intracranial hypotension	10.0
678	pik3ca-related overgrowth syndrome	10.0
679	rare vascular disease	10.0
680	monostotic fibrous dysplasia	10.0
681	premature aging	10.0
682	rare tumor	10.0
683	cardiogenic shock	10.0
684	atrial septal aneurysm	10.0
685	multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	10.0
686	disease of mental health	10.0
687	hypercholesterolemia, familial, 1	9.9
688	ocular motor apraxia	9.9
689	spastic paraplegia, intellectual disability, nystagmus, and obesity	9.9
690	dementia	9.9
691	severe acute respiratory syndrome	9.9
692	odontochondrodysplasia	9.8	PLOD1 FLNA COL5A2 COL5A1 COL3A1 COL1A2
693	buschke-ollendorff syndrome	9.8
694	williams-beuren syndrome	9.8
695	posttransplant acute limbic encephalitis	9.8
696	ectodermal dysplasia	9.7
697	alzheimer disease	9.7
698	type 2 diabetes mellitus	9.7
699	renal cell carcinoma, nonpapillary	9.7
700	obsessive-compulsive disorder	9.7
701	triiodothyronine receptor auxiliary protein	9.7
702	immune deficiency disease	9.7
703	gallbladder disease 1	9.7
704	asthma	9.7
705	stroke, ischemic	9.7
706	bulimia nervosa	9.7
707	microcephaly, epilepsy, and diabetes syndrome	9.7
708	cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	9.7
709	ullrich congenital muscular dystrophy 2	9.7
710	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	9.7
711	angina pectoris	9.7
712	deficiency anemia	9.7
713	disease by infectious agent	9.7
714	hyperphosphatemia	9.7
715	middle east respiratory syndrome	9.7
716	urolithiasis	9.7
717	urinary tract infection	9.7
718	asbestosis	9.7
719	social phobia	9.7
720	chlamydia	9.7
721	tetanus	9.7
722	neutropenia	9.7
723	male infertility	9.7
724	acoustic neuroma	9.7
725	urethritis	9.7
726	eclampsia	9.7
727	generalized anxiety disorder	9.7
728	hypothyroidism	9.7
729	enamel erosion	9.7
730	opiate dependence	9.7
731	cervicitis	9.7
732	substance abuse	9.7
733	neurilemmoma	9.7
734	neurotic disorder	9.7
735	pneumonia	9.7
736	prion disease	9.7
737	measles	9.7
738	subacute delirium	9.7
739	chickenpox	9.7
740	intermediate coronary syndrome	9.7
741	diabetes mellitus	9.7
742	sickle cell disease	9.7
743	broken heart syndrome	9.7
744	asbestos intoxication	9.7

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome:

Sources

Symptoms & Phenotypes for Ehlers-Danlos Syndrome

UMLS symptoms related to Ehlers-Danlos Syndrome:

back pain; sciatica; muscle cramp

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

⁴⁶ (showing 6, show less)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.13	ADAMTS2 AEBP1 CHST14 COL1A1 COL1A2 COL3A1
2	cardiovascular system	MP:0005385	10.11	AEBP1 CHST14 COL1A1 COL1A2 COL3A1 COL5A1
3	integument	MP:0010771	10.07	ADAMTS2 AEBP1 CHST14 COL1A1 COL1A2 COL3A1
4	mortality/aging	MP:0010768	9.97	AEBP1 B3GALT6 CHST14 COL1A1 COL1A2 COL3A1
5	respiratory system	MP:0005388	9.5	ADAMTS2 C1R COL1A1 COL3A1 COL5A2 FLNA
6	skeleton	MP:0005390	9.28	ADAMTS2 CHST14 COL1A1 COL1A2 COL5A2 FLNA

Sources

Drugs & Therapeutics for Ehlers-Danlos Syndrome

Drugs for Ehlers-Danlos Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 42, show less)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Celiprolol

Approved, Investigational

Phase 4

56980-93-9

Neurotransmitter Agents

Phase 4

Adrenergic Antagonists

Phase 4

Adrenergic beta-Antagonists

Phase 4

Adrenergic Agents

Phase 4

Sympathomimetics

Phase 4

Antihypertensive Agents

Phase 4

Adrenergic beta-1 Receptor Antagonists

Phase 4

Vasodilator Agents

Phase 4

Angiotensin II

Approved, Investigational

Phase 3

68521-88-0, 11128-99-7, 4474-91-3

172198

Irbesartan

Approved, Investigational

Phase 3

138402-11-6

3749

Giapreza

Phase 3

Angiotensinogen

Phase 3

Angiotensin Receptor Antagonists

Phase 3

Angiotensin II Type 1 Receptor Blockers

Phase 3

Ethanol

Approved

64-17-5

702

Acetylcholine

Approved, Investigational

51-84-3

187

Mecasermin

Approved, Investigational

68562-41-4

Lidocaine

Approved, Vet_approved

137-58-6

3676

Bupivacaine

Approved, Investigational

2180-92-9, 38396-39-3

2474

Folic acid

Approved, Nutraceutical, Vet_approved

59-30-3

6037

Riboflavin

Approved, Investigational, Nutraceutical, Vet_approved

83-88-5

493570

Vitamin B9

Nutrients

Micronutrients

Trace Elements

Photosensitizing Agents

Vitamin B Complex

Vitamins

Folate

Vitamin B2

Dermatologic Agents

Analgesics, Opioid

Anti-Inflammatory Agents

Antibodies

Immunoglobulins

Liver Extracts

Anesthetics

Anti-Arrhythmia Agents

Sodium Channel Blockers

Anesthetics, Local

Diuretics, Potassium Sparing

Interventional clinical trials:

(showing 39, show less)

#	Name	Status	NCT ID	Phase	Drugs
1	Prevention of Vascular Complications by BetaBlocker Treatment in Vascular Ehlers-Danlos Syndrome	Completed	NCT00190411	Phase 4	celiprolol;Control
2	Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome: a Double Blind, Randomized, Placebo Controlled, Multicenter Trial.	Completed	NCT02597361	Phase 3	Irbesartan;Placebo
3	A Pilot Study of Mind-Body Therapy for Chronic Pain in Ehlers-Danlos Syndrome	Completed	NCT00001966	Phase 2	Mind-body therapy
4	Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome	Unknown status	NCT03596437
5	Compression Garments Effects on Postural Balance of Patients With Hypermobility Type of Ehlers-danlos Syndrome, a Prospective Study on 40 Patients	Unknown status	NCT03359135
6	Effectiveness of Wearing a Compression Garment (SED CICATREX® Model) for Patients With Hypermobility Type of Ehlers-Danlos Syndrome	Unknown status	NCT02144532
7	Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome	Unknown status	NCT03575182
8	Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI	Unknown status	NCT01307527		Riboflavin
9	Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan	Unknown status	NCT02985710
10	Vascular Fundus Changes in Patients With High Probability of CCSVI (Chronic Cerebrospinal Venous Insufficiency)	Completed	NCT01356134
11	Evaluation of an Education Program for Patients With Hypermobility Type Ehlers-Danlos Syndrome	Completed	NCT02817490
12	Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue	Completed	NCT00270686
13	Opioid-Free Intravenous Anesthesia for Patients With Joint Hypermobility Syndrome Undergoing Craneo-Cervical Fixation: A Case-series Study Focused on Anti-hyperalgesic Approach	Completed	NCT04437589
14	IGF-I Stimulation of Collagen Synthesis in Ehlers-Danlos Patients	Completed	NCT01446783		mecasermin;Saline
15	Head Circumference Growth in Children With Ehlers-Danlos Syndrome Who Develop Dysautonomia ("POTS" -- Postural Orthostatic Tachycardia Syndrome)Later in Life -- a Retrospective Analysis	Completed	NCT01367977
16	Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome	Completed	NCT02435745
17	Identification of Plasmatic Biomarkers in Vascular Ehlers-Danlos Syndrome	Completed	NCT02165085
18	Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome	Completed	NCT02712060
19	Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders	Completed	NCT00001641
20	Establishment of Local Arterial Stiffness Normal Values (Carotid and Femoral) on Healthy Volunteers Using Supersonic Shear Imaging	Completed	NCT01096264
21	National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions	Completed	NCT01322165
22	Evaluation of the Effect of Custom Compression Garments on Standing Static Balance in Ehlers Danlos Syndrome	Recruiting	NCT03986229
23	Integrative Medicine for Hypermobility Spectrum Disorder (HSD) and Ehlers-Danlos (EDS) Syndromes: A Mixed-methods Feasibility Study	Recruiting	NCT04734041
24	Autonomic Neuropathy and Its Pathophysiology in Autoimmune Autonomic Neuropathies, Postural Orthostatic Tachycardia Syndrome and Ehlers Danlos Syndromes: Peripheral Autonomic Small Fiber Neuropathy or Central Autonomic Failure?	Recruiting	NCT04310644
25	Retuning the Nervous System in Youth With Chronic Pain	Recruiting	NCT03686748	Early Phase 1
26	Validity of Somatosensori Remediation for Postural Control in the Treatment of Ehlers-Danlos Syndrome Hypermobility Type (hEDS)	Recruiting	NCT04020107
27	Determine the Causative Genetic Variations in Patients With Ehlers-Danlos Syndrome	Recruiting	NCT03093493
28	Understanding Impaired Concentration, Attentional Deficits and Their Pathophysiology in Postural Orthostatic Tachycardia Syndrome (POTS) and Other Autonomic Neuropathies (POTSKog-Study Aachen)	Recruiting	NCT03681080
29	Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices	Recruiting	NCT02050113
30	Pathogenetic Basis of Aortopathy and Aortic Valve Disease	Recruiting	NCT03440697
31	Impact Study on Cerecare Compression Garments in the Treatment of Ehlers-Danlos Syndromes	Active, not recruiting	NCT03451188
32	Efficiency Clinical Study of NOVATEX MEDICAL Compression Garments in Patients With Ehlers-Danlos Syndrome	Active, not recruiting	NCT03330977
33	Standing Cognition and Co-morbidities of POTS Evaluation	Active, not recruiting	NCT03602482
34	Effects of a Multidisciplinary Outpatient Rehabilitation Program on Physical Capacity and Quality of Life in Patients With Ehlers-Danlos Syndrome.	Enrolling by invitation	NCT04680793
35	Origins and Impact of EDS in Connective Tissues and Skin	Enrolling by invitation	NCT02721797
36	Local Anesthetic Response in Ehlers-Danlos Syndrome (EDS) and Healthy Volunteers	Enrolling by invitation	NCT04036305		0.9% Sodium Chloride Injection;Lidocaine Injection 2%;Bupivacaine Injection 0.5%
37	Registry of Ehlers-Danlos Syndrome That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample	Enrolling by invitation	NCT04133272
38	Face Study of the Effects of Needling Using the Epistamp for the Improvement of Fine Lines, Deep Wrinkles, and Collagen Production.	Not yet recruiting	NCT04742803
39	Effectiveness of a 6-month Home-based Exercise Program for Treating Shoulder Instability in Patients With Hypermobile Ehlers-Danlos Syndrome (hEDS) or Hypermobility Spectrum Disorder (HSD): A Pilot Randomized Controlled Trial.	Terminated	NCT04666896

Search NIH Clinical Center for Ehlers-Danlos Syndrome

Cochrane evidence based reviews: ehlers-danlos syndrome

Sources

Genetic Tests for Ehlers-Danlos Syndrome

Genetic tests related to Ehlers-Danlos Syndrome:

#	Genetic test	Affiliating Genes
1	Ehlers-Danlos Syndrome ²⁹

Sources

Anatomical Context for Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

⁴⁰

Skin, Eye, Uterus, Colon, Liver, Small Intestine, Spleen

Sources

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome:

(showing 3336, show less) <

#	Title	Authors	PMID	Year
1	Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Syndrome. ⁶¹ ⁴²	Baderkhan H...Bjorck M	33223285	2021
2	Increased augmentation index in patients with Ehlers-Danlos syndrome. ⁶¹ ⁴²	Roeder M...Gaisl T	32933483	2020
3	Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. ²⁰ ⁶¹	Sobey G	24994860	2015
4	The Ehlers-Danlos syndrome. ⁶¹ ²⁰	Malfait F...De Paepe A	24443025	2014
5	Correlation between Oral Health-Related Quality of Life and Objectively Measured Oral Health in People with Ehlers-Danlos Syndromes. ⁴²	Oelerich O...Hanisch M	33171578	2020
6	A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. ⁶¹ ⁵⁴	Kosho T...Matsumoto N	20503305	2010
7	Tenascin-X increases the stiffness of collagen gels without affecting fibrillogenesis. ⁶¹ ⁵⁴	Margaron Y...Lethias C	20089348	2010
8	Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. ⁵⁴ ⁶¹	Plancke A...Khau Van Kien P	19455184	2009
9	Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). ⁵⁴ ⁶¹	Morisaki H...Morisaki T	19639654	2009
10	Ehlers-Danlos type IV in pregnancy with a history of myocardial infarction. ⁵⁴ ⁶¹	Ohkuchi A...Suzuki M	19751346	2009
11	Vascular Ehlers-Danlos syndrome--all three coronary artery spontaneous dissections. ⁶¹ ⁵⁴	Nakamura M...Aizawa T	19477391	2009
12	Determination of beta4-galactosyltransferase-7 activity using high-performance liquid chromatography-electrospray ionization tandem mass spectrometry. ⁶¹ ⁵⁴	Kuhn J...Gotting C	19133250	2009
13	Crystal structure of human type III collagen Gly991-Gly1032 cystine knot-containing peptide shows both 7/2 and 10/3 triple helical symmetries. ⁶¹ ⁵⁴	Boudko SP...Schumacher MA	18805790	2008
14	Vascular type of Ehlers-Danlos syndrome. ⁵⁴ ⁶¹	Watanabe A...Shimada T	19023163	2008
15	Pseudoaneurysm of the peroneal artery: presentation of Ehlers-Danlos syndrome type IV. ⁵⁴ ⁶¹	Mandeville K...Renton S	18485758	2008
16	FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts. ⁵⁴ ⁶¹	Zoppi N...Colombi M	18405669	2008
17	Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice. ⁵⁴ ⁶¹	Egging DF...Schalkwijk J	18335242	2008
18	Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome. ⁶¹ ⁵⁴	Gotte M...Kiesel L	18158310	2008
19	Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. ⁵⁴ ⁶¹	Mataix J...Climent JM	18284404	2008
20	Natural variation in four human collagen genes across an ethnically diverse population. ⁵⁴ ⁶¹	Chan TF...Kwok PY	18272325	2008
21	A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections. ⁶¹ ⁵⁴	Lee ST...Ki CS	18389341	2008
22	Novel localization of tenascin-X in adult mouse leptomeninges and choroid plexus. ⁵⁴ ⁶¹	Imura K...Sato I	18595676	2008
23	Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. ⁵⁴ ⁶¹	Voermans NC...van Engelen BG	17702048	2007
24	The glycosaminoglycan chain of decorin plays an important role in collagen fibril formation at the early stages of fibrillogenesis. ⁶¹ ⁵⁴	Ruhland C...Seidler DG	17651433	2007
25	Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome. ⁵⁴ ⁶¹	Blaker H...Autschbach F	17487505	2007
26	Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. ⁶¹ ⁵⁴	Malfait F...De Paepe A	17211858	2007
27	Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. ⁵⁴ ⁶¹	Cabral WA...Marini JC	17206620	2007
28	Wound healing in tenascin-X deficient mice suggests that tenascin-X is involved in matrix maturation rather than matrix deposition. ⁵⁴ ⁶¹	Egging D...Peeters A	17453911	2007
29	Interactions of human tenascin-X domains with dermal extracellular matrix molecules. ⁶¹ ⁵⁴	Egging D...Schalkwijk J	17033827	2007
30	A model of tenascin-X integration within the collagenous network. ⁵⁴ ⁶¹	Lethias C...Exposito JY	17078949	2006
31	A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations. ⁶¹ ⁵⁴	Demirogullari B...Kale N	16863833	2006
32	Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). ⁵⁴ ⁶¹	Seidler DG...Gotte M	16583246	2006
33	Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. ⁶¹ ⁵⁴	Malfait F...De Paepe A	16816023	2006
34	Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. ⁵⁴ ⁶¹	Wenstrup RJ...Birk DE	16492673	2006
35	Abdominal aortic aneurysm is associated with high serum levels of tenascin-X and decreased aneurysmal tissue tenascin-X. ⁵⁴ ⁶¹	Zweers MC...Schalkwijk J	16567571	2006
36	Dermal connective tissue development in mice: an essential role for tenascin-X. ⁵⁴ ⁶¹	Egging DF...Schalkwijk J	16331473	2006
37	Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. ⁶¹ ⁵⁴	Makareeva E...Leikin S	16407265	2006
38	Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. ⁶¹ ⁵⁴	Gomez-Garre P...Serratosa JM	15994863	2006
39	Structural abnormalities of the cornea and lid resulting from collagen V mutations. ⁵⁴ ⁶¹	Segev F...Birk DE	16431952	2006
40	Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome. ⁵⁴ ⁶¹	Yassin OM...Rihani FB	16937863	2006
41	Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. ⁶¹ ⁵⁴	Bristow J...Schalkwijk J	16278880	2005
42	Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). ⁶¹ ⁵⁴	Giunta C...Steinmann B	15979919	2005
43	Caffey disease: an unlikely collagenopathy. ⁵⁴ ⁶¹	Glorieux FH	15864344	2005
44	Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. ⁵⁴ ⁶¹	Lindor NM...Bristow J	15793839	2005
45	Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). ⁵⁴ ⁶¹	Giunta C...Steinmann B	15666309	2005
46	Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene. ⁶¹ ⁵⁴	Gotte M...Kresse H	15859521	2005
47	Transplantation of reconstructed human skin on nude mice: a model system to study expression of human tenascin-X and elastic fiber components. ⁶¹ ⁵⁴	Zweers MC...Lamme EN	15558324	2005
48	Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. ⁵⁴ ⁶¹	Sheen VL...Walsh CA	15668422	2005
49	The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). ⁶¹ ⁵⁴	Malfait F...De Paepe A	15389701	2004
50	Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. ⁶¹ ⁵⁴	Colige A...Nusgens BV	15373769	2004
51	Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. ⁶¹ ⁵⁴	Persikov AV...Brodsky B	15365990	2004
52	A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. ⁵⁴ ⁶¹	Faiyaz-Ul-Haque M...Teebi AS	15211654	2004
53	Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. ⁵⁴ ⁶¹	Schwarze U...Byers PH	15077201	2004
54	Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome. ⁵⁴ ⁶¹	Wenstrup RJ...Birk DE	15095409	2004
55	A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X. ⁵⁴ ⁶¹	Peeters AC...Schalkwijk J	15366699	2004
56	Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. ⁶¹ ⁵⁴	Zweers MC...Schalkwijk J	15102077	2004
57	Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin. ⁵⁴ ⁶¹	Zoppi N...Colombi M	14970208	2004
58	Exclusion of candidate genes in a family with arterial tortuosity syndrome. ⁵⁴ ⁶¹	Gardella R...Colombi M	15054833	2004
59	Management of spontaneous colonic perforation in Ehlers-Danlos syndrome type IV. ⁶¹ ⁵⁴	Fuchs JR...Fishman SJ	14966763	2004
60	Vascular Ehlers-Danlos syndrome. ⁶¹ ⁵⁴	Germain DP...Herrera-Guzman Y	15127738	2004
61	Tenascins: regulation and putative functions during pathological stress. ⁶¹ ⁵⁴	Chiquet-Ehrismann R...Chiquet M	12845616	2003
62	Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase. ⁵⁴ ⁶¹	Wang WM...Greenspan DS	12646579	2003
63	Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. ⁵⁴ ⁶¹	Kroes HY...van Essen AJ	12694234	2003
64	Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations. ⁵⁴ ⁶¹	Furukawa K...Okajima T	12417421	2002
65	Localization and analysis of the principal promoter for human tenascin-X. ⁵⁴ ⁶¹	Wijesuriya SD...Miller WL	12376099	2002
66	Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions. ⁶¹ ⁵⁴	Koppens PF...Degenhart HJ	12354783	2002
67	Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy. ⁵⁴ ⁶¹	Hassan I...Gloviczki P	12173720	2002
68	Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. ⁵⁴ ⁶¹	Giunta C...Steinmann B	11992482	2002
69	Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. ⁶¹ ⁵⁴	Mao JR...Bristow J	11925569	2002
70	Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3. ⁶¹ ⁵⁴	Colige A...Nusgens BV	11741898	2002
71	Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. ⁵⁴ ⁶¹	Watanabe A...Kuriyama T	11843319	2002
72	Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. ⁶¹ ⁵⁴	Schwarze U...Byers PH	11577371	2001
73	A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. ⁵⁴ ⁶¹	Schalkwijk J...Bristow J	11642233	2001
74	Deficiency of the decorin core protein in the variant form of Ehlers-Danlos syndrome with chronic skin ulcer. ⁶¹ ⁵⁴	Wu J...Shinkai H	11532373	2001
75	Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis. ⁶¹ ⁵⁴	Fernandes RJ...Apte SS	11408482	2001
76	Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene. ⁵⁴ ⁶¹	Jansen T...Altmeyer P	11359405	2001
77	Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis. ⁵⁴ ⁶¹	Nishiyama Y...Katayama Y	11168790	2001
78	Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays. ⁶¹ ⁵⁴	Giunta C...Steinmann B	10923041	2000
79	COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. ⁵⁴ ⁶¹	Wenstrup RJ...Cole WG	10777716	2000
80	Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. ⁶¹ ⁵⁴	Nuytinck L...De Paepe A	10739762	2000
81	Dexamethasone-induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin. ⁶¹ ⁵⁴	De Panfilis G...Colombi M	10651716	2000
82	Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? ⁶¹ ⁵⁴	Giunta C...Steinmann B	10602121	2000
83	Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII. ⁶¹ ⁵⁴	Raff ML...Byers PH	10982177	2000
84	Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. ⁵⁴ ⁶¹	Colige A...Nusgens BV	10417273	1999
85	Ehlers-Danlos syndrome type VII: clinical features and molecular defects. ⁶¹ ⁵⁴	Giunta C...Steinmann B	10073586	1999
86	Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives. ⁶¹ ⁵⁴	Gilchrist D...Byers PH	10051163	1999
87	Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV. ⁶¹ ⁵⁴	Collins MH...Byers PH	9841712	1999
88	Cloning and characterization of a third human lysyl hydroxylase isoform. ⁶¹ ⁵⁴	Passoja K...Kivirikko KI	9724729	1998
89	Genetic diseases with rheumatic manifestations in children. ⁶¹ ⁵⁴	Prahalad S...Colbert RA	9746866	1998
90	Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV. ⁵⁴ ⁶¹	Milewicz DM	9649943	1998
91	A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI. ⁶¹ ⁵⁴	Pajunen L...Myllyla R	9502428	1998
92	Effect of dexamethasone on the assembly of the matrix of fibronectin and on its receptors organization in Ehlers-Danlos syndrome skin fibroblasts. ⁶¹ ⁵⁴	Zoppi N...Colombi M	10452818	1998
93	Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV. ⁵⁴ ⁶¹	Schwarze U...Byers PH	9399899	1997
94	Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. ⁵⁴ ⁶¹	Byers PH...Schwarze U	9295084	1997
95	Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. ⁶¹ ⁵⁴	Burch GH...Bristow J	9288108	1997
96	Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes. ⁶¹ ⁵⁴	Burrows NP...Pope FM	9499606	1997
97	Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. ⁶¹ ⁵⁴	Liu X...Jaenisch R	9050868	1997
98	Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. ⁶¹ ⁵⁴	De Paepe A...Naeyaert JM	9042913	1997
99	Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. ⁶¹ ⁵⁴	Smith LT...Byers PH	9036918	1997
100	Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. ⁵⁴ ⁶¹	Heikkinen J...Myllyla R	8981946	1997
101	An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. ⁵⁴ ⁶¹	Nicholls AC...Pope FM	8950675	1996
102	A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). ⁵⁴ ⁶¹	Wenstrup RJ...Cole WG	8923000	1996
103	COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. ⁵⁴ ⁶¹	Pope FM...Richards AJ	8881656	1996
104	A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. ⁵⁴ ⁶¹	Toriello HV...Greenspan DS	8673139	1996
105	Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation. ⁶¹ ⁵⁴	Mackay K...Dalgleish R	8884076	1996
106	Collagen peptides in osteogenesis imperfecta, idiopathic juvenile osteoporosis and Ehlers--Danlos syndrome. ⁶¹ ⁵⁴	Proszynska K...Lorenc RS	8816205	1996
107	Histomorphometric parameters and susceptibility to neutrophil elastase degradation of skin elastic fibres from healthy individuals and patients with Marfan syndrome, Ehlers-Danlos type IV, and pseudoxanthoma elasticum. ⁵⁴ ⁶¹	Berteretche MV...Godeau G	8547032	1995
108	Cerebrovascular complications in Ehlers-Danlos syndrome type IV. ⁶¹ ⁵⁴	North KN...Byers PH	8526472	1995
109	Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix. ⁵⁴ ⁶¹	Chiodo AA...Bateman JF	7487954	1995
110	Myocardial infarction resulting from coronary artery dissection in an adolescent with Ehlers-Danlos syndrome type IV due to a type III collagen mutation. ⁵⁴ ⁶¹	Ades LC...Bateman JF	7546986	1995
111	Structure and expression of the human lysyl hydroxylase gene (PLOD): introns 9 and 16 contain Alu sequences at the sites of recombination in Ehlers-Danlos syndrome type VI patients. ⁶¹ ⁵⁴	Heikkinen J...Myllyla R	7713497	1994
112	The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. ⁵⁴ ⁶¹	Carr AJ...Cole WG	8071956	1994
113	Correction of the defective extracellular matrix of Ehlers-Danlos syndrome skin fibroblasts by dexamethasone. ⁵⁴ ⁶¹	Moro L...Barlati S	8186768	1994
114	Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. ⁶¹ ⁵⁴	Nuytinck L...Leroy J	8019562	1994
115	The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV. ⁵⁴ ⁶¹	Richards A...Pope FM	8411057	1993
116	Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring. ⁵⁴ ⁶¹	Milewicz DM...Byers PH	8317500	1993
117	Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV. ⁶¹ ⁵⁴	Narcisi P...Kuivaniemi H	8098182	1993
118	A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV. ⁵⁴ ⁶¹	Lloyd J...Pope FM	8320698	1993
119	A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. ⁶¹ ⁵⁴	Hautala T...Myllyla R	8449506	1993
120	Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV. ⁶¹ ⁵⁴	Wu Y...Prockop DJ	8477261	1993
121	A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation. ⁶¹ ⁵⁴	Richards AJ...Pope FM	1352273	1992
122	A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. ⁵⁴ ⁶¹	Chiodo AA...Cole WG	1556139	1992
123	A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV. ⁵⁴ ⁶¹	Richards AJ...Pope FM	1370809	1992
124	Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele. ⁵⁴ ⁶¹	Sillence DO...Cole WG	1757960	1991
125	Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. ⁵⁴ ⁶¹	D'Alessio M...Hollister DW	1867198	1991
126	Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. ⁶¹ ⁵⁴	Chan D...Cole WG	1905723	1991
127	Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. ⁶¹ ⁵⁴	Lee B...Superti-Furga A	1998337	1991
128	A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. ⁶¹ ⁵⁴	Vasan NS...Prockop DJ	1990839	1991
129	Clinical screening for collagen defects in connective tissue diseases. ⁵⁴ ⁶¹	Cohn DH...Byers PH	2286029	1990
130	A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. ⁵⁴ ⁶¹	Cole WG...Bateman JF	2145268	1990
131	Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others. ⁶¹ ⁵⁴	Kuivaniemi H...Prockop DJ	2365710	1990
132	Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. ⁶¹ ⁵⁴	Kontusaari S...Prockop DJ	2349939	1990
133	[Structural characteristics of collagens from the skin and rib cartilage of patients with Ehlers-Danlos syndrome type II]. ⁶¹ ⁵⁴	Sokolov BP...Kalinin VN	2343586	1990
134	Oxidative stress in genetically triggered thoracic aortic aneurysm: role in pathogenesis and therapeutic opportunities. ⁶¹	Portelli SS...Robertson EN	33715602	2021
135	Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases. ⁶¹	Tucker-Bartley A...Upadhyay J	33581222	2021
136	Cardiogenetics: genetic testing in the diagnosis and management of patients with aortic disease. ⁶¹	Thakker PD...Braverman AC	33334864	2021
137	When POTS is the tip of the iceberg: Rare cases of dysautonomia as a possible manifestation of another disorder. ⁶¹	Blitshteyn S	33459162	2021
138	Audit of Gastrointestinal Manifestations in Patients with Loeys-Dietz Syndrome and Vascular Ehlers-Danlos Syndrome. ⁶¹	Wang XJ...Camilleri M	32306189	2021
139	Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts. ⁶¹	Chiarelli N...Colombi M	33383104	2021
140	[Ehlers-Danlos syndrome: A case report]. ⁶¹	Jomaa R...Ramdani T	33388190	2021
141	Capsulorraphy with Achilles allograft augmentation for shoulder instability in patients with Ehlers-Danlos syndrome. ⁶¹	Schoorl TJ...Sanchez-Sotelo J	32721506	2021
142	Endoplasmic reticulum stress and collagenous formation anomalies in vascular-type Ehlers-Danlos syndrome via electron microscopy. ⁶¹	Ishikawa S...Igawa K	33523542	2021
143	Deconstructing and reconstructing joint hypermobility on an evo-devo perspective. ⁶¹	Castori M	33668066	2021
144	The effectiveness of conservative interventions for the management of syndromic hypermobility: a systematic literature review. ⁶¹	Palmer S...House S	32681365	2021
145	Autoimmune Small Fiber Neuropathy Associated With Ehlers-Danlos Syndrome Treated With Intravenous Immunoglobulins. ⁶¹	Cook MK...Jordan M	33596000	2021
146	Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type: a qualitative interview study. ⁶¹	Bennett SE...Palmer S	31318301	2021
147	More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome. ⁶¹	Dhooge T...Malfait F	33739556	2021
148	Multiple odontogenic keratocysts in Ehlers-Danlos syndrome: a rare case report. ⁶¹	Starzynska A...Jereczek-Fossa BA	33750365	2021
149	Shoulder Arthroplasty is a Viable Option in Patients with Ehlers-Danlos Syndrome. ⁶¹	Rogers T...Schoch BS	33812023	2021
150	Vascular Ehlers-Danlos syndrome (vEDS): CT and histologic findings of pleural and lung parenchymal damage. ⁶¹	Boussouar S...Sanchez O	33651202	2021
151	Inferior vena cava aneurysm in a patient with Ehlers-Danlos syndrome. ⁶¹	Wheen P...Nicol E	33745857	2021
152	Novel gross deletion mutation c.-105_4042+498del in the TNXB gene in a Japanese woman with classical-like Ehlers-Danlos syndrome: A case of uneventful pregnancy and delivery. ⁶¹	Watanabe S...Itoh M	33721335	2021
153	Patient perspectives on employment participation in the "hypermobile Ehlers-Danlos syndrome". ⁶¹	De Baets S...Van de Velde D	31287330	2021
154	Glycine substitution mutation of COL5A1 in classic Ehlers-Danlos syndrome: a case report and literature review. ⁶¹	Gong Z...Lin Z	33656776	2021
155	Spontaneous Cervical Artery Dissection in Vascular Ehlers-Danlos Syndrome: A Cohort Study. ⁶¹	Adham S...Frank M	33641388	2021
156	Ehlers-Danlos syndrome-related genes and serum strontium, zinc, and lithium levels in generalized joint hypermobility: a case-control study. ⁶¹	Tuna F...Doganlar O	31594391	2021
157	Intraperitoneal bladder rupture in a young child with vascular Ehlers-Danlos syndrome. ⁶¹	Nanduri R...Morris SA	33586854	2021
158	Progressive cerebral and coronary aneurysms in the original two patients with Kosaki overgrowth syndrome. ⁶¹	Takenouchi T...Kosaki K	33382209	2021
159	A case of vascular Ehlers-Danlos syndrome with a ruptured hepatic artery after surgical treatment of peritonitis caused by the perforation of the colon. ⁶¹	Kakinuma D...Yoshida H	33755833	2021
160	Prevalence of joint hypermobility syndromes in pediatric postural orthostatic tachycardia syndrome. ⁶¹	Boris JR...Bernadzikowski T	33388686	2021
161	A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases. ⁶¹	Salvi A...Bartoli M	33733462	2021
162	ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders. ⁶¹	Steinle J...Butler MG	33369194	2021
163	Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genes. ⁶¹	Fransen E...Van Camp G	33737726	2021
164	A Case of Diffuse Pulmonary Ossification with Connective Tissue Weakness Potentially Due to Vascular Ehlers-Danlos Syndrome. ⁶¹	Yoshizumi Y...Kawabata Y	33776002	2021
165	The first experience of denosumab therapy on patients with Ehlers-Danlos syndrome and osteoporosis: detailed observation of two patients. ⁶¹	Yasukawa S...Takahashi J	32692295	2021
166	Spermidine-induced recovery of human dermal structure and barrier function by skin microbiome. ⁶¹	Kim G...Lee DG	33608630	2021
167	Impact of joint hypermobility syndrome on gastric accommodation and nutrient tolerance in functional dyspepsia. ⁶¹	Carbone F...Tack J	33528850	2021
168	Noniatrogenic Medial Patellar Dislocations: Case Series and International Patellofemoral Study Group Experience. ⁶¹	Loeb AE...Cosgarea AJ	33748301	2021
169	Genetic counseling following direct-to consumer genetic testing: Consumer perspectives. ⁶¹	Marzulla T...Uhlmann WR	32648332	2021
170	Peripheral nerve blocks in children and adolescents with Ehlers-Danlos syndrome hypermobility type. ⁶¹	Vecchione T...Boretsky K	32972920	2021
171	[Spontaneous coronary artery dissection]. ⁶¹	Wurdinger M...Templin-Ghadri JR	33538629	2021
172	Pulmonary Manifestations of Skin Disorders in Children. ⁶¹	Cohen BA...Turcios NL	33228937	2021
173	A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report. ⁶¹	Conti R...Barbi E	33579342	2021
174	Age Pathognomonic Indicators of Injury Predisposition as a Basis for Public Health Preservation during Physical Activity. ⁶¹	Sankova MV...Sinelnikov MY	33670801	2021
175	A giant inguinal hernia in a patient with Ehlers-Danlos syndrome. ⁶¹	Quarto G...Milone M	33617482	2021
176	Atypical cause of intestinal pseudo-obstruction: Ehlers-Danlos syndrome. ⁶¹	Ruiz Moreno M...Martinez Crespo JJ	33545247	2021
177	Suicidal Behaviors in Women With the Hypermobile Ehlers-Danlos Syndrome. ⁶¹	Baeza-Velasco C...Courtet P	33596399	2021
178	Rome IV Functional Gastrointestinal Disorders and Health Impairment in Subjects With Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome. ⁶¹	Lam CY...Aziz I	32109633	2021
179	Systematic investigation of the skin in Chst14-/- mice: A model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14). ⁶¹	Hirose T...Watanabe T	32601684	2021
180	Prospective clinical investigations of children with periodontal Ehlers-Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature. ⁶¹	Kapferer-Seebacher I...van Dijk FS	33005042	2021
181	A 21-year-old woman with Ehlers-Danlos syndrome and persistent lightheadedness. ⁶¹	Qarajeh R...Kureshi F	33526462	2021
182	Ehlers-Danlos Syndrome Type IV - Anaesthetic Considerations. ⁶¹	Kazakov D...Stefanov C	33650410	2021
183	Medical Therapy Affects the Arteriopathy of Vascular Ehlers-Danlos Syndrome. ⁶¹	Kelly J...Lyons O	33223282	2021
184	Exploring the underlying mechanism of pain-related disability in hypermobile adolescents with chronic musculoskeletal pain. ⁶¹	van Meulenbroek T...Verbunt JA	32862151	2021
185	Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes. ⁶¹	Fager Ferrari M...Leinoe E	33161638	2021
186	Beyond bones: The relevance of variants of connective tissue (hypermobility) to fibromyalgia, ME/CFS and controversies surrounding diagnostic classification: an observational study. ⁶¹	Eccles JA...Davies KA	33479068	2021
187	Role of Clinical Genetic Testing in the Management of Aortopathies. ⁶¹	Harris SL...Lindsay ME	33475873	2021
188	Pregnancy outcome in thoracic aortic disease data from the Registry Of Pregnancy And Cardiac disease. ⁶¹	Campens L...ROPAC investigators group	33468574	2021
189	Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons. ⁶¹	Islam M...Gershwin ME	33437956	2021
190	Prevalence of ADHD and Autism Spectrum Disorder in Children with Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome: A Retrospective Study. ⁶¹	Kindgren E...Knez R	33603376	2021
191	Preservation of Posterior Tibial Artery Flow Following Dissection With Associated Aneurysmal Degeneration in Ehlers-Danlos Syndrome Type IV Treated With Flow-Diverting Stent. ⁶¹	Plotnik AN...Moriarty J	33503502	2021
192	Treatment of Severe Emotionally Unstable Personality Disorder with Comorbid Ehlers-Danlos Syndrome and Functional Neurological Disorder in an Inpatient Setting: A Case for Specialist Units without Restrictive Interventions. ⁶¹	Henry J...Zimbron J	33728084	2021
193	Absence of Myocardial Support at the Base of the Left Coronary Aortic Sinus in a Patient With Ehlers-Danlos Syndrome. ⁶¹	Toh H...Hirata KI	33268661	2021
194	The management of pain and hypermobility in Ehlers-Danlos syndrome. Comment on "Pain in Ehlers-Danlos syndrome" by Benistan et al. Joint Bone Spine. 2020;87:199-201. ⁶¹	Bitterman A...Clancy D	33130233	2021
195	Collagen XII mediated cellular and extracellular mechanisms regulate establishment of tendon structure and function. ⁶¹	Izu Y...Birk DE	33096204	2021
196	Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome. ⁶¹	Stock F...Kapferer-Seebacher I	33498938	2021
197	Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients. ⁶¹	Madhuri V...B A	32770541	2021
198	Ehlers-Danlos syndrome: molecular and clinical characterization of TNXA/TNXB chimeras in congenital adrenal hyperplasia. ⁶¹	Marino R...Belgorosky A	33482002	2021
199	Prevalence of gastrointestinal, cardiovascular, autonomic, and allergic manifestations in hospitalized patients with Ehlers-Danlos syndrome: a case-control study. ⁶¹	Brooks RS...Blitshteyn S	33410480	2021
200	Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome. ⁶¹	Errichiello E...Zuffardi O	33189937	2021
201	Clinical Features and Associations of Descending Perineum Syndrome in 300 Adults with Constipation in Gastroenterology Referral Practice. ⁶¹	Wang XJ...Camilleri M	32666237	2020
202	Management of a Complicated Internal Herniation After Roux-en-Y Gastric Bypass in a 28-Week Pregnant Woman. ⁶¹	Thomopoulos T...Suter M	32996100	2020
203	Endoscopic Microvascular Decompression for Vagoglossopharyngeal Neuralgia. ⁶¹	Blue R...Lee JYK	33520548	2020
204	Formation of a traumatic air cyst and ensuing hemopneumothorax during CT angiography in a patient with Ehlers-Danlos syndrome. ⁶¹	Michell H...Morris C	33299598	2020
205	Maintenance Intravenous Immunoglobulin Treatment for Multiple Sclerosis Coexisting with Ehlers-Danlos Syndrome and Muir-Torre Syndrome: A Case Study. ⁶¹	Gupta S...Constantinescu CS	32780270	2020
206	Spinopelvic Instability in Conversion Total Hip Arthroplasty: A Complicated Case of Loeys-Dietz Syndrome. ⁶¹	De Leon J...Buttacavoli F	33385043	2020
207	The Chalice Sign : Characteristic Morphology of the Cervical Carotid Bifurcation in Patients with Loeys-Dietz Syndrome. ⁶¹	Benson JC...Brinjikji W	31552453	2020
208	Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome. ⁶¹	Jayarajan SN...Jim J	32423364	2020
209	A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. ⁶¹	Lao Q...Merke DP	33332743	2020
210	Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion. ⁶¹	Skarp S...Mannikko M	32722848	2020
211	Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation. ⁶¹	Almatrafi A...Basit S	33693443	2020
212	Mechanisms and management of gastrointestinal symptoms in postural orthostatic tachycardia syndrome. ⁶¹	Tu Y...Mar PL	33140561	2020
213	Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome. ⁶¹	Kalisch L...Baeza-Velasco C	31060411	2020
214	An international survey on clinicians' perspectives on the diagnosis and management of chronic intestinal pseudo-obstruction and enteric dysmotility. ⁶¹	Vasant DH...Lal S	32696607	2020
215	Massive Pulmonary Thrombosis Following Haemoptysis in Type IV Ehlers-Danlos Syndrome. ⁶¹	Mendonca Almeida L...Oliveira JP	33478827	2020
216	Cosegregation of postural orthostatic tachycardia syndrome, hypermobile Ehlers-Danlos syndrome, and mast cell activation syndrome. ⁶¹	Vadas P...Walsh S	32798618	2020
217	Functional gastrointestinal disorders are increased in joint hypermobility-related disorders with concomitant postural orthostatic tachycardia syndrome. ⁶¹	Tai FWD...Aziz I	32803794	2020
218	Siblings with vascular Ehlers-Danlos syndrome inherited via maternal mosaicism. ⁶¹	Yokoi T...Kurosawa K	33368646	2020
219	VETCOSED study: efficacy of compressive garments for patients with hypermobile Ehlers-Danlos syndrome on shoulder stability and muscles strength. ⁶¹	Chaleat-Valayer E...Touzet S	33353449	2020
220	Pelvic Girdle Pain, Hypermobility Spectrum Disorder and Hypermobility-Type Ehlers-Danlos Syndrome: A Narrative Literature Review. ⁶¹	Ali A...Giannoudis PV	33317183	2020
221	Ehlers-Danlos syndrome type IV: a case report of a rare cause of spontaneous sigmoid perforation and enteroatmospheric fistulae in a child. ⁶¹	Kodikara H...McLeod E	33289853	2020
222	Altered multi-segment ankle and foot kinematics during gait in patients with Hypermobile Ehlers-Danlos Syndrome/Hypermobility spectrum disorder. A case-control study. ⁶¹	Vermeulen S...Rombaut L	33275840	2020
223	Ehlers-Danlos Syndrome in Pregnancy: A Review. ⁶¹	Kang J...Jaleel S	33113401	2020
224	A randomised controlled trial of heavy shoulder strengthening exercise in patients with hypermobility spectrum disorder or hypermobile Ehlers-Danlos syndrome and long-lasting shoulder complaints: study protocol for the Shoulder-MOBILEX study. ⁶¹	Liaghat B...Juul-Kristensen B	33261635	2020
225	Benefits of ketogenic diet in a pediatric patient with Ehlers-Danlos syndrome and STXBP1-related epileptic encephalopathy. ⁶¹	Unalp A...Akisin Z	33272087	2020
226	Multivessel endovascular therapy for undiagnosed vascular type Ehlers-Danlos syndrome. Successful percutaneous transcatheter coil embolization of hepatic artery pseudoaneurysm with stenting of right renal and iliac arteries in emergency setting. ⁶¹	Moramarco LP...Arbustini E	33299587	2020
227	Successful repair of a spontaneous scleral rupture in a patient with type VI Ehlers-Danlos syndrome. ⁶¹	Lozada R...Oliver AL	33102932	2020
228	Electromyographic muscle activity and three-dimensional scapular kinematics in patients with multidirectional shoulder instability. ⁶¹	Spanhove V...De Wandele I	33253470	2020
229	A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia. ⁶¹	Richer J...Ganesh SK	32938213	2020
230	Republished: Successful treatment of direct carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV without arterial puncture: the transvenous triple-overlay embolization (TAILOREd) technique. ⁶¹	Huynh TJ...Hallam DK	33060177	2020
231	Current management of the vascular subtype of Ehlers-Danlos syndrome. ⁶¹	Benrashid E...Ohman JW	32941194	2020
232	Successful endovascular treatment of multiple systemic aneurysms in a patient with vascular Ehlers-Danlos syndrome. ⁶¹	Li X...Chen G	32318814	2020
233	Vascular Ehlers-Danlos syndrome patient with a novel COL3A1 gene deletion mutation without alteration in the triple sequence of (Gly-X-Y) repeat. ⁶¹	Hayashi S...Igawa K	32860234	2020
234	The use of selective laser melting in the fabrication of maxillary and mandibular metal base complete dentures for a patient with Ehlers-Danlos syndrome: A clinical report. ⁶¹	Azpiazu-Flores FX...Zheng F	31955833	2020
235	Neuromuscular Activation Differences During Gait in Patients With Ehlers-Danlos Syndrome and Healthy Adults. ⁶¹	Robbins SM...Hazel EM	31498548	2020
236	Surgical management of vascular Ehlers-Danlos syndrome and its challenges: a case report. ⁶¹	da Rocha de Sousa F...Abbassi Z	33277910	2020
237	Use of complementary therapies for chronic pain management in patients with reported Ehlers-Danlos syndrome or hypermobility spectrum disorders. ⁶¹	Demes JS...Taylor MRG	32909698	2020
238	Arterial complications in classical Ehlers-Danlos syndrome: a case series. ⁶¹	Angwin C...Ghali N	32467296	2020
239	Management of Spontaneous Liver Hematoma in Ehlers-Danlos Syndrome Type IV: A Case Report. ⁶¹	Imp B...Narayanan A	33482943	2020
240	Pain drawings as a diagnostic tool for the differentiation between two pain-associated rare diseases (Ehlers-Danlos-Syndrome, Guillain-Barré-Syndrome). ⁶¹	Wester L...Szczypien N	33203450	2020
241	Characterization of syndromic, nonsyndromic familial, and sporadic type B aortic dissection. ⁶¹	Shalhub S...Starnes BW	33249204	2020
242	Posterior Spinal Fusion for Severe Spinal Deformities in Musculocontractural Ehlers-Danlos Syndrome: Detailed Observation of a Novel Case and Review of 2 Reported Cases. ⁶¹	Uehara M...Takahashi J	32822956	2020
243	Impact of heritable disorders of connective tissue on daily life of children: Parent perspectives. ⁶¹	Wesley A...Pacey V	33244831	2020
244	3d phase-contrast nanotomography of unstained human skin biopsies may identify morphological differences in the dermis and epidermis between subjects. ⁶¹	Eckermann M...Ohlsson B	33022848	2020
245	Recommendations From the Twitter Hashtag #DoctorsAreDickheads: Qualitative Analysis. ⁶¹	Sharma AE...Sarkar U	33112246	2020
246	Social Media Use Among Young Adults With Connective Tissue Disorders: Cross-Sectional Pilot Study. ⁶¹	Kelleher EF...Moreno MA	33124992	2020
247	Psychiatric Disorder in Postural Orthostatic Tachycardia Syndrome and Ehlers-Danlos Syndrome-Hypermobility Type. ⁶¹	Yahya AS...Khawaja S	33125200	2020
248	Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome. ⁶¹	Syx D...Malfait AM	32483055	2020
249	A rare case report of Horner syndrome revealing an internal carotid artery dissection in a patient with Ehlers-Danlos syndrome. ⁶¹	Grosse JP...Martel A	32800415	2020
250	Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1. ⁶¹	Chiu WC...Kuo YT	33109150	2020
251	Proteomic exploration of cystathionine β-synthase deficiency: implications for the clinic. ⁶¹	Jakubowski H	33320032	2020
252	Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing. ⁶¹	Ritelli M...Colombi M	32720758	2020
253	The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation. ⁶¹	Ni X...Xia W	33129265	2020
254	Setting a research agenda for vascular Ehlers-Danlos syndrome using a patient and stakeholder engagement model. ⁶¹	Sage L...Vascular Ehlers-Danlos Syndrome Research Collaborative	32115322	2020
255	Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility. ⁶¹	Green C...van Dijk FS	32572181	2020
256	Communication of genetic information to at-risk relatives during the multidisciplinary monitoring of vascular Ehlers-Danlos syndrome in a French referral clinic. ⁶¹	Mazzella JM...Jeunemaitre X	31903687	2020
257	Cardiac involvement in classical or hypermobile Ehlers-Danlos syndrome is uncommon. ⁶¹	Paige SL...Collins RT	32518415	2020
258	A Heterozygous Missense Variant in the COL5A2 in Holstein Cattle Resembling the Classical Ehlers-Danlos Syndrome. ⁶¹	Jacinto JGP...Drogemuller C	33143196	2020
259	Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness. ⁶¹	Brisset M...Malfatti E	32988710	2020
260	Carpometacarpal Arthroplasty and Ulnar Collateral Ligament Reconstruction in a Patient with Suspected Ehlers-Danlos Syndrome: A Case Report and Review of the Literature. ⁶¹	Samona S...Palazzo M	33335376	2020
261	Immediate and 6-week after effects of a rehabilitation program for Ehlers-Danlos syndrome hypermobile type patients: A retrospective study. ⁶¹	Hakimi A...Mucci P	32738018	2020
262	Finger orthoses for management of joint hypermobility disorders: Relative effects on hand function and cognitive load. ⁶¹	Jensen AM...Ramstrand N	32996434	2020
263	Enteroatmospheric fistula repair in Ehlers-Danlos syndrome type IV: a novel management technique using ABRA device. ⁶¹	Zubair O...Slater K	32967950	2020
264	Diversity in heritable disorders of connective tissue at a single center. ⁶¹	Hsu RH...Lee NC	32862725	2020
265	Connective Tissue Abnormalities in Patients with Ruptured Intracranial Aneurysms and No Known Systemic Connective Tissue Disorder. ⁶¹	Yerramilli SK...Chatterjee D	32553603	2020
266	Pain due to Ehlers-Danlos Syndrome Is Associated with Deficit of the Endogenous Pain Inhibitory Control. ⁶¹	Leone CM...Truini A	32176287	2020
267	Primary Total Hip Arthroplasty in Patients With Ehlers-Danlos Syndrome: A Retrospective Matched-Cohort Study. ⁶¹	Guier C...Wilke B	32577483	2020
268	Bariatric Surgery is feasible in patients with Ehlers-Danlos Syndrome. ⁶¹	Verdure L...Blanchard C	32417148	2020
269	Symptom complaints and impact on functioning in youth with hypermobile Ehlers-Danlos syndrome. ⁶¹	Tran ST...Tinkle BT	31370685	2020
270	Ultrastructure study of skin fibroblasts in patients with Ehlers-Danlos Syndrome (EDS): preliminary results. ⁶¹	Celli M...Giustini S	32901788	2020
271	Pain Symptomatology and Management in Pediatric Ehlers-Danlos Syndrome: A Review. ⁶¹	Feldman ECH...Greenley RN	32967103	2020
272	Psychosocial Influence of Ehlers-Danlos Syndrome in Daily Life of Patients: A Qualitative Study. ⁶¹	Palomo-Toucedo IC...Dominguez-Maldonado G	32899328	2020
273	Understanding hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorders in the context of childbearing: An international qualitative study. ⁶¹	Pezaro DS...Reinhold DE	32535291	2020
274	Surgical Management of Shoulder and Knee Instability in Patients with Ehlers-Danlos Syndrome: Joint Hypermobility Syndrome. ⁶¹	Homere A...Hatch GF	32904109	2020
275	Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: a cross-sectional study of patient experiences with physical activity. ⁶¹	Johansen H...Lidal I	32915071	2020
276	Myopic regression and recurrent Salzmann nodule degeneration after laser in situ keratomileusis in Ehlers Danlos Syndrome. ⁶¹	Hopping GC...Moshirfar M	32426553	2020
277	Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome. ⁶¹	Rolvien T...Oheim R	32671420	2020
278	Investigating uncommon vascular diseases using the Vascular Low Frequency Disease Consortium. ⁶¹	Lawrence PF...Woo K	31964572	2020
279	Leveraging Digital Technology for Treatment of Young Patients with Congenital Conditions: A Clinical Report. ⁶¹	Nguyen JP...Masri R	32827231	2020
280	Editorial Commentary: "Loose Lips Sink Ships"-But What About "Loose Hips"? ⁶¹	Hunt SA	32747062	2020
281	Unusual Combination of MEN-1 and the Contiguous Gene Deletion Syndrome of CAH and Ehlers-Danlos Syndrome (CAH-X). ⁶¹	Chen Cardenas SM...Hamrahian AH	32715272	2020
282	Direct Distal Renal Artery Aneurysm Repair. ⁶¹	Jayet J...Koskas F	32402807	2020
283	Diagnosis and management of pediatric metabolic bone diseases associated with skeletal fragility. ⁶¹	Charoenngam N...Holick MF	32692054	2020
284	Arthroscopic Ligamentum Teres Reconstruction: Minimum 2-Year Patient-Reported Outcomes With Subanalysis of Patients With Ehlers-Danlos Syndrome. ⁶¹	Rosinsky PJ...Domb BG	32360268	2020
285	Comment on "Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review". ⁶¹	Grahame R...Henderson F	32504190	2020
286	Ehlers-Danlos syndrome. ⁶¹	Atkinson G	32811922	2020
287	Response to "Quantitative measures of tissue mechanics to detect hypermobile Ehlers Danlos syndrome and hypermobility syndrome disorders: a systematic review". ⁶¹	Palmer S...Young G	32488770	2020
288	Classic Ehlers-Danlos syndrome and cardiac transplantation - Is there a connection? ⁶¹	Butler MG	32879701	2020
289	Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome. ⁶¹	Fernandez-Flores A...Barja-Lopez JM	32170975	2020
290	Systemic manifestations of Ehlers-Danlos syndrome. ⁶¹	Song B...Harrell J	33456144	2020
291	Topographic characterization and in vitro biofilm adhesion to titanium and polypropylene membranes used for alveolar preservation. ⁶¹	Resende M...Martinez EF	32831503	2020
292	Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis. ⁶¹	Guven S...Celbis O	32442117	2020
293	Ehlers-Danlos syndrome with huge bladder diverticulum in pregnancy - A rare and interesting case report. ⁶¹	Pradhan N...Sundaresh DC	32480169	2020
294	Arterial Switch Operation in a Patient With Ehlers-Danlos Syndrome Type IV. ⁶¹	Murthy R...Lamberti JJ	30296907	2020
295	Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives. ⁶¹	Ritelli M...Colombi M	32736638	2020
296	Ehlers-Danlos Syndrome: An Analysis of the Current Treatment Options. ⁶¹	Song B...Harrell J	32709178	2020
297	Ehlers-Danlos Syndrome and Hypermobility Syndrome Compared with Other Common Chronic Pain Diagnoses-A Study from the Swedish Quality Registry for Pain Rehabilitation. ⁶¹	Molander P...Gerdle B	32645981	2020
298	Vascular Ehlers-Danlos syndrome: can the beneficial effect of celiprolol be extrapolated to bisoprolol? ⁶¹	Gorosabel MC...Matyas G	31693161	2020
299	Trivial Trauma Causing Large Intramuscular Hematoma in a Child with Undiagnosed Vascular Ehlers-Danlos Syndrome. ⁶¹	Hongal P...Kalavant AB	32939126	2020
300	Bilateral carotid artery dissection due to Eagle syndrome in a patient with vascular Ehlers-Danlos syndrome: a case report. ⁶¹	Ikenouchi H...Koga M	32693780	2020
301	Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome. ⁶¹	Delbaere S...Malfait F	31862401	2020
302	Myofascial Flap Closure in Treatment for Patients With Craniocervical Instability and Ehlers-Danlos Syndrome. ⁶¹	Lu C...Otterburn DM	32187067	2020
303	Mechanisms of aortic carboxypeptidase-like protein secretion and identification of an intracellularly retained variant associated with Ehlers-Danlos syndrome. ⁶¹	Vishwanath N...Layne MD	32482891	2020
304	The Effects of Resistance Training on Health of Children and Adolescents With Disabilities. ⁶¹	Legerlotz K	33281519	2020
305	The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency. ⁶¹	Gao Y...Wu X	32291442	2020
306	Compressive Garments in Individuals with Autism and Severe Proprioceptive Dysfunction: A Retrospective Exploratory Case Series. ⁶¹	Guinchat V...Cohen D	32668622	2020
307	Pregnancy outcomes in women with Ehlers-Danlos Syndrome. ⁶¹	Spiegel E...Abenhaim HA	32654548	2020
308	Risperidone for the Management of Treatment-Resistant Anxiety in a Patient with Ehlers-Danlos Syndrome: A Case Report. ⁶¹	Niedt K...Sharoha N	32879817	2020
309	Anesthetic management of a patient with musculocontractural Ehlers-Danlos syndrome undergoing scoliosis surgery. ⁶¹	Wakabayashi R...Kawamata M	32529513	2020
310	The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS). ⁶¹	Kohn A...Chang C	31267471	2020
311	Gynecologic Management of Pediatric and Adolescent Patients with Ehlers-Danlos Syndrome. ⁶¹	Hernandez AMC...Dietrich JE	31883462	2020
312	The effect of five isometric exercises on glenohumeral translations in healthy subjects and patients with the hypermobility type of the ehlers-danlos syndrome (heds) or hypermobility spectrum disorder (hsd) with multidirectional shoulder instability: an observational study. ⁶¹	Spanhove V...Cools A	32026810	2020
313	A Novel COL3A1 c.2644G>T; p.(Gly882Cys) Variant in a Turkish Family with Vascular Ehlers-Danlos Syndrome. ⁶¹	Aydiner O...Hancer VS	32655343	2020
314	Vascular Ehlers-Danlos Syndrome: Literature review and surgical management of intracranial vascular complications. ⁶¹	Olubajo F...Choudhari KA	32197145	2020
315	Anterior Capsule Augmentation and Posterior Glenohumeral Capsular Reconstruction With Human Dermal Allograft for Multidirectional Shoulder Instability. ⁶¹	Gallagher F...Wong IH	32489841	2020
316	Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders. ⁶¹	Ritelli M...Colombi M	32414079	2020
317	Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. ⁶¹	Lautrup CK...Kosho T	32130795	2020
318	Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report. ⁶¹	Wan T...Huang X	32471395	2020
319	The most common comorbidities in patients with Ehlers-Danlos syndrome: a 15-year nationwide population-based cohort study. ⁶¹	Leganger J...Burcharth J	32412854	2020
320	[Pulmonary vascular Ehlers-Danlos syndrome: a clinicopathological analysis of three cases]. ⁶¹	Liu CP...Chen ZC	32392932	2020
321	Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. ⁶¹	Ayoub S...van Dijk FS	32091183	2020
322	A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder. ⁶¹	Celletti C...Strano S	32434316	2020
323	Posterior Shoulder Instability: Surgical Outcomes and Risk of Failure in Adolescence. ⁶¹	Asturias AM...Edmonds EW	32125876	2020
324	The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases. ⁶¹	Kumps C...Superti-Furga A	32295219	2020
325	DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability. ⁶¹	Schirwani S...Jewell R	31655143	2020
326	Prevalence and Predictors of Gastrointestinal Dysmotility in Patients with Hypermobile Ehlers-Danlos Syndrome: A Tertiary Care Center Experience. ⁶¹	Alomari M...Schneider A	32489735	2020
327	Zinc and Its Transporters in Epigenetics. ⁶¹	Brito S...Lee JS	32274919	2020
328	Survey of Ehlers-Danlos Patients' ophthalmic surgery experiences. ⁶¹	Louie A...Singman EL	31989797	2020
329	Relationship of rare disorder latent clusters to anxiety and depression symptoms. ⁶¹	Bogart KR...Dermody SS	31855040	2020
330	Mechanical allodynia in mice with tenascin-X deficiency associated with Ehlers-Danlos syndrome. ⁶¹	Okuda-Ashitaka E...Matsumoto KI	32300146	2020
331	Does muscle strength change over time in patients with hypermobile Ehlers-Danlos syndrome/ Hypermobility Spectrum Disorder? An 8-year follow-up study. ⁶¹	Coussens M...Rombaut L	32293111	2020
332	Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study. ⁶¹	Lisi C...Savasta S	28211643	2020
333	An old drug for a rare disease: The example of celiprolol for vascular Ehlers-Danlos syndrome. ⁶¹	Boutouyrie P	32127191	2020
334	A review of Ehlers-Danlos syndrome. ⁶¹	Miller E...Grosel JM	32175940	2020
335	Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report. ⁶¹	Liu YA...Lee AF	32338564	2020
336	Clinical variability in children with dolichoarteriopathies of the internal carotid artery. ⁶¹	Foiadelli T...Savasta S	31701280	2020
337	Class II malocclusion and ectopic canine treated with Pendulum appliance and TADs in a high-relapse potential Ehlers-Danlos patient: A case report. ⁶¹	Stappert D...Wiese L	32672664	2020
338	Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations. ⁶¹	Angwin C...van Dijk FS	31141158	2020
339	Family history of associated disorders in patients with postural tachycardia syndrome. ⁶¹	Boris JR...Bernadzikowski T	32008600	2020
340	Inherited cause of in utero digital malformations. ⁶¹	Gooch C...Robin N	32209574	2020
341	Subacromial space outlet in female patients with multidirectional instability based on hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder measured by ultrasound. ⁶¹	Kjar BH...Cools AM	31629650	2020
342	Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome. ⁶¹	Callaghan MB...Turnpenny PD	31833208	2020
343	Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review. ⁶¹	McGillis L...Clarke H	31840928	2020
344	Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review. ⁶¹	Palmer S...Young G	31955324	2020
345	Diagnosis of Ehlers-Danlos syndrome: data deficiency still does not allow establishment of a complete history of the disease and its pathomechanisms. ⁶¹	Hausser I	31432500	2020
346	Ruptured ulnar artery aneurysm in vascular Ehlers-Danlos syndrome. ⁶¹	Howard R...Osborne N	32072093	2020
347	COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. ⁶¹	Morlino S...Castori M	31794058	2020
348	Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). ⁶¹	Chen S...Lee B	32161841	2020
349	RD repair using 360-degree scleral graft for extensive scleral ectasia in a patient with Ehlers Danlos syndrome. ⁶¹	Whitlow S...Idrees Z	32083221	2020
350	Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing. ⁶¹	Shin YL...Jang MA	32174067	2020
351	Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome. ⁶¹	Miller AJ...Arnold AC	31954224	2020
352	Isolated Renal Artery Dissection: A Systematic Review of Case Reports. ⁶¹	Jha A...Garcia L	32076589	2020
353	Prenatal care and labor in patients with mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia). ⁶¹	Makatsariya A...Makatsariya N	29938556	2020
354	Problems in the orofacial region associated with Ehlers-Danlos and Marfan syndromes: a case series. ⁶¹	Van Camp N...Politis C	31859106	2020
355	A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1. ⁶¹	Duong J...Vandersteen A	31323331	2020
356	Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome. ⁶¹	Dubacher N...Matyas G	31056650	2020
357	Ehlers-Danlos syndrome presenting with primary nocturnal enuresis. ⁶¹	Cunha M...Marques I	32024714	2020
358	Podiatry alterations in Ehlers-Danlos syndrome. ⁶¹	Palomo-Toucedo IC...Reina-Bueno M	31255365	2020
359	Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology. ⁶¹	Ritelli M...Colombi M	31600821	2020
360	Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant. ⁶¹	Adham S...Legrand A	31531849	2020
361	Management of colonic complications of type IV Ehlers-Danlos syndrome: a systematic review and evidence-based management strategy. ⁶¹	Speake D...Carlson GL	31260161	2020
362	Custom-Made Foot Orthoses Reduce Pain and Fatigue in Patients with Ehlers-Danlos Syndrome. A Pilot Study. ⁶¹	Reina-Bueno M...Munuera-Martinez PV	32093191	2020
363	Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome. ⁶¹	Bowen CJ...Dietz HC	31639107	2020
364	The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. ⁶¹	Ishikawa Y...Bachinger HP	31949249	2020
365	Combined Nutcracker and Ehlers-Danlos Syndromes: A Case Report. ⁶¹	Amato ACM...Dos Santos RV	33078146	2020
366	Effect of shading and grafting on yield and quality of tomato. ⁶¹	Milenkovic L...Ilic ZS	31591726	2020
367	The Roles of Tenascins in Cardiovascular, Inflammatory, and Heritable Connective Tissue Diseases. ⁶¹	Matsumoto KI...Aoki H	33335533	2020
368	The Current Status of Genes and Genetic Testing in Emergency Medicine: A Narrative Review. ⁶¹	Aghamir SMK...Khatami F	31938779	2020
369	High Prevalence of Connective Tissue Gene Variants in Professional Ballet. ⁶¹	Vera AM...Harris JD	31765226	2020
370	A case of endovascular therapy for treating idiopathic arterial deteriorations of unknown etiology. ⁶¹	Matsuura S...Hoshina K	33039783	2020
371	Case - Penile fracture in a patient with Ehlers-Danlos syndrome. ⁶¹	Biebel M...Munarriz R	31670645	2020
372	Complications in Children with Ehlers-Danlos Syndrome Following Spine Surgery: Analysis of the Pediatric National Surgery Quality Improvement Program Database. ⁶¹	Matur AV...Cheng JS	31526884	2020
373	Assessment of the Information Sources and Interest in Research Collaboration Among Individuals with Vascular Ehlers-Danlos Syndrome. ⁶¹	Shalhub S...Vascular Ehlers-Danlos Syndrome Collaborative	31449940	2020
374	Structured Rehabilitation Program for Multidirectional Shoulder Instability in a Patient with Ehlers-Danlos Syndrome. ⁶¹	Kitagawa T...Nakaizumi D	32089933	2020
375	Rupture of a Median Sacral Artery Aneurysm in a Patient with Vascular Ehlers Danlos Syndrome. ⁶¹	Verhagen MJ...van Schaik J	33078159	2020
376	Effects of Rhythmic Sensory Stimulation on Ehlers-Danlos Syndrome: A Pilot Study. ⁶¹	Vuong V...Bartel L	32399126	2020
377	Local anaesthetic resistance in a patient with Ehlers-Danlos syndrome undergoing caesarean section with continuous spinal anaesthesia. ⁶¹	Wloch K...Gowrie-Mohan S	32537613	2020
378	Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix. ⁶¹	Delbaere S...Malfait F	31273343	2020
379	Appendiceal torsion in Ehlers-Danlos syndrome: A case report of a rare phenomenon in a rare disease. ⁶¹	Kim S...Duarte B	32721881	2020
380	A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome. ⁶¹	Oakley-Hannibal E...Brady AF	31609726	2020
381	Surgical treatment of abdominal wall weakness and lumbar hernias in Ehlers-Danlos syndrome - Case report. ⁶¹	Scheufler O...Andresen R	33010607	2020
382	Classic Ehlers-Danlos Syndrome: Clinical and Ultrasound Findings. ⁶¹	Herrero-Moyano M...Hernandez-Martin A	32169283	2020
383	The Many Facets of Hypermobile Ehlers-Danlos Syndrome. ⁶¹	Riley B	31904772	2020
384	Surgical Management of Colonic Perforation in a Patient with Vascular Ehlers-Danlos Syndrome with no Family History: A Case Report. ⁶¹	Kanaka S...Yoshida H	33134602	2020
385	Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of health burden perspectives. ⁶¹	Johansen H...Lidal I	31692252	2020
386	Agenesis of the corpus callosum: a rare association with Ehlers-Danlos syndrome. ⁶¹	Afrakhteh M...Haji Akhoundi F	33193788	2020
387	A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. ⁶¹	Shalhub S...Woo K	31353273	2020
388	An in vitro model to evaluate the properties of matrices produced by fibroblasts from osteogenesis imperfecta and Ehlers-Danlos Syndrome patients. ⁶¹	Micha D...Ghazanfari S	31668813	2020
389	Low function of natural killer cells in treated classic Menkes disease. ⁶¹	Bhat JN...Maertens P	32558428	2020
390	Obesity surgery and Ehlers-Danlos syndrome: challenges and considerations based on a case report. ⁶¹	Gerogiannis IN...Sgromo B	31530171	2020
391	MULTIMODAL IMAGING OF ANGIOID STREAKS ASSOCIATED WITH TURNER SYNDROME. ⁶¹	Chiu BQ...Smith RT	29443807	2020
392	Arterial Stiffening with Ultrafast Ultrasound Imaging Gives New Insight into Arterial Phenotype of Vascular Ehlers-Danlos Mouse Models. ⁶¹	Goudot G...Mirault T	30241104	2019
393	Bent Out of Shape: A Case of Abdominal Pain. ⁶¹	Chaganti P...Chao JH	30346365	2019
394	Physical exercise for people with hereditable thoracic aortic disease. A study of patient perspectives. ⁶¹	Velvin G...Lidal I	31847606	2019
395	Detection of target collagen peptides with single amino acid mutation using two fluorescent peptide probes. ⁶¹	Sun X...Xiao J	31566640	2019
396	Sudden death in acrogeria Gottron type. ⁶¹	Maiese A...Fineschi V	31673870	2019
397	Asymptomatic bilateral common iliac artery dissections in previously undiagnosed vascular Ehlers-Danlos syndrome. ⁶¹	Lavoie M...Reese J	31791984	2019
398	Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation. ⁶¹	Sakai K...Uematsu K	31391389	2019
399	Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome. ⁶¹	Kosho T...Yamada S	31905796	2019
400	Extradural Compressive Spinal Cerebrospinal Fluid Leak in Ehlers-Danlos Syndrome. ⁶¹	Pradini-Santos L...Sayal PP	31479794	2019
401	Stabilization of Recurrent Elbow Instability in a Patient with Ehlers-Danlos Syndrome: A Case Report. ⁶¹	Schneider AM...Salazar DH	31850912	2019
402	Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers-Danlos syndrome infant fragility theory should not rule. ⁶¹	Shur N...McIntosh B	31515912	2019
403	Oro-dental characteristics in patients with hypermobile Ehlers-Danlos Syndrome compared to a healthy control group. ⁶¹	Honore MB...Sonnesen L	31206735	2019
404	Hemothorax in vascular Ehlers-Danlos syndrome. ⁶¹	Alvarez K...Jose Angel H	29050841	2019
405	A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome. ⁶¹	Shalhub S...Woo K	31126764	2019
406	Subglottic tracheal stenosis associated with Ehlers-Danlos Syndrome, Hypermobilty Type. ⁶¹	Guiraudet P...Martinod E	31476586	2019
407	Penile fracture in a patient with Ehlers-Danlos syndrome: A case report. ⁶¹	Liu JL...Burnett AL	31641596	2019
408	Symptomatic Joint Hypermobility: The Hypermobile Type of Ehlers-Danlos Syndrome and the Hypermobility Spectrum Disorders. ⁶¹	Tinkle BT...Levy HP	31582002	2019
409	Vascular Ehlers-Danlos Syndrome Diagnosed in a Patient Initiating Hemodialysis. ⁶¹	Ouchi H...Nangaku M	31891008	2019
410	A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome. ⁶¹	Olson SL...Skeik N	31394236	2019
411	Vascular Ehlers-Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations. ⁶¹	Konieczynska M...Undas A	31575845	2019
412	Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study. ⁶¹	Aghajanyan A...Konjevoda P	30342098	2019
413	Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison. ⁶¹	Demmler JC...Brophy ST	31685485	2019
414	Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome. ⁶¹	Micale L...Castori M	31775249	2019
415	Recurrent swelling and pain in the abdomen and joints in a patient with hereditary angioedema and Ehlers-Danlos syndrome. ⁶¹	Dang MT...Arrey-Mensah A	31780602	2019
416	Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β. ⁶¹	Li J...Puel A	31784499	2019
417	Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia. ⁶¹	Barbitoff YA...Predeus AV	31482689	2019
418	Anterior Capsule Reconstruction of the Native Hip: A Technique Guide. ⁶¹	Kurz AZ...Ayeni OR	32042580	2019
419	Atypical Symptomatic Bilateral Spontaneous Cavernous Carotid Aneurysm with Systemic Vessel Wall Pathology in Young Female: A Rare Case Report. ⁶¹	Miyatani K...Kato Y	31903372	2019
420	[Therapy of Peripheral Artery Aneurysms]. ⁶¹	Jung G...Schmitz-Rixen T	31634974	2019
421	Nonatherosclerotic Abdominal Vasculopathies. ⁶¹	Skeik N...Sullivan T	31200053	2019
422	Prevalence of Functional GI Diseases and Pelvic Floor Symptoms in Marfan Syndrome and Ehlers-Danlos Syndrome: A National Cohort Study. ⁶¹	Nee J...Wolf J	30672816	2019
423	Carotid Artery Tortuosity Is Associated with Connective Tissue Diseases. ⁶¹	Welby JP...Brinjikji W	31558499	2019
424	A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. ⁶¹	Jaffey JA...Johnson GS	31294848	2019
425	Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X. ⁶¹	Kolli V...Merke DP	31666125	2019
426	Restoring extracellular matrix synthesis in senescent stem cells. ⁶¹	Rong N...Andreadis ST	31287964	2019
427	Median Arcuate Ligament Syndrome and Its Associated Conditions. ⁶¹	Huynh DTK...Shouhed D	31657316	2019
428	Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant. ⁶¹	Rymen D...Colombi M	31731524	2019
429	Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6. ⁶¹	Caraffi SG...Garavelli L	31614862	2019
430	Multiple Arterial Dissections in a Patient With Vascular Ehlers-Danlos Syndrome Caused by a Frameshift Mutation in COL3A1. ⁶¹	Yagyu T...Yasuda S	31080229	2019
431	Power-Injection Injury in a Patient with Ehlers-Danlos Syndrome. ⁶¹	Davis JR...Tomihama RT	31279686	2019
432	Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder. ⁶¹	Hakim AJ	31329982	2019
433	Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. ⁶¹	Bauer A...Leeb T	31365140	2019
434	Case Report: Drug-induced Leukocytoclastic Vasculitis in a Patient with Classic Ehlers-Danlos Syndrome. ⁶¹	Bourji K...Dogra B	31788374	2019
435	Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients. ⁶¹	Copetti M...Castori M	30783660	2019
436	The skin rejuvenation associated treatment-Fraxel laser, Microbotox, and low G prime hyaluronic acid: preliminary results. ⁶¹	Bertossi D...Nocini PF	30762198	2019
437	Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients. ⁶¹	Angwin C...van Dijk FS	31569816	2019
438	Flexible bodies-Restricted lives: A qualitative exploratory study of embodiment in living with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. ⁶¹	Saetre E...Eik H	31347287	2019
439	Recognizing and Effectively Managing Hypermobility-Related Conditions. ⁶¹	Russek LN...Simmonds J	31158283	2019
440	Use of Cluster Analysis to Delineate Symptom Profiles in an Ehlers-Danlos Syndrome Patient Population. ⁶¹	Schubart JR...Bascom R	31153935	2019
441	Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility. ⁶¹	Ghali N...van Dijk FS	30837697	2019
442	Ehlers-Danlos syndrome and other heritable connective tissue disorders that impact pregnancies can be detected using next-generation DNA sequencing. ⁶¹	VanderJagt K...Butler MG	31250196	2019
443	Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome. ⁶¹	Bauer A...Bateman FL	31546637	2019
444	A case of Ehlers-Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report. ⁶¹	Xu X...Zan T	31517854	2019
445	Molecular underpinnings of integrin binding to collagen-mimetic peptides containing vascular Ehlers-Danlos syndrome-associated substitutions. ⁶¹	Hoop CL...Baum J	31406019	2019
446	[Ocular manifestations in Ehlers-Danlos Syndromes: Clinical study of 21 patients]. ⁶¹	Perez-Roustit S...Bremond-Gignac D	31133401	2019
447	Utilization of echocardiography in Ehlers-Danlos syndrome. ⁶¹	Rauser-Foltz KK...Yetman AT	31328377	2019
448	Confirmation That Angioid Streaks Are Not Common in Ehlers-Danlos Syndrome. ⁶¹	Mahroo OA...Hykin PG	31556922	2019
449	Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications. ⁶¹	Ewans LJ...Roscioli T	31129566	2019
450	High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. ⁶¹	Lao Q...Merke DP	31229653	2019
451	A three-dimensional analysis of scoliosis progression in non-idiopathic scoliosis: is it similar to adolescent idiopathic scoliosis? ⁶¹	Bachmann KR...Harms Study Group Investigators	31183529	2019
452	Safety of Endoscopy in Heritable Connective Tissue Disorders. ⁶¹	Kilaru SM...Wolf JL	31185005	2019
453	Genetic basis of hereditary thoracic aortic aneurysms and dissections. ⁶¹	Takeda N...Komuro I	31000321	2019
454	Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. ⁶¹	Ritelli M...Colombi M	31438591	2019
455	Leukocytoclastic vasculitis with Koebner phenomenon associated with Ehlers Danlos syndrome. ⁶¹	Haddock EES...Marsch AF	31388534	2019
456	Fragility of Life: Recurrent Intestinal Perforation Due to Vascular Ehlers-Danlos Syndrome. ⁶¹	Sceats LA...Kin C	30656563	2019
457	Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency. ⁶¹	Sandler-Wilson C...Shinawi M	30914273	2019
458	Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. ⁶¹	Kuivaniemi H...Tromp G	31075413	2019
459	Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers-Danlos syndrome and hypermobility spectrum disorders: a retrospective study. ⁶¹	Wasim S...So J	30923956	2019
460	Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. ⁶¹	Legrand A...Jeunemaitre X	30474650	2019
461	Underlying Ehlers-Danlos syndrome discovered during neuro-ophthalmic evaluation of concussion patients: a case series. ⁶¹	Gami A...Singman EL	31345188	2019
462	An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome. ⁶¹	Martin A	31102747	2019
463	Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: A Retrospective Review. ⁶¹	Adham S...Frank M	31188187	2019
464	Pain in hypermobile Ehlers-Danlos syndrome: New insights using new criteria. ⁶¹	Benistan K...Martinez V	31075184	2019
465	Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome. ⁶¹	Lim PJ...Giunta C	31288483	2019
466	Bilateral Medial and Lateral Patellofemoral Ligament Reconstruction in a Patient with Hypermobility Type Ehlers-Danlos Syndrome: A Case Report. ⁶¹	Shubert DJ...McDonough EB	31390333	2019
467	An update on the new classification of Ehlers-Danlos syndrome and review of the causes of bleeding in this population. ⁶¹	Jesudas R...Laukaitis CM	31329366	2019
468	Intestinal Perforation in Children as an Important Differential Diagnosis of Vascular Ehlers-Danlos Syndrome. ⁶¹	Park KY...Kohler JE	31324749	2019
469	[Syndromes with skin fragility]. ⁶¹	Reimer A...Has C	31197392	2019
470	Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1. ⁶¹	Lin Z...Wang X	31239369	2019
471	Genomic analysis of claw lesions in Holstein cows: Opportunities for genomic selection, quantitative trait locus detection, and gene identification. ⁶¹	Croue I...Ducrocq V	31056323	2019
472	You're the Flight Surgeon. ⁶¹		31101147	2019
473	Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. ⁶¹	Pinna R...Cagetti MG	31090139	2019
474	A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly. ⁶¹	Budsamongkol T...Shotelersuk V	31193991	2019
475	Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington. ⁶¹	Gay EA...Hisama FM	30327540	2019
476	Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses. ⁶¹	Velvin G...Geirdal AO	30788842	2019
477	The Genetics of Pneumothorax. ⁶¹	Boone PM...Raby BA	30681372	2019
478	FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report. ⁶¹	Ruiz-Botero F...Pachajoa H	31063316	2019
479	Pseudo-obstruction, enteric dysmotility and irritable bowel syndrome. ⁶¹	Lindberg G	31594655	2019
480	Clinical Case of Acute Non-Traumatic Hand Compartment Syndrome and Systematic Review for the Upper Extremity. ⁶¹	Ogrodnik J...Forte AJ	31215795	2019
481	Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome. ⁶¹	Syx D...Malfait F	30668708	2019
482	Prolapse and regurgitation of the four heart valves in a patient with Ehlers-Danlos Syndrome: a case report. ⁶¹	Chango Azanza DX...Spernanzoni F	31449614	2019
483	Classic Ehlers-Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father. ⁶¹	Sen P...Butler MG	31061749	2019
484	Re: Hevesi M, Chaudhry AR, Wagner ER, Moran SL. Thumb carpometacarpal arthritis in patients with Ehlers-Danlos Syndrome: non-operative and operative experiences. J Hand Surg Eur. 2019, 44: 587-94. ⁶¹	Taylor L...Southern S	30913950	2019
485	Re: re: Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome. ⁶¹	Campbell SJ...Heliotis M	30967294	2019
486	Re: Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome. ⁶¹	Sembronio S...Robiony M	30992226	2019
487	Multidirectional Shoulder Instability With Bone Loss and Prior Failed Latarjet Procedure: Treatment With Fresh Distal Tibial Allograft and Modified T-Plasty Open Capsular Shift. ⁶¹	Peebles LA...Provencher MT	31194075	2019
488	Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review. ⁶¹	Baeza-Velasco C...Jaussaud R	29357706	2019
489	FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome ⁶¹	Giunta C...Baumann M	31132235	2019
490	Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. ⁶¹	Shalhub S...Milewicz DM	30793832	2019
491	Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing. ⁶¹	Cortini F...Bassotti A	30826961	2019
492	The erector spinae plane block in a high-risk Ehlers-Danlos syndrome pediatric patient for vascular ring repair. ⁶¹	Wyatt K...Elattary T	30391449	2019
493	Percutaneous Embolization of an Inferior Mesenteric Artery Aneurysm in a Patient With Type IV Ehlers-Danlos Syndrome. ⁶¹	Rahman Q...Stone WM	30630391	2019
494	Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study. ⁶¹	Rolfes MC...Derauf C	30856599	2019
495	Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review. ⁶¹	Frank M...Jeunemaitre X	30357907	2019
496	Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen. ⁶¹	Lu Y...Han J	31218159	2019
497	Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2. ⁶¹	Guarnieri V...Castori M	30821104	2019
498	TNX deficiency results in bone loss due to an increase in multinucleated osteoclasts. ⁶¹	Kajitani N...Matsumoto KI	30922562	2019
499	A Dual Approach for the Management of Complex Craniovertebral Junction Abnormalities: Endoscopic Endonasal Odontoidectomy and Posterior Decompression with Fusion. ⁶¹	Alalade AF...Greenfield JP	31218285	2019
500	[Up-to-date classification and multidisciplinary symptoms of Ehlers-Danlos syndromes]. ⁶¹	Ralovich FV...Medvecz M	30983397	2019
501	Morphometric analysis of thoracic aorta in Slc39a13/Zip13-KO mice. ⁶¹	Hirose T...Takehana K	30610452	2019
502	Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study. ⁶¹	Frank M...Jeunemaitre X	30999998	2019
503	Exercise and sports participation in patients with thoracic aortic disease: a review. ⁶¹	Thijssen CGE...Roos-Hesselink JW	30887852	2019
504	Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization. ⁶¹	Bascom R...McDonnell N	30706611	2019
505	Cervical artery dissection: fibromuscular dysplasia versus vascular Ehlers-Danlos syndrome. ⁶¹	Henrard C...Persu A	30623691	2019
506	Unusual Complicated Fungal Endocarditis in a Patient With Vascular Ehlers-Danlos Syndrome. ⁶¹	Khalique Z...Mohiaddin R	30359590	2019
507	Gleno-humeral abduction measurement in patients with Ehlers-Danlos syndrome. ⁶¹	Cypel D	30885819	2019
508	Treatment of the wide open wound in the Ehlers-Danlos syndrome. ⁶¹	Baik BS...Ji SY	31048651	2019
509	Absence of lingual frenulum in children with Ehlers-Danlos Syndrome: a retrospective study of forty cases and literature review of a twenty years long debate. ⁶¹	Savasta S...Marseglia GL	30961343	2019
510

Ehlers-Danlos Syndrome (EDS)

Aliases & Classifications for Ehlers-Danlos Syndrome

MalaCards integrated aliases for Ehlers-Danlos Syndrome:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Ehlers-Danlos Syndrome

Related Diseases for Ehlers-Danlos Syndrome

Diseases in the Ehlers-Danlos Syndrome family:

Diseases related to Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome:

Symptoms & Phenotypes for Ehlers-Danlos Syndrome

UMLS symptoms related to Ehlers-Danlos Syndrome:

MGI Mouse Phenotypes related to Ehlers-Danlos Syndrome:

Drugs & Therapeutics for Ehlers-Danlos Syndrome

Drugs for Ehlers-Danlos Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: ehlers-danlos syndrome

Genetic Tests for Ehlers-Danlos Syndrome

Genetic tests related to Ehlers-Danlos Syndrome:

Anatomical Context for Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome: