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

EDS MCID: EHL001 MIFTS: 58	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 ⁷⁴ ²⁵ ⁵⁸ ³⁶ ²⁹ ⁵⁴ ⁶ ⁴² ⁴³ ¹⁵ ⁷¹ ³²

Elastic Skin ¹² ⁵⁴

Eds ⁵² ²⁵

Ehlers-Danlos Syndromes ⁵²

Syndrome, Ehlers-Danlos ³⁹

Ehlers Danlos Syndrome ⁵²

Ehlers Danlos Disease ²⁵

Cutis Hyperelastica ¹²

Ed Syndrome ⁵²

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 ⁴³ D004535

NCIt ⁴⁹ C34568

SNOMED-CT ⁶⁷ 398114001

ICD10 ³² Q79.6

MESH via Orphanet ⁴⁴ D004535

ICD10 via Orphanet ³³ Q79.6

UMLS via Orphanet ⁷² C0013720

Orphanet ⁵⁸ ORPHA98249

UMLS ⁷¹ C0013720

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Summaries for Ehlers-Danlos Syndrome

Genetics Home Reference : ²⁵ 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 discovered 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. Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser extent the kyphoscoliotic, classical, and classical-like types, can cause unpredictable tearing (rupture) of blood vessels, leading to internal bleeding and other potentially life-threatening complications. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus during pregnancy. 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 elastic skin, is related to ehlers-danlos syndrome, hypermobility 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 Adrenergic beta-Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related phenotypes are cardiovascular system and growth/size/body region

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.

NIH Rare Diseases : ⁵² 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 : ⁷⁴ Ehlers-Danlos syndromes (EDS) are a group of rare genetic connective tissue disorders. Symptoms may... more...

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Related Diseases for Ehlers-Danlos Syndrome

Diseases in the Ehlers-Danlos Syndrome family:

Type I Ehlers-Danlos Syndrome

Autosomal Recessive Type Iv Ehlers-Danlos Syndrome

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

(showing 1057, show less)

#	Related Disease	Score	Top Affiliating Genes
1	ehlers-danlos syndrome, hypermobility type	35.6	TNXB SLC39A13
2	ehlers-danlos syndrome, classic type, 2	35.5	COL5A2 COL5A1 COL3A1
3	periodontal ehlers-danlos syndrome	35.4	C1S C1R
4	kyphoscoliotic ehlers-danlos syndrome	35.4	PLOD1 FKBP14
5	ehlers-danlos syndrome, classic-like	35.4	TNXB LOC106780803 AEBP1
6	ehlers-danlos syndrome, arthrochalasia type, 2	35.4	COL1A2 COL1A1
7	arthrochalasia ehlers-danlos syndrome	35.4	COL1A2 COL1A1
8	musculocontractural ehlers-danlos syndrome	35.4	DSE CHST14
9	ehlers-danlos syndrome, periodontal type, 1	35.4	C1S C1R
10	ehlers-danlos syndrome progeroid type	35.3	B4GALT7 B3GALT6
11	ehlers-danlos syndrome, classic type, 1	35.2	COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
12	ehlers-danlos syndrome, periodontal type, 2	35.2	C1S C1R
13	classic ehlers-danlos syndrome	35.1	TNXB COL5A2 COL5A1 COL1A2 COL1A1
14	hypermobile ehlers-danlos syndrome	35.1	TNXB PLOD1 FKBP14 COL1A1
15	type i ehlers-danlos syndrome	34.6	DSE COL1A2 COL1A1 CHST14
16	brittle cornea syndrome 2	33.8	TNXB SLC39A13 PLOD1 FKBP14 COL5A2 COL5A1
17	aortic aneurysm, familial thoracic 1	33.7	COL5A2 COL5A1 COL3A1
18	loeys-dietz syndrome	33.4	COL5A2 COL5A1 COL3A1
19	orthostatic intolerance	32.7	TNXB PLOD1 FLNA COL5A2 COL5A1 COL3A1
20	connective tissue disease	32.6	TNXB PLOD1 FLNA COL5A2 COL5A1 COL3A1
21	hypermobility syndrome	32.1	TNXB COL5A2 COL5A1 COL3A1 C1R
22	ehlers-danlos/osteogenesis imperfecta syndrome	31.8	COL1A2 COL1A1
23	brittle bone disorder	31.7	PLOD1 COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
24	pelvic organ prolapse	31.5	TNXB COL3A1 COL1A2 COL1A1
25	marfan syndrome	31.4	FLNA COL5A2 COL5A1 COL3A1 COL1A2 COL1A1
26	scoliosis	31.4	PLOD1 FLNA FKBP14 COL5A1 COL1A2 COL1A1
27	congenital contractures	31.4	PLOD1 CHST14
28	col1a1/2 osteogenesis imperfecta	31.0	COL1A2 COL1A1
29	quadricuspid aortic valve	30.9	TNXB LOC106780803
30	aortic valve disease 1	30.9	FLNA COL5A2 COL5A1 COL3A1
31	gingival recession	30.8	C1S C1R
32	osteogenesis imperfecta, type iii	30.8	COL5A2 COL1A2 COL1A1
33	hypomelanosis of ito	30.8	PLOD1 COL5A1
34	osteogenesis imperfecta, type ii	30.8	COL5A2 COL5A1 COL1A2 COL1A1
35	bethlem myopathy 1	30.1	PLOD1 FKBP14 COL3A1
36	c1 inhibitor deficiency	30.0	C1S C1R
37	collagen disease	29.8	TNXB SLC39A13 PLOD1 FKBP14 COL5A2 COL5A1
38	ehlers-danlos syndrome, vascular type	13.3
39	ehlers-danlos syndrome, kyphoscoliotic type, 1	13.2
40	ehlers-danlos syndrome, spondylodysplastic type, 3	13.2
41	ehlers-danlos syndrome, cardiac valvular type	13.2
42	ehlers-danlos syndrome, dermatosparaxis type	13.1
43	ehlers-danlos syndrome, kyphoscoliotic type, 2	13.1
44	ehlers-danlos syndrome, spondylodysplastic type, 1	13.1
45	ehlers-danlos syndrome, spondylodysplastic type, 2	13.0
46	ehlers-danlos syndrome, arthrochalasia type, 1	13.0
47	ehlers-danlos syndrome, musculocontractural type, 1	13.0
48	ehlers-danlos syndrome, musculocontractural type, 2	13.0
49	ehlers-danlos syndrome, classic-like, 2	13.0
50	polymicrogyria with or without vascular-type ehlers-danlos syndrome	12.9
51	x-linked ehlers-danlos syndrome	12.8
52	ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality	12.8
53	b4galt7-related spondylodysplastic ehlers-danlos syndrome	12.7
54	plod1-related kyphoscoliotic ehlers-danlos syndrome	12.7
55	ehlers-danlos syndrome, autosomal dominant, type unspecified	12.6
56	ehlers-danlos syndrome, beasley-cohen type	12.6
57	fkbp14 kyphoscoliotic ehlers-danlos syndrome	12.6
58	occipital horn syndrome	12.5
59	autosomal recessive type iv ehlers-danlos syndrome	12.5
60	brittle cornea syndrome 1	12.5
61	bethlem myopathy 2	12.5
62	cardiac valvular dysplasia, x-linked	12.4
63	cutis laxa, autosomal dominant 1	11.9
64	joint laxity, familial	11.8
65	postural orthostatic tachycardia syndrome	11.8
66	dysautonomia	11.8
67	periventricular nodular heterotopia	11.8
68	pneumothorax, primary spontaneous	11.8
69	autonomic dysfunction	11.8
70	flna-related periventricular nodular heterotopia	11.8
71	cutis laxa, autosomal recessive, type ia	11.8
72	familial thoracic aortic aneurysm and aortic dissection	11.8
73	mounier-kuhn syndrome	11.8
74	idiopathic hypersomnia	11.5
75	loeys-dietz syndrome 2	11.5
76	cutis laxa, autosomal recessive, type ic	11.5
77	autosomal recessive cutis laxa type i	11.5
78	autonomic nervous system disease	11.5
79	auditory neuropathy spectrum disorder	11.5
80	hereditary alpha tryptasemia syndrome	11.5
81	narcolepsy	11.4
82	ectodermal dysplasia and immunodeficiency 1	11.0
83	aneurysm	11.0
84	chronic pain	10.9
85	hypotonia	10.9
86	pneumothorax	10.8
87	aortic aneurysm	10.8
88	periodontitis	10.8
89	aortic dissection	10.7
90	clubfoot	10.7
91	cutis laxa	10.7
92	fibromyalgia	10.7
93	varicose veins	10.7
94	myopathy	10.7
95	neuropathy	10.7
96	aortic aneurysm, familial abdominal, 1	10.6
97	constipation	10.6
98	joint laxity, short stature, and myopia	10.6
99	inguinal hernia	10.6
100	myopia	10.6
101	intestinal perforation	10.6
102	autosomal recessive disease	10.6
103	vascular disease	10.6
104	high bone mass osteogenesis imperfecta	10.6	COL1A2 COL1A1
105	tibialis tendinitis	10.6	TNXB COL5A2
106	lipoblastoma	10.6	COL3A1 COL1A2
107	polyneuropathy	10.6
108	keratoconus	10.5
109	cerebrovascular disease	10.5
110	peritonitis	10.5
111	irritable bowel syndrome	10.5
112	scleroderma, familial progressive	10.5	COL1A2 COL1A1
113	vesicoureteral reflux 8	10.5	TNXB LOC106780803
114	hypertelorism	10.5
115	retinal detachment	10.5
116	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.5
117	umbilical hernia	10.5
118	heart septal defect	10.5
119	compartment syndrome	10.5
120	headache	10.5
121	immunodeficiency due to a classical component pathway complement deficiency	10.5	C1S C1R
122	plantar fascial fibromatosis	10.5	COL3A1 COL1A1
123	syndromic x-linked intellectual disability cabezas type	10.5	COL1A2 COL1A1
124	lipoid congenital adrenal hyperplasia	10.5
125	adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	10.5
126	mitral valve insufficiency	10.5
127	vasculitis	10.5
128	neurofibromatosis	10.5
129	back pain	10.5
130	overgrowth syndrome	10.5
131	osteogenesis imperfecta, type v	10.5	COL1A2 COL1A1
132	osteogenesis imperfecta, type vi	10.5	COL1A2 COL1A1
133	aortic aneurysm, familial thoracic 2	10.5	FLNA COL3A1
134	diffuse scleroderma	10.5	COL1A2 COL1A1
135	larsen-like syndrome	10.5	COL5A2 COL3A1 COL1A2 COL1A1
136	pectus excavatum	10.4
137	epilepsy	10.4
138	atrial heart septal defect	10.4
139	aortic valve insufficiency	10.4
140	peripheral nervous system disease	10.4
141	lung disease	10.4
142	chronic fatigue syndrome	10.4
143	polymicrogyria	10.4
144	cerebral aneurysms	10.4
145	congenital intrinsic factor deficiency	10.4	C1S C1R
146	narcissistic personality disorder	10.4	FLNA ADAMTS2
147	lateral sclerosis	10.4
148	acroosteolysis	10.4
149	bladder diverticulum	10.4
150	cleft palate, isolated	10.4
151	coronary artery dissection, spontaneous	10.4
152	marfanoid hypermobility syndrome	10.4
153	migraine with or without aura 1	10.4
154	osteoporosis	10.4
155	teeth, supernumerary	10.4
156	arterial tortuosity syndrome	10.4
157	periventricular nodular heterotopia 1	10.4
158	ataxia and polyneuropathy, adult-onset	10.4
159	angioid streaks	10.4
160	bone mineral density quantitative trait locus 8	10.4
161	bone mineral density quantitative trait locus 15	10.4
162	alacrima, achalasia, and mental retardation syndrome	10.4
163	ptosis	10.4
164	von willebrand's disease	10.4
165	splenic artery aneurysm	10.4
166	ventricular septal defect	10.4
167	gastritis	10.4
168	pancreatitis	10.4
169	diverticulitis	10.4
170	osteoarthritis	10.4
171	carotid artery dissection	10.4
172	refractive error	10.4
173	muscular dystrophy	10.4
174	chiari malformation	10.4
175	dysphagia	10.4
176	temporomandibular joint anomaly	10.4
177	caspase 8 deficiency	10.4	FKBP14 COL5A2 COL5A1 B3GALT6
178	bruck syndrome	10.3	PLOD3 PLOD1 COL1A2 COL1A1
179	stickler syndrome	10.3	PLOD3 COL5A2 COL1A2 COL1A1
180	atrial standstill 1	10.3
181	gastroesophageal reflux	10.3
182	clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	10.3
183	elastosis perforans serpiginosa	10.3
184	fibromuscular dysplasia	10.3
185	attention deficit-hyperactivity disorder	10.3
186	strabismus	10.3
187	down syndrome	10.3
188	autism	10.3
189	cryptorchidism, unilateral or bilateral	10.3
190	ullrich congenital muscular dystrophy 1	10.3
191	menkes disease	10.3
192	kearns-sayre syndrome	10.3
193	patent ductus arteriosus 1	10.3
194	anxiety	10.3
195	myocardial infarction	10.3
196	intraocular pressure quantitative trait locus	10.3
197	helix syndrome	10.3
198	alkuraya-kucinskas syndrome	10.3
199	pain agnosia	10.3
200	cardiac arrest	10.3
201	endocarditis	10.3
202	megacolon	10.3
203	cardiac tamponade	10.3
204	hereditary hemorrhagic telangiectasia	10.3
205	telangiectasis	10.3
206	diarrhea	10.3
207	personality disorder	10.3
208	hemangioma	10.3
209	hemopneumothorax	10.3
210	endometriosis	10.3
211	acute pancreatitis	10.3
212	ischemia	10.3
213	mood disorder	10.3
214	subclavian artery aneurysm	10.3
215	congestive heart failure	10.3
216	muscular atrophy	10.3
217	placenta disease	10.3
218	mechanical strabismus	10.3
219	exophthalmos	10.3
220	intracranial hypertension	10.3
221	pure autonomic failure	10.3
222	seizure disorder	10.3
223	congenital amyoplasia	10.3
224	toxic shock syndrome	10.3
225	complement component 3 deficiency	10.3	C1S C1R
226	ocular motor apraxia	10.3
227	boomerang dysplasia	10.3	FLNA B4GALT7
228	substance abuse	10.3
229	complement component 5 deficiency	10.3	C1S C1R
230	acute cystitis	10.3
231	sickle cell disease	10.3
232	amyotrophic lateral sclerosis 1	10.3
233	lung cancer	10.2
234	neurofibromatosis, type ii	10.2
235	chiari malformation type i	10.2
236	multiple sclerosis	10.2
237	erythermalgia, primary	10.2
238	hernia, hiatus	10.2
239	melkersson-rosenthal syndrome	10.2
240	dowling-degos disease 1	10.2
241	thrombophilia due to thrombin defect	10.2
242	volvulus of midgut	10.2
243	celiac disease 1	10.2
244	3-methylglutaconic aciduria, type iii	10.2
245	pseudoxanthoma elasticum	10.2
246	stroke, ischemic	10.2
247	branchiootic syndrome 1	10.2
248	astigmatism	10.2
249	ventricular fibrillation, paroxysmal familial, 1	10.2
250	anorexia nervosa	10.2
251	bone mineral density quantitative trait locus 3	10.2
252	spondyloepimetaphyseal dysplasia, matrilin-3 related	10.2
253	preterm premature rupture of the membranes	10.2
254	muscular dystrophy, congenital, lmna-related	10.2
255	leptin deficiency or dysfunction	10.2
256	tooth agenesis	10.2
257	distal arthrogryposis	10.2
258	sleep apnea	10.2
259	autism spectrum disorder	10.2
260	aphasia	10.2
261	bone disease	10.2
262	intestinal pseudo-obstruction	10.2
263	superior semicircular canal dehiscence	10.2
264	isolated ectopia lentis	10.2
265	dry eye syndrome	10.2
266	dermatomyositis	10.2
267	microcephaly	10.2
268	obsessive-compulsive personality disorder	10.2
269	arteriovenous malformation	10.2
270	pyelonephritis	10.2
271	scleral staphyloma	10.2
272	esophagitis	10.2
273	allergic hypersensitivity disease	10.2
274	otosclerosis	10.2
275	quadriplegia	10.2
276	frozen shoulder	10.2
277	renal tubular acidosis	10.2
278	pulmonary valve insufficiency	10.2
279	avoidant personality disorder	10.2
280	keratosis	10.2
281	cerebral palsy	10.2
282	factor xiii deficiency	10.2
283	focal epilepsy	10.2
284	bursitis	10.2
285	gingival overgrowth	10.2
286	complex regional pain syndrome	10.2
287	purpura	10.2
288	plexopathy	10.2
289	skin disease	10.2
290	heart valve disease	10.2
291	tricuspid valve insufficiency	10.2
292	dentinogenesis imperfecta	10.2
293	neuromuscular disease	10.2
294	ovarian cyst	10.2
295	sleep disorder	10.2
296	paraplegia	10.2
297	dentin dysplasia	10.2
298	myocarditis	10.2
299	cataract	10.2
300	cleft lip	10.2
301	cervical incompetence	10.2
302	alopecia	10.2
303	developmental coordination disorder	10.2
304	47,xyy	10.2
305	x-linked otopalatodigital spectrum disorders	10.2
306	48,xyyy	10.2
307	mast cell activation syndrome	10.2
308	weber syndrome	10.2
309	raynaud phenomenon	10.2
310	developmental dyspraxia	10.2
311	head injury	10.2
312	cleft lip/palate	10.2
313	progeroid syndrome	10.2
314	nodular neuronal heterotopia	10.2
315	subacute delirium	10.2
316	acute myocardial infarction	10.2
317	desbuquois dysplasia	10.2	B4GALT7 B3GALT6
318	pneumonia	10.2
319	x-linked alport syndrome	10.2	COL1A2 COL1A1
320	multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	10.2
321	influenza	10.2
322	intermediate coronary syndrome	10.2
323	transient cerebral ischemia	10.2
324	disease of mental health	10.1
325	severe acute respiratory syndrome	10.1
326	prostatic hyperplasia, benign	10.1
327	bulimia nervosa	10.1
328	microcephaly, epilepsy, and diabetes syndrome	10.1
329	bacterial infectious disease	10.1
330	prostatic hypertrophy	10.1
331	pulmonary edema	10.1
332	dementia	10.1
333	prostatic adenoma	10.1
334	spondyloarthropathy 1	10.1
335	arteries, anomalies of	10.1
336	epidermolytic hyperkeratosis	10.1
337	progressive familial heart block, type ia	10.1
338	caffey disease	10.1
339	cardiac conduction defect	10.1
340	carpal tunnel syndrome	10.1
341	cleidocranial dysplasia	10.1
342	dentatorubral-pallidoluysian atrophy	10.1
343	lateral meningocele syndrome	10.1
344	factor viii deficiency	10.1
345	gilles de la tourette syndrome	10.1
346	hair whorl	10.1
347	hand skill, relative	10.1
348	diaphragmatic hernia, congenital	10.1
349	hirschsprung disease 1	10.1
350	beukes hip dysplasia	10.1
351	palmoplantar keratoderma, epidermolytic	10.1
352	ige responsiveness, atopic	10.1
353	klippel-trenaunay-weber syndrome	10.1
354	leiomyoma, uterine	10.1
355	lipomatosis, multiple	10.1
356	systemic lupus erythematosus	10.1
357	mesothelioma, malignant	10.1
358	nail-patella syndrome	10.1
359	amyotrophy, hereditary neuralgic	10.1
360	neuropathy, hereditary, with liability to pressure palsies	10.1
361	enchondromatosis, multiple, ollier type	10.1
362	multicentric carpotarsal osteolysis syndrome	10.1
363	otitis media	10.1
364	pancreas, annular	10.1
365	prader-willi syndrome	10.1
366	hutchinson-gilford progeria syndrome	10.1
367	proteus syndrome	10.1
368	pulmonary hypertension, primary, 1	10.1
369	spondylolisthesis	10.1
370	telangiectasia, hereditary hemorrhagic, type 1	10.1
371	telecanthus	10.1
372	testicular torsion	10.1
373	tetralogy of fallot	10.1
374	tuberous sclerosis 1	10.1
375	von willebrand disease, type 1	10.1
376	chiari malformation type ii	10.1
377	ascites, chylous	10.1
378	cutis laxa, autosomal recessive, type iia	10.1
379	cystic fibrosis	10.1
380	dandy-walker syndrome	10.1
381	duodenal atresia	10.1
382	geroderma osteodysplasticum	10.1
383	pulmonary venoocclusive disease 2, autosomal recessive	10.1
384	mowat-wilson syndrome	10.1
385	marden-walker syndrome	10.1
386	familial mediterranean fever	10.1
387	myasthenia gravis	10.1
388	osteoporosis, juvenile	10.1
389	pancreatic cancer	10.1
390	periodontitis, chronic	10.1
391	phenylketonuria	10.1
392	spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	10.1
393	sudden infant death syndrome	10.1
394	tracheobronchomegaly	10.1
395	xanthinuria, type i	10.1
396	anemia, x-linked, with or without neutropenia and/or platelet abnormalities	10.1
397	hemophilia a	10.1
398	hemophilia b	10.1
399	simpson-golabi-behmel syndrome, type 1	10.1
400	tooth size	10.1
401	dermatitis herpetiformis, familial	10.1
402	yemenite deaf-blind hypopigmentation syndrome	10.1
403	macular degeneration, age-related, 1	10.1
404	polydactyly	10.1
405	progressive familial heart block, type ib	10.1
406	body mass index quantitative trait locus 1	10.1
407	pulmonary disease, chronic obstructive	10.1
408	major depressive disorder	10.1
409	loeys-dietz syndrome 1	10.1
410	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	10.1
411	major affective disorder 8	10.1
412	major affective disorder 9	10.1
413	factor xi deficiency	10.1
414	leukemia, acute lymphoblastic	10.1
415	alpha-1-antitrypsin deficiency	10.1
416	barrett esophagus	10.1
417	leukemia, acute lymphoblastic 3	10.1
418	cutis laxa, autosomal dominant 3	10.1
419	chorea, childhood-onset, with psychomotor retardation	10.1
420	hyperlipoproteinemia, type iii	10.1
421	gastrointestinal ulceration, recurrent, with dysfunctional platelets	10.1
422	lipoprotein quantitative trait locus	10.1
423	peripheral vascular disease	10.1
424	deficiency anemia	10.1
425	tendinitis	10.1
426	angiosarcoma	10.1
427	brugada syndrome	10.1
428	exanthem	10.1
429	rheumatic heart disease	10.1
430	limb ischemia	10.1
431	spastic ataxia	10.1
432	infective endocarditis	10.1
433	sexual disorder	10.1
434	colitis	10.1
435	atrial fibrillation	10.1
436	xanthinuria	10.1
437	sclerocornea	10.1
438	cornea plana	10.1
439	tracheomalacia	10.1
440	anal fistula	10.1
441	ectopic pregnancy	10.1
442	hyperekplexia	10.1
443	dextro-looped transposition of the great arteries	10.1
444	thrombosis	10.1
445	autosomal recessive cutis laxa type iii	10.1
446	hereditary lymphedema i	10.1
447	muscular disease	10.1
448	fibrous dysplasia	10.1
449	migraine with aura	10.1
450	corneal disease	10.1
451	venous insufficiency	10.1
452	xerophthalmia	10.1
453	pleomorphic lipoma	10.1
454	brown's tendon sheath syndrome	10.1
455	thalassemia	10.1
456	pleurisy	10.1
457	blepharophimosis	10.1
458	amyotrophic neuralgia	10.1
459	esophageal atresia	10.1
460	leukodystrophy	10.1
461	charcot-marie-tooth disease	10.1
462	short bowel syndrome	10.1
463	interstitial nephritis	10.1
464	open-angle glaucoma	10.1
465	meningocele	10.1
466	hand, foot and mouth disease	10.1
467	tooth disease	10.1
468	borderline personality disorder	10.1
469	intracranial aneurysm	10.1
470	respiratory failure	10.1
471	hypoparathyroidism	10.1
472	retinal microaneurysm	10.1
473	heart disease	10.1
474	alternating exotropia	10.1
475	exotropia	10.1
476	sciatic neuropathy	10.1
477	hemopericardium	10.1
478	pericardial effusion	10.1
479	visual epilepsy	10.1
480	mononeuropathy	10.1
481	gastroparesis	10.1
482	synostosis	10.1
483	inflammatory spondylopathy	10.1
484	pica disease	10.1
485	neurogenic bladder	10.1
486	oligohydramnios	10.1
487	transvestism	10.1
488	spinal muscular atrophy	10.1
489	entropion	10.1
490	leukemia	10.1
491	bell's palsy	10.1
492	olecranon bursitis	10.1
493	leiomyoma	10.1
494	migraine without aura	10.1
495	ocular motility disease	10.1
496	choreatic disease	10.1
497	keratoconjunctivitis sicca	10.1
498	dilated cardiomyopathy	10.1
499	carotid stenosis	10.1
500	periventricular leukomalacia	10.1
501	right bundle branch block	10.1
502	tuberous sclerosis	10.1
503	somatization disorder	10.1
504	facial paralysis	10.1
505	bladder neck obstruction	10.1
506	peptic esophagitis	10.1
507	acute cholangitis	10.1
508	root resorption	10.1
509	axenfeld-rieger syndrome	10.1
510	hereditary angioedema	10.1
511	aggressive periodontitis	10.1
512	angioedema	10.1
513	ectropion	10.1
514	renovascular hypertension	10.1
515	mental depression	10.1
516	cystitis	10.1
517	neuritis	10.1
518	impotence	10.1
519	hypogonadism	10.1
520	exostosis	10.1
521	dental caries	10.1
522	ankylosis	10.1
523	craniosynostosis	10.1
524	corneal dystrophy	10.1
525	agammaglobulinemia	10.1
526	benign mesothelioma	10.1
527	transitional cell carcinoma	10.1
528	dermatitis	10.1
529	epidermolysis bullosa	10.1
530	anuria	10.1
531	adenocarcinoma	10.1
532	acute kidney failure	10.1
533	gingivitis	10.1
534	lipid metabolism disorder	10.1
535	tracheal stenosis	10.1
536	bipolar disorder	10.1
537	palmoplantar keratosis	10.1
538	skin carcinoma	10.1
539	brachial plexus neuropathy	10.1
540	gastric adenocarcinoma	10.1
541	anovulation	10.1
542	cranial nerve palsy	10.1
543	thrombophlebitis	10.1
544	lynch syndrome	10.1
545	acute myocarditis	10.1
546	mouth disease	10.1
547	systemic scleroderma	10.1
548	coronary stenosis	10.1
549	conjunctivochalasis	10.1
550	radiculopathy	10.1
551	myofascial pain syndrome	10.1
552	hypotrichosis	10.1
553	multiple chemical sensitivity	10.1
554	intracranial hypotension	10.1
555	cavernous hemangioma	10.1
556	poliomyelitis	10.1
557	gerstmann syndrome	10.1
558	adjustment disorder	10.1
559	nutritional deficiency disease	10.1
560	aortic disease	10.1
561	intestinal disease	10.1
562	dystonia	10.1
563	tricuspid valve prolapse	10.1
564	bronchitis	10.1
565	severe combined immunodeficiency	10.1
566	pulmonary valve stenosis	10.1
567	spondylitis	10.1
568	spinal stenosis	10.1
569	peroneal nerve paralysis	10.1
570	situs inversus	10.1
571	gastrointestinal system disease	10.1
572	hemarthrosis	10.1
573	carotid artery occlusion	10.1
574	appendicitis	10.1
575	intestinal obstruction	10.1
576	ileus	10.1
577	pellagra	10.1
578	arthritis	10.1
579	dermatitis herpetiformis	10.1
580	eating disorder	10.1
581	lupus erythematosus	10.1
582	neuromyelitis optica	10.1
583	learning disability	10.1
584	degenerative disc disease	10.1
585	pityriasis versicolor	10.1
586	macroglobulinemia	10.1
587	amyloidosis	10.1
588	periodic limb movement disorder	10.1
589	diabetes mellitus	10.1
590	cholangitis	10.1
591	pulmonary embolism	10.1
592	bronchiectasis	10.1
593	dextrocardia	10.1
594	neurofibroma	10.1
595	stomatitis	10.1
596	aphthous stomatitis	10.1
597	pulmonary emphysema	10.1
598	vitreous detachment	10.1
599	hemorrhoid	10.1
600	polyarteritis nodosa	10.1
601	radioulnar synostosis	10.1
602	morquio syndrome	10.1
603	atp6v0a2-related cutis laxa	10.1
604	cleidocranial dysplasia spectrum disorder	10.1
605	aneurysm of sinus of valsalva	10.1
606	bilateral frontal polymicrogyria	10.1
607	boerhaave syndrome	10.1
608	cardiac rupture	10.1
609	central pain syndrome	10.1
610	cerebrospinal fluid leak	10.1
611	chromosomal triplication	10.1
612	chromosome 6q deletion	10.1
613	cystic adenomatoid malformation of lung	10.1
614	dwarfism	10.1
615	encephalocele	10.1
616	erythrokeratoderma ''en cocardes''	10.1
617	gigantism	10.1
618	hemangioendothelioma	10.1
619	neonatal stroke	10.1
620	new daily-persistent headache	10.1
621	parsonage turner syndrome	10.1
622	pili torti	10.1
623	pontine hemorrhage	10.1
624	single ventricular heart	10.1
625	synovial chondromatosis	10.1
626	tarlov cysts	10.1
627	wandering spleen	10.1
628	depression	10.1
629	farsightedness	10.1
630	hereditary xanthinuria	10.1
631	juvenile primary osteoporosis	10.1
632	brain injury	10.1
633	floppy infant syndrome	10.1
634	hereditary neuropathies	10.1
635	hypersomnia	10.1
636	infantile hypotonia	10.1
637	myoclonus	10.1
638	myotonia	10.1
639	paresthesia	10.1
640	syncope	10.1
641	traumatic brain injury	10.1
642	tremor	10.1
643	angioosteohypertrophic syndrome	10.1
644	interatrial communication	10.1
645	rapidly involuting congenital hemangioma	10.1
646	epithelioid hemangioendothelioma	10.1
647	autosomal dominant epidermolytic ichthyosis	10.1
648	drug-induced vasculitis	10.1
649	bilateral polymicrogyria	10.1
650	cerebral cortical dysplasia	10.1
651	solitary rectal ulcer syndrome	10.1
652	chronic intestinal failure	10.1
653	avascular necrosis	10.1
654	spontaneous intracranial hypotension	10.1
655	pik3ca-related overgrowth syndrome	10.1
656	rare vascular disease	10.1
657	monostotic fibrous dysplasia	10.1
658	premature aging	10.1
659	rare tumor	10.1
660	cardiogenic shock	10.1
661	atrial septal aneurysm	10.1
662	larsen syndrome	10.1	FLNA DSE CHST14 B4GALT7 B3GALT6
663	variola major	10.1
664	chlamydia	10.1
665	neutropenia	10.1
666	gastroenteritis	10.1
667	kidney disease	10.1
668	smallpox	10.1
669	asthma	10.0
670	tetanus	10.0
671	dumping syndrome	10.0
672	thrombocytopenia	10.0
673	cellulitis	10.0
674	meningitis	10.0
675	hypoglycemia	10.0
676	larsen-like syndrome b3gat3 type	10.0	SLC39A13 DSE CHST14 B4GALT7 B3GALT6 AEBP1
677	hypothyroidism	10.0
678	alcohol use disorder	10.0
679	cholecystitis	10.0
680	acute pyelonephritis	10.0
681	measles	10.0
682	heparin-induced thrombocytopenia	10.0
683	syringoma	10.0
684	discoid lupus erythematosus	10.0
685	temtamy preaxial brachydactyly syndrome	10.0	B4GALT7 B3GALT6
686	atherosclerosis susceptibility	10.0
687	gallbladder disease 1	10.0
688	sickle cell anemia	10.0
689	encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	10.0
690	urolithiasis	10.0
691	bacteriuria	10.0
692	encephalopathy	10.0
693	hepatitis c virus	9.9
694	diabetes mellitus, ketosis-prone	9.9
695	angina pectoris	9.9
696	covid-19	9.9
697	cholelithiasis	9.9
698	amnestic disorder	9.9
699	acute leukemia	9.9
700	prostatitis	9.9
701	status epilepticus	9.9
702	hepatitis c	9.9
703	panic disorder	9.9
704	active peptic ulcer disease	9.9
705	hyperthyroidism	9.9
706	crohn's disease	9.9
707	spinal cord injury	9.9
708	breast cancer	9.9
709	cardiac arrhythmia	9.9
710	acrocallosal syndrome	9.9
711	immune deficiency disease	9.9
712	proteasome-associated autoinflammatory syndrome 1	9.9
713	dysphasia, familial developmental	9.9
714	human immunodeficiency virus type 1	9.9
715	peripartum cardiomyopathy	9.9
716	peyronie's disease	9.9
717	atrioventricular block	9.9
718	specific language impairment	9.9
719	childhood acute lymphocytic leukemia	9.9
720	polycystic kidney disease	9.9
721	osteomyelitis	9.9
722	left bundle branch hemiblock	9.9
723	pre-eclampsia	9.9
724	hydronephrosis	9.9
725	teratocarcinoma	9.9
726	hyperglycemia	9.9
727	liver cirrhosis	9.9
728	end stage renal disease	9.9
729	epiglottitis	9.9
730	bacterial meningitis	9.9
731	fasciitis	9.9
732	necrotizing fasciitis	9.9
733	febrile seizures	9.9
734	odontochondrodysplasia	9.8	PLOD1 FLNA COL5A2 COL5A1 COL3A1 COL1A2
735	alcohol dependence	9.8
736	alzheimer disease	9.8
737	autoimmune disease	9.8
738	colorectal cancer	9.8
739	camurati-engelmann disease	9.8
740	hypercholesterolemia, familial, 1	9.8
741	obsessive-compulsive disorder	9.8
742	prostate cancer	9.8
743	small cell cancer of the lung	9.8
744	tracheoesophageal fistula with or without esophageal atresia	9.8
745	lymphoma, hodgkin, classic	9.8
746	hypogonadism, male	9.8
747	myxedema	9.8
748	body mass index quantitative trait locus 11	9.8
749	arts syndrome	9.8
750	ribbing disease	9.8
751	body mass index quantitative trait locus 9	9.8
752	body mass index quantitative trait locus 8	9.8
753	microvascular complications of diabetes 1	9.8
754	lymphoma, non-hodgkin, familial	9.8
755	body mass index quantitative trait locus 4	9.8
756	body mass index quantitative trait locus 10	9.8
757	body mass index quantitative trait locus 7	9.8
758	body mass index quantitative trait locus 12	9.8
759	body mass index quantitative trait locus 14	9.8
760	microvascular complications of diabetes 2	9.8
761	microvascular complications of diabetes 5	9.8
762	dengue virus	9.8
763	body mass index quantitative trait locus 18	9.8
764	carbonic anhydrase va deficiency, hyperammonemia due to	9.8
765	spastic paraplegia, intellectual disability, nystagmus, and obesity	9.8
766	body mass index quantitative trait locus 19	9.8
767	body mass index quantitative trait locus 20	9.8
768	pulmonary hypertension	9.8
769	withdrawal disorder	9.8
770	alexithymia	9.8
771	gallbladder disease	9.8
772	middle east respiratory syndrome	9.8
773	pertussis	9.8
774	diphtheria	9.8
775	cauda equina syndrome	9.8
776	dengue disease	9.8
777	plica syndrome	9.8
778	severe pre-eclampsia	9.8
779	porphyria	9.8
780	eclampsia	9.8
781	premature ejaculation	9.8
782	anodontia	9.8
783	benign paroxysmal positional nystagmus	9.8
784	ureterolithiasis	9.8
785	cholera	9.8
786	acute chest syndrome	9.8
787	pericarditis	9.8
788	hepatitis b	9.8
789	vaginitis	9.8
790	thrombophilia	9.8
791	psychotic disorder	9.8
792	opiate dependence	9.8
793	suppurative periapical periodontitis	9.8
794	cervicitis	9.8
795	synovitis	9.8
796	contact dermatitis	9.8
797	bronchiolitis	9.8
798	breast ductal carcinoma	9.8
799	plague	9.8
800	lactic acidosis	9.8
801	hypokalemia	9.8
802	uremia	9.8
803	infertility	9.8
804	nephrolithiasis	9.8
805	chronic kidney disease	9.8
806	septic arthritis	9.8
807	herpes zoster	9.8
808	herpes simplex	9.8
809	autosomal dominant polycystic kidney disease	9.8
810	encephalitis	9.8
811	pathologic nystagmus	9.8
812	heroin dependence	9.8
813	bronchopulmonary dysplasia	9.8
814	cytokine deficiency	9.8
815	splenomegaly	9.8
816	periodic paralysis	9.8
817	pneumococcal meningitis	9.8
818	buschke-ollendorff syndrome	9.7
819	williams-beuren syndrome	9.7
820	posttransplant acute limbic encephalitis	9.7
821	ectodermal dysplasia	9.7
822	bladder cancer	9.6
823	hepatocellular carcinoma	9.6
824	complement component 4, partial deficiency of	9.6
825	diabetes mellitus, noninsulin-dependent	9.6
826	esophageal cancer	9.6
827	hashimoto thyroiditis	9.6
828	renal cell carcinoma, nonpapillary	9.6
829	intussusception	9.6
830	keratitis, hereditary	9.6
831	nephrolithiasis, calcium oxalate	9.6
832	hypokalemic periodic paralysis, type 1	9.6
833	normokalemic periodic paralysis	9.6
834	pheochromocytoma	9.6
835	porphyria, acute intermittent	9.6
836	rheumatoid arthritis	9.6
837	neural tube defects	9.6
838	torticollis	9.6
839	vitreoretinopathy, neovascular inflammatory	9.6
840	wilms tumor 1	9.6
841	wolff-parkinson-white syndrome	9.6
842	anemia, hypochromic microcytic, with iron overload 1	9.6
843	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	9.6
844	enterocolitis	9.6
845	myeloma, multiple	9.6
846	subacute sclerosing panencephalitis	9.6
847	achromatopsia 3	9.6
848	anemia, nonspherocytic hemolytic, due to g6pd deficiency	9.6
849	mend syndrome	9.6
850	congenital hemidysplasia with ichthyosiform erythroderma and limb defects	9.6
851	aging	9.6
852	pituitary adenoma, prolactin-secreting	9.6
853	patent ductus venosus	9.6
854	convulsions, familial infantile, with paroxysmal choreoathetosis	9.6
855	homocysteinemia	9.6
856	cervical cancer	9.6
857	late-onset retinal degeneration	9.6
858	creatinine clearance quantitative trait locus	9.6
859	coronary heart disease 1	9.6
860	aspirin resistance	9.6
861	leukemia, chronic myeloid	9.6
862	aplastic anemia	9.6
863	colorectal cancer, hereditary nonpolyposis, type 2	9.6
864	west nile virus	9.6
865	malaria	9.6
866	cavitary optic disc anomalies	9.6
867	kawasaki disease	9.6
868	ewing sarcoma	9.6
869	acute promyelocytic leukemia	9.6
870	gastric cancer	9.6
871	cyanosis, transient neonatal	9.6
872	pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	9.6
873	ullrich congenital muscular dystrophy 2	9.6
874	global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	9.6
875	hemophagocytic lymphohistiocytosis	9.6
876	inflammatory diarrhea	9.6
877	hypophosphatemia	9.6
878	foodborne botulism	9.6
879	hyperphosphatemia	9.6
880	hypochromic microcytic anemia	9.6
881	metabolic acidosis	9.6
882	peripheral artery disease	9.6
883	cervical dystonia	9.6
884	oral squamous cell carcinoma	9.6
885	adrenal gland pheochromocytoma	9.6
886	dental abscess	9.6
887	physical disorder	9.6
888	myoglobinuria	9.6
889	pelvic inflammatory disease	9.6
890	neuroretinitis	9.6
891	mumps	9.6
892	pneumonic plague	9.6
893	tonsillitis	9.6
894	meningoencephalitis	9.6
895	acute cervicitis	9.6
896	portal hypertension	9.6
897	methemoglobinemia	9.6
898	filariasis	9.6
899	hypospadias	9.6
900	hydrocephalus	9.6
901	discitis	9.6
902	ovarian disease	9.6
903	depersonalization disorder	9.6
904	sarcoma	9.6
905	esophageal varix	9.6
906	opioid abuse	9.6
907	spondyloarthropathy	9.6
908	social phobia	9.6
909	cat-scratch disease	9.6
910	rabies	9.6
911	lemierre's syndrome	9.6
912	epidural abscess	9.6
913	xanthogranulomatous pyelonephritis	9.6
914	hypertensive heart disease	9.6
915	hypertensive retinopathy	9.6
916	coronary thrombosis	9.6
917	hypertrophic cardiomyopathy	9.6
918	optic neuritis	9.6
919	dengue hemorrhagic fever	9.6
920	paranoid schizophrenia	9.6
921	male infertility	9.6
922	bronchopneumonia	9.6
923	dysentery	9.6
924	shigellosis	9.6
925	hepatic coma	9.6
926	acoustic neuroma	9.6
927	locked-in syndrome	9.6
928	ancylostomiasis	9.6
929	guillain-barre syndrome	9.6
930	transient global amnesia	9.6
931	uveitis	9.6
932	brain cancer	9.6
933	mesenteric vascular occlusion	9.6
934	color blindness	9.6
935	hepatic encephalopathy	9.6
936	urethritis	9.6
937	coccidioidomycosis	9.6
938	hyperparathyroidism	9.6
939	patent foramen ovale	9.6
940	beriberi	9.6
941	hypoactive sexual desire disorder	9.6
942	achromatopsia	9.6
943	interstitial cystitis	9.6
944	calcific tendinitis	9.6
945	generalized anxiety disorder	9.6
946	pyuria	9.6
947	papilledema	9.6
948	urticaria	9.6
949	retinal vascular occlusion	9.6
950	cryptosporidiosis	9.6
951	urethral stricture	9.6
952	optic nerve disease	9.6
953	trichomoniasis	9.6
954	post-traumatic stress disorder	9.6
955	tularemia	9.6
956	hepatitis	9.6
957	iron metabolism disease	9.6
958	wernicke encephalopathy	9.6
959	retinal vascular disease	9.6
960	enamel erosion	9.6
961	splenic abscess	9.6
962	splenic infarction	9.6
963	pyelitis	9.6
964	nonspecific interstitial pneumonia	9.6
965	glucosephosphate dehydrogenase deficiency	9.6
966	newcastle disease	9.6
967	acute porphyria	9.6
968	neurilemmoma	9.6
969	teratoma	9.6
970	fibrosarcoma	9.6
971	pancreatic ductal adenocarcinoma	9.6
972	brain stem infarction	9.6
973	middle cerebral artery infarction	9.6
974	anterior cerebral artery infarction	9.6
975	superior mesenteric artery syndrome	9.6
976	mast cell neoplasm	9.6
977	intermittent claudication	9.6
978	plasmacytoma	9.6
979	vaginal discharge	9.6
980	pleural empyema	9.6
981	posterior cerebral artery infarction	9.6
982	pyoderma	9.6
983	spindle cell sarcoma	9.6
984	ebola hemorrhagic fever	9.6
985	myofibroma	9.6
986	rhinitis	9.6
987	ludwig's angina	9.6
988	extracutaneous mastocytoma	9.6
989	prostate disease	9.6
990	trachea carcinoma	9.6
991	neurotic disorder	9.6
992	ureteral obstruction	9.6
993	urinary tract obstruction	9.6
994	human immunodeficiency virus infectious disease	9.6
995	paraphimosis	9.6
996	anterograde amnesia	9.6
997	schizoaffective disorder	9.6
998	acute stress disorder	9.6
999	lymphopenia	9.6
1000	conjunctivitis	9.6
1001	prion disease	9.6
1002	inherited metabolic disorder	9.6
1003	anisakiasis	9.6
1004	thyroiditis	9.6
1005	anthrax disease	9.6
1006	peptic ulcer disease	9.6
1007	peptic ulcer perforation	9.6
1008	neuroblastoma	9.6
1009	childhood leukemia	9.6
1010	cocaine abuse	9.6
1011	mediastinitis	9.6
1012	corneal ulcer	9.6
1013	mucormycosis	9.6
1014	chickenpox	9.6
1015	myeloid leukemia	9.6
1016	in situ carcinoma	9.6
1017	bacterial pneumonia	9.6
1018	priapism	9.6
1019	viral infectious disease	9.6
1020	status asthmaticus	9.6
1021	croup	9.6
1022	tenosynovitis	9.6
1023	biliary tract disease	9.6
1024	emphysematous cholecystitis	9.6
1025	drug dependence	9.6
1026	hemophilia	9.6
1027	trichorhinophalangeal syndrome	9.6
1028	broken heart syndrome	9.6
1029	carcinoma showing thymus-like differentiation	9.6
1030	eales disease	9.6
1031	fibromatosis	9.6
1032	haemophilus influenzae	9.6
1033	herpes simplex encephalitis	9.6
1034	herpes zoster ophthalmicus	9.6
1035	idiopathic spinal cord herniation	9.6
1036	infantile scoliosis	9.6
1037	may-thurner syndrome	9.6
1038	mondor disease	9.6
1039	posterior urethral valves	9.6
1040	slipped capital femoral epiphysis	9.6
1041	spondylarthropathy	9.6
1042	stenotrophomonas maltophilia infection	9.6
1043	swyer-james syndrome	9.6
1044	thyrotoxic periodic paralysis	9.6
1045	opioid addiction	9.6
1046	cerebral atrophy	9.6
1047	cerebral beriberi	9.6
1048	fainting	9.6
1049	paraneoplastic syndromes	9.6
1050	whiplash	9.6
1051	cyanide poisoning	9.6
1052	argyria	9.6
1053	cocaine intoxication	9.6
1054	diffuse alveolar hemorrhage	9.6
1055	dementia pugilistica	9.6
1056	vitreoretinopathy	9.6
1057	streptococcal toxic-shock syndrome	9.6

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:

⁴⁵ (showing 7, show less)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.18	AEBP1 C1R CHST14 COL1A1 COL1A2 COL3A1
2	growth/size/body region	MP:0005378	10.15	ADAMTS2 AEBP1 CHST14 COL1A1 COL1A2 COL3A1
3	integument	MP:0010771	10.13	ADAMTS2 AEBP1 CHST14 COL1A1 COL1A2 COL3A1
4	mortality/aging	MP:0010768	10.07	AEBP1 B3GALT6 CHST14 COL1A1 COL1A2 COL3A1
5	respiratory system	MP:0005388	9.7	ADAMTS2 C1R COL1A1 COL3A1 COL5A2 FLNA
6	skeleton	MP:0005390	9.61	ADAMTS2 CHST14 COL1A1 COL1A2 COL5A2 FLNA
7	vision/eye	MP:0005391	9.23	B3GALT6 COL1A1 COL1A2 COL5A1 COL5A2 FLNA

Sources

Drugs & Therapeutics for Ehlers-Danlos Syndrome

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

(showing 43, show less)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Celiprolol

Approved, Investigational

Phase 4

56980-93-9

Adrenergic beta-Antagonists

Phase 4

Adrenergic beta-1 Receptor Antagonists

Phase 4

Adrenergic Agents

Phase 4

Adrenergic Antagonists

Phase 4

Neurotransmitter Agents

Phase 4

Vasodilator Agents

Phase 4

Sympathomimetics

Phase 4

Irbesartan

Approved, Investigational

Phase 3

138402-11-6

3749

Angiotensin II

Approved, Investigational

Phase 3

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

172198

Antihypertensive Agents

Phase 3

Angiotensin II Type 1 Receptor Blockers

Phase 3

Angiotensinogen

Phase 3

Angiotensin Receptor Antagonists

Phase 3

Giapreza

Phase 3

Zoledronic Acid

Approved

118072-93-8

68740

Hyaluronic acid

Approved, Vet_approved

9004-61-9

53477741

Mecasermin

Approved, Investigational

68562-41-4

Acetylcholine

Approved, Investigational

51-84-3

187

Ethanol

Approved

64-17-5

702

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

Micronutrients

Trace Elements

Vitamins

Vitamin B Complex

Nutrients

Folate

Dermatologic Agents

Photosensitizing Agents

Vitamin B2

Vitamin B9

Analgesics, Opioid

Liver Extracts

Immunoglobulins

Antibodies

Anti-Arrhythmia Agents

Sodium Channel Blockers

Anesthetics

Anesthetics, Local

Diuretics, Potassium Sparing

Interventional clinical trials:

(showing 47, show less)

#	Name	Status	NCT ID	Phase	Drugs
1	VeinViewer Assisted Intravenous Catheter Placement in the Pediatric Emergency Department	Unknown status	NCT00468065	Phase 4
2	Prevention of Vascular Complications by BetaBlocker Treatment in Vascular Ehlers-Danlos Syndrome	Completed	NCT00190411	Phase 4	celiprolol;Control
3	Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome: a Double Blind, Randomized, Placebo Controlled, Multicenter Trial.	Recruiting	NCT02597361	Phase 3	Irbesartan;Placebo
4	A Pilot Study of Mind-Body Therapy for Chronic Pain in Ehlers-Danlos Syndrome	Completed	NCT00001966	Phase 2	Mind-body therapy
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	Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI	Unknown status	NCT01307527		Riboflavin
8	Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital	Unknown status	NCT03169192		Zoledronic Acid
9	Tolerance and Efficacy Evaluation of Three Face Creams in Subjects Undergoing to Injection Procedure With Hyaluronic Acid (Intradermal Implant)	Unknown status	NCT02063971
10	Evaluation of an Education Program for Patients With Hypermobility Type Ehlers-Danlos Syndrome	Completed	NCT02817490
11	Identification of Plasmatic Biomarkers in Vascular Ehlers-Danlos Syndrome	Completed	NCT02165085
12	Obstructive Sleep Apnoea in Children and Adolescents With Ehlers-Danlos Syndrome	Completed	NCT02712060
13	Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders	Completed	NCT00001641
14	Obstructive Sleep Apnoea in Ehlers-Danlos Syndrome	Completed	NCT02435745
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	Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue	Completed	NCT00270686
17	National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions	Completed	NCT01322165
18	IGF-I Stimulation of Collagen Synthesis in Ehlers-Danlos Patients	Completed	NCT01446783		mecasermin;Saline
19	Opiod-Free Intravenous Anesthesia for Patients With Joint Hypermobility Syndrome Undergoing Craneo-Cervical Fixation: A Case-series Study Focused on Anti-hyperalgesic Approach	Completed	NCT04437589
20	Vascular Fundus Changes in Patients With High Probability of CCSVI (Chronic Cerebrospinal Venous Insufficiency)	Completed	NCT01356134
21	Assessment of Gastric Motility on Funtional Dyspepsia and Joint Hypermobility Syndrome	Completed	NCT04279990
22	Establishment of Local Arterial Stiffness Normal Values (Carotid and Femoral) on Healthy Volunteers Using Supersonic Shear Imaging	Completed	NCT01096264
23	Investigating the Effects of Exercises in Addition to Dynamic Compression Brace in Patients With Pectus Carinatum: a Single Blinded Randomized Controlled Trial	Completed	NCT03559244
24	Operative Versus Non-operative Treatment of Achilles Tendon Rupture: A Multicentre, Prospective Randomized Study.	Completed	NCT00284648
25	Evaluation of the Effect of Custom Compression Garments on Standing Static Balance in Ehlers Danlos Syndrome	Recruiting	NCT03986229
26	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
27	Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome	Recruiting	NCT03596437
28	Validity of Somatosensori Remediation for Postural Control in the Treatment of Ehlers-Danlos Syndrome Hypermobility Type (hEDS)	Recruiting	NCT04020107
29	Understanding Impaired Concentration, Attentional Deficits and Their Pathophysiology in Postural Orthostatic Tachycardia Syndrome (POTS) and Other Autonomic Neuropathies (POTSKog-Study Aachen)	Recruiting	NCT03681080
30	Genetic Risks for Bicuspid Aortic Valve Disease	Recruiting	NCT01823432
31	Evaluation of the Safety and Performance of the Multilayer Flow Modulator (MFM) for the Treatment of Chronic Type B Aortic Dissection	Recruiting	NCT03033771
32	Sleep Disordered Breathing in Marfan Syndrome: Susceptibility and Hemodynamics	Recruiting	NCT03985657
33	Pathogenetic Basis of Aortopathy and Aortic Valve Disease	Recruiting	NCT03440697
34	Assessment of the Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic Imaging - A Monocentric Study	Recruiting	NCT02538822
35	Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan	Recruiting	NCT02985710
36	Retuning the Nervous System in Youth With Chronic Pain	Recruiting	NCT03686748	Early Phase 1
37	Complex Aortic Aneurysm Repair Using Physician Modified Endografts and Custom Made Devices	Recruiting	NCT02050113
38	Impact Study on Cerecare Compression Garments in the Treatment of Ehlers-Danlos Syndromes	Active, not recruiting	NCT03451188
39	Standing Cognition and Co-morbidities of POTS Evaluation	Active, not recruiting	NCT03602482
40	Assessment of Antibodies and Inflammatory Markers in Postural Tachycardia Syndrome	Active, not recruiting	NCT02196376
41	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%
42	Origins and Impact of EDS in Connective Tissues and Skin	Enrolling by invitation	NCT02721797
43	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
44	Efficiency Clinical Study of NOVATEX MEDICAL Pressure Garments in Patients With Ehlers-Danlos Syndrome	Not yet recruiting	NCT03330977
45	Gait Retraining in Patients With Joint Hypermobility Syndrome/Hypermobile Ehlers Danlos Syndrome	Not yet recruiting	NCT03575182
46	Determine the Causative Genetic Variations in Patients With Ehlers-Danlos Syndrome	Suspended	NCT03093493
47	Head Circumference Growth in Children Who Develop Multiple Sclerosis Later in Life -- a Retrospective Analysis	Withdrawn	NCT01377805

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, Bone, Eye, Heart, Lung, Colon, Uterus

Sources

Publications for Ehlers-Danlos Syndrome

Articles related to Ehlers-Danlos Syndrome:

(showing 3173, show less)

#	Title	Authors	PMID	Year
1	Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing. ⁴² ⁶¹	Shin YL...Jang MA	32174067	2020
2	Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome. ⁶¹ ⁴²	Kosho T...Yamada S	31905796	2019
3	Asymptomatic bilateral common iliac artery dissections in previously undiagnosed vascular Ehlers-Danlos syndrome. ⁴² ⁶¹	Lavoie M...Reese J	31791984	2019
4	Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. ⁶¹ ⁵²	Sobey G	24994860	2015
5	The Ehlers-Danlos syndrome. ⁵² ⁶¹	Malfait F...De Paepe A	24443025	2014
6	A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. ⁵⁴ ⁶¹	Kosho T...Matsumoto N	20503305	2010
7	Tenascin-X increases the stiffness of collagen gels without affecting fibrillogenesis. ⁵⁴ ⁶¹	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. ⁵⁴ ⁶¹	Nakamura M...Aizawa T	19477391	2009
12	Determination of beta4-galactosyltransferase-7 activity using high-performance liquid chromatography-electrospray ionization tandem mass spectrometry. ⁵⁴ ⁶¹	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. ⁵⁴ ⁶¹	Boudko SP...Schumacher MA	18805790	2008
14	Vascular type of Ehlers-Danlos syndrome. ⁶¹ ⁵⁴	Watanabe A...Shimada T	19023163	2008
15	Pseudoaneurysm of the peroneal artery: presentation of Ehlers-Danlos syndrome type IV. ⁶¹ ⁵⁴	Mandeville K...Renton S	18485758	2008
16	Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice. ⁵⁴ ⁶¹	Egging DF...Schalkwijk J	18335242	2008
17	FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts. ⁵⁴ ⁶¹	Zoppi N...Colombi M	18405669	2008
18	Natural variation in four human collagen genes across an ethnically diverse population. ⁵⁴ ⁶¹	Chan TF...Kwok PY	18272325	2008
19	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. ⁵⁴ ⁶¹	Gotte M...Kiesel L	18158310	2008
20	Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. ⁵⁴ ⁶¹	Mataix J...Climent JM	18284404	2008
21	A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections. ⁵⁴ ⁶¹	Lee ST...Ki CS	18389341	2008
22	Novel localization of tenascin-X in adult mouse leptomeninges and choroid plexus. ⁶¹ ⁵⁴	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. ⁵⁴ ⁶¹	Ruhland C...Seidler DG	17651433	2007
25	Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome. ⁶¹ ⁵⁴	Blaker H...Autschbach F	17487505	2007
26	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
27	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. ⁵⁴ ⁶¹	Malfait F...De Paepe A	17211858	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. ⁶¹ ⁵⁴	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). ⁶¹ ⁵⁴	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. ⁶¹ ⁵⁴	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. ⁶¹ ⁵⁴	Zweers MC...Schalkwijk J	16567571	2006
36	Dermal connective tissue development in mice: an essential role for tenascin-X. ⁶¹ ⁵⁴	Egging DF...Schalkwijk J	16331473	2006
37	Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. ⁵⁴ ⁶¹	Gomez-Garre P...Serratosa JM	15994863	2006
38	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. ⁵⁴ ⁶¹	Makareeva E...Leikin S	16407265	2006
39	Structural abnormalities of the cornea and lid resulting from collagen V mutations. ⁶¹ ⁵⁴	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. ⁵⁴ ⁶¹	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). ⁶¹ ⁵⁴	Giunta C...Steinmann B	15666309	2005
46	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
47	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
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	Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders. ⁵⁴ ⁶¹	Persikov AV...Brodsky B	15365990	2004
51	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
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. ⁶¹ ⁵⁴	Faiyaz-Ul-Haque M...Teebi AS	15211654	2004
53	Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome. ⁵⁴ ⁶¹	Wenstrup RJ...Birk DE	15095409	2004
54	A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X. ⁵⁴ ⁶¹	Peeters AC...Schalkwijk J	15366699	2004
55	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. ⁶¹ ⁵⁴	Schwarze U...Byers PH	15077201	2004
56	Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. ⁵⁴ ⁶¹	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. ⁶¹ ⁵⁴	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. ⁵⁴ ⁶¹	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. ⁶¹ ⁵⁴	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. ⁶¹ ⁵⁴	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. ⁶¹ ⁵⁴	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. ⁶¹ ⁵⁴	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. ⁵⁴ ⁶¹	Schwarze U...Byers PH	11577371	2001
73	Deficiency of the decorin core protein in the variant form of Ehlers-Danlos syndrome with chronic skin ulcer. ⁵⁴ ⁶¹	Wu J...Shinkai H	11532373	2001
74	A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. ⁵⁴ ⁶¹	Schalkwijk J...Bristow J	11642233	2001
75	Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis. ⁵⁴ ⁶¹	Fernandes RJ...Apte SS	11408482	2001
76	Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene. ⁶¹ ⁵⁴	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. ⁶¹ ⁵⁴	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. ⁵⁴ ⁶¹	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. ⁵⁴ ⁶¹	De Panfilis G...Colombi M	10651716	2000
82	Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII. ⁶¹ ⁵⁴	Raff ML...Byers PH	10982177	2000
83	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? ⁵⁴ ⁶¹	Giunta C...Steinmann B	10602121	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. ⁵⁴ ⁶¹	Gilchrist D...Byers PH	10051163	1999
87	Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV. ⁵⁴ ⁶¹	Collins MH...Byers PH	9841712	1999
88	Cloning and characterization of a third human lysyl hydroxylase isoform. ⁵⁴ ⁶¹	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. ⁶¹ ⁵⁴	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. ⁵⁴ ⁶¹	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	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. ⁵⁴ ⁶¹	Smith LT...Byers PH	9036918	1997
98	Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. ⁶¹ ⁵⁴	Liu X...Jaenisch R	9050868	1997
99	Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. ⁶¹ ⁵⁴	De Paepe A...Naeyaert JM	9042913	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. ⁶¹ ⁵⁴	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). ⁶¹ ⁵⁴	Wenstrup RJ...Cole WG	8923000	1996
103	COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. ⁶¹ ⁵⁴	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. ⁵⁴ ⁶¹	Mackay K...Dalgleish R	8884076	1996
106	Collagen peptides in osteogenesis imperfecta, idiopathic juvenile osteoporosis and Ehlers--Danlos syndrome. ⁵⁴ ⁶¹	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. ⁵⁴ ⁶¹	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. ⁶¹ ⁵⁴	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. ⁶¹ ⁵⁴	Milewicz DM...Byers PH	8317500	1993
117	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
118	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
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. ⁵⁴ ⁶¹	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. ⁵⁴ ⁶¹	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. ⁶¹ ⁵⁴	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. ⁶¹ ⁵⁴	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. ⁵⁴ ⁶¹	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. ⁵⁴ ⁶¹	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. ⁶¹ ⁵⁴	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. ⁶¹ ⁵⁴	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. ⁵⁴ ⁶¹	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]. ⁵⁴ ⁶¹	Sokolov BP...Kalinin VN	2343586	1990
134	Myopic regression and recurrent Salzmann nodule degeneration after laser in situ keratomileusis in Ehlers Danlos Syndrome. ⁶¹	Hopping GC...Moshirfar M	32426553	2020
135	Primary Total Hip Arthroplasty in Patients With Ehlers-Danlos Syndrome: A Retrospective Matched-Cohort Study. ⁶¹	Guier C...Wilke B	32577483	2020
136	Myofascial Flap Closure in Treatment for Patients With Craniocervical Instability and Ehlers-Danlos Syndrome. ⁶¹	Lu C...Otterburn DM	32187067	2020
137	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
138	Vascular Ehlers-Danlos syndrome: can the beneficial effect of celiprolol be extrapolated to bisoprolol? ⁶¹	Gorosabel MC...Matyas G	31693161	2020
139	Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome. ⁶¹	Delbaere S...Malfait F	31862401	2020
140	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
141	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
142	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
143	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
144	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
145	Vascular Ehlers-Danlos Syndrome: Literature review and surgical management of intracranial vascular complications. ⁶¹	Olubajo F...Choudhari KA	32197145	2020
146	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
147	Anesthetic management of a patient with musculocontractural Ehlers-Danlos syndrome undergoing scoliosis surgery. ⁶¹	Wakabayashi R...Kawamata M	32529513	2020
148	Cardiac involvement in classical or hypermobile Ehlers-Danlos syndrome is uncommon. ⁶¹	Paige SL...Collins RT	32518415	2020
149	Gynecologic Management of Pediatric and Adolescent Patients with Ehlers-Danlos Syndrome. ⁶¹	Hernandez AMC...Dietrich JE	31883462	2020
150	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
151	Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis. ⁶¹	Guven S...Celbis O	32442117	2020
152	Anterior Capsule Augmentation and Posterior Glenohumeral Capsular Reconstruction With Human Dermal Allograft for Multidirectional Shoulder Instability. ⁶¹	Gallagher F...Wong IH	32489841	2020
153	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
154	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
155	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
156	Arterial complications in classical Ehlers-Danlos syndrome: a case series. ⁶¹	Angwin C...Ghali N	32467296	2020
157	Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. ⁶¹	Ayoub S...van Dijk FS	32091183	2020
158	[Pulmonary vascular Ehlers-Danlos syndrome: a clinicopathological analysis of three cases]. ⁶¹	Liu CP...Chen ZC	32392932	2020
159	Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome. ⁶¹	Syx D...Malfait AM	32483055	2020
160	Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. ⁶¹	Lautrup CK...Kosho T	32130795	2020
161	Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome. ⁶¹	Jayarajan SN...Jim J	32423364	2020
162	Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders. ⁶¹	Ritelli M...Colombi M	32414079	2020
163	Ehlers-Danlos syndrome with huge bladder diverticulum in pregnancy - A rare and interesting case report. ⁶¹	Pradhan N...Sundaresh DC	32480169	2020
164	Direct Distal Renal Artery Aneurysm Repair. ⁶¹	Jayet J...Koskas F	32402807	2020
165	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
166	Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report. ⁶¹	Liu YA...Lee AF	32338564	2020
167	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
168	Posterior Shoulder Instability: Surgical Outcomes and Risk of Failure in Adolescence. ⁶¹	Asturias AM...Edmonds EW	32125876	2020
169	Mechanical allodynia in mice with tenascin-X deficiency associated with Ehlers-Danlos syndrome. ⁶¹	Okuda-Ashitaka E...Matsumoto KI	32300146	2020
170	Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study. ⁶¹	Lisi C...Savasta S	28211643	2020
171	Successful endovascular treatment of multiple systemic aneurysms in a patient with vascular Ehlers-Danlos syndrome. ⁶¹	Li X...Chen G	32318814	2020
172	Bariatric Surgery is feasible in patients with Ehlers-Danlos Syndrome. ⁶¹	Verdure L...Blanchard C	32417148	2020
173	A review of Ehlers-Danlos syndrome. ⁶¹	Miller E...Grosel JM	32175940	2020
174	Zinc and Its Transporters in Epigenetics. ⁶¹	Brito S...Lee JS	32274919	2020
175	Relationship of rare disorder latent clusters to anxiety and depression symptoms. ⁶¹	Bogart KR...Dermody SS	31855040	2020
176	Audit of Gastrointestinal Manifestations in Patients with Loeys-Dietz Syndrome and Vascular Ehlers-Danlos Syndrome. ⁶¹	Wang XJ...Camilleri M	32306189	2020
177	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
178	DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability. ⁶¹	Schirwani S...Jewell R	31655143	2020
179	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
180	Survey of Ehlers-Danlos Patients' ophthalmic surgery experiences. ⁶¹	Louie A...Singman EL	31989797	2020
181	Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations. ⁶¹	Angwin C...van Dijk FS	31141158	2020
182	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
183	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
184	Clinical variability in children with dolichoarteriopathies of the internal carotid artery. ⁶¹	Foiadelli T...Savasta S	31701280	2020
185	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
186	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
187	Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome. ⁶¹	Miller AJ...Arnold AC	31954224	2020
188	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
189	COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. ⁶¹	Morlino S...Castori M	31794058	2020
190	Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome. ⁶¹	Fernandez-Flores A...Barja-Lopez JM	32170975	2020
191	Ruptured ulnar artery aneurysm in vascular Ehlers-Danlos syndrome. ⁶¹	Howard R...Osborne N	32072093	2020
192	Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome. ⁶¹	Callaghan MB...Turnpenny PD	31833208	2020
193	Pain due to Ehlers-Danlos Syndrome Is Associated with Deficit of the Endogenous Pain Inhibitory Control. ⁶¹	Leone CM...Truini A	32176287	2020
194	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
195	Inherited cause of in utero digital malformations. ⁶¹	Gooch C...Robin N	32209574	2020
196	Family history of associated disorders in patients with postural tachycardia syndrome. ⁶¹	Boris JR...Bernadzikowski T	32008600	2020
197	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
198	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
199	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
200	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
201	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	2020
202	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
203	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
204	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
205	Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome. ⁶¹	Bowen CJ...Dietz HC	31639107	2020
206	Ehlers-Danlos syndrome presenting with primary nocturnal enuresis. ⁶¹	Cunha M...Marques I	32024714	2020
207	Podiatry alterations in Ehlers-Danlos syndrome. ⁶¹	Palomo-Toucedo IC...Reina-Bueno M	31255365	2020
208	Isolated Renal Artery Dissection: A Systematic Review of Case Reports. ⁶¹	Jha A...Garcia L	32076589	2020
209	Problems in the orofacial region associated with Ehlers-Danlos and Marfan syndromes: a case series. ⁶¹	Van Camp N...Politis C	31859106	2020
210	Prenatal care and labor in patients with mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia). ⁶¹	Makatsariya A...Makatsariya N	29938556	2020
211	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
212	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
213	The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. ⁶¹	Ishikawa Y...Bachinger HP	31949249	2020
214	The Current Status of Genes and Genetic Testing in Emergency Medicine: A Narrative Review. ⁶¹	Aghamir SMK...Khatami F	31938779	2020
215	Investigating uncommon vascular diseases using the Vascular Low Frequency Disease Consortium. ⁶¹	Lawrence PF...Woo K	31964572	2020
216	Effect of shading and grafting on yield and quality of tomato. ⁶¹	Milenkovic L...Ilic ZS	31591726	2020
217	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
218	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
219	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
220	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
221	Classic Ehlers-Danlos Syndrome: Clinical and Ultrasound Findings. ⁶¹	Herrero-Moyano M...Hernandez-Martin A	32169283	2020
222	The Many Facets of Hypermobile Ehlers-Danlos Syndrome. ⁶¹	Riley B	31904772	2020
223	Case - Penile fracture in a patient with Ehlers-Danlos syndrome. ⁶¹	Biebel M...Munarriz R	31670645	2020
224	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
225	Obesity surgery and Ehlers-Danlos syndrome: challenges and considerations based on a case report. ⁶¹	Gerogiannis IN...Sgromo B	31530171	2020
226	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
227	Low function of natural killer cells in treated classic Menkes disease. ⁶¹	Bhat JN...Maertens P	32558428	2020
228	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
229	Effects of Rhythmic Sensory Stimulation on Ehlers-Danlos Syndrome: A Pilot Study. ⁶¹	Vuong V...Bartel L	32399126	2020
230	Structured Rehabilitation Program for Multidirectional Shoulder Instability in a Patient with Ehlers-Danlos Syndrome. ⁶¹	Kitagawa T...Nakaizumi D	32089933	2020
231	High Prevalence of Connective Tissue Gene Variants in Professional Ballet. ⁶¹	Vera AM...Harris JD	31765226	2020
232	A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. ⁶¹	Shalhub S...Woo K	31353273	2020
233	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
234	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
235	Bent Out of Shape: A Case of Abdominal Pain. ⁶¹	Chaganti P...Chao JH	30346365	2019
236	Stabilization of Recurrent Elbow Instability in a Patient with Ehlers-Danlos Syndrome: A Case Report. ⁶¹	Schneider AM...Salazar DH	31850912	2019
237	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
238	Sudden death in acrogeria Gottron type. ⁶¹	Maiese A...Fineschi V	31673870	2019
239	Detection of target collagen peptides with single amino acid mutation using two fluorescent peptide probes. ⁶¹	Sun X...Xiao J	31566640	2019
240	Extradural Compressive Spinal Cerebrospinal Fluid Leak in Ehlers-Danlos Syndrome. ⁶¹	Pradini-Santos L...Sayal PP	31479794	2019
241	Physical exercise for people with hereditable thoracic aortic disease. A study of patient perspectives. ⁶¹	Velvin G...Lidal I	31847606	2019
242	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
243	Vascular Ehlers-Danlos Syndrome Diagnosed in a Patient Initiating Hemodialysis. ⁶¹	Ouchi H...Nangaku M	31891008	2019
244	A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome. ⁶¹	Olson SL...Skeik N	31394236	2019
245	Subglottic tracheal stenosis associated with Ehlers-Danlos Syndrome, Hypermobilty Type. ⁶¹	Guiraudet P...Martinod E	31476586	2019
246	Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia. ⁶¹	Barbitoff YA...Predeus AV	31482689	2019
247	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
248	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
249	Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study. ⁶¹	Aghajanyan A...Konjevoda P	30342098	2019
250	Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome. ⁶¹	Micale L...Castori M	31775249	2019
251	Vascular Ehlers-Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations. ⁶¹	Konieczynska M...Undas A	31575845	2019
252	Penile fracture in a patient with Ehlers-Danlos syndrome: A case report. ⁶¹	Liu JL...Burnett AL	31641596	2019
253	Symptomatic Joint Hypermobility: The Hypermobile Type of Ehlers-Danlos Syndrome and the Hypermobility Spectrum Disorders. ⁶¹	Tinkle BT...Levy HP	31582002	2019
254	Oro-dental characteristics in patients with hypermobile Ehlers-Danlos Syndrome compared to a healthy control group. ⁶¹	Honore MB...Sonnesen L	31206735	2019
255	Hemothorax in vascular Ehlers-Danlos syndrome. ⁶¹	Alvarez K...Jose Angel H	29050841	2019
256	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
257	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
258	Anterior Capsule Reconstruction of the Native Hip: A Technique Guide. ⁶¹	Kurz AZ...Ayeni OR	32042580	2019
259	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
260	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
261	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
262	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	2019
263	Case Report: Drug-induced Leukocytoclastic Vasculitis in a Patient with Classic Ehlers-Danlos Syndrome. ⁶¹	Bourji K...Dogra B	31788374	2019
264	Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant. ⁶¹	Rymen D...Colombi M	31731524	2019
265	Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder. ⁶¹	Hakim AJ	31329982	2019
266	Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. ⁶¹	Bauer A...Leeb T	31365140	2019
267	Median Arcuate Ligament Syndrome and Its Associated Conditions. ⁶¹	Huynh DTK...Shouhed D	31657316	2019
268	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
269	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
270	Power-Injection Injury in a Patient with Ehlers-Danlos Syndrome. ⁶¹	Davis JR...Tomihama RT	31279686	2019
271	[Therapy of Peripheral Artery Aneurysms]. ⁶¹	Jung G...Schmitz-Rixen T	31634974	2019
272	Nonatherosclerotic Abdominal Vasculopathies. ⁶¹	Skeik N...Sullivan T	31200053	2019
273	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
274	Carotid Artery Tortuosity Is Associated with Connective Tissue Diseases. ⁶¹	Welby JP...Brinjikji W	31558499	2019
275	Restoring extracellular matrix synthesis in senescent stem cells. ⁶¹	Rong N...Andreadis ST	31287964	2019
276	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
277	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
278	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
279	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
280	The skin rejuvenation associated treatment-Fraxel laser, Microbotox, and low G prime hyaluronic acid: preliminary results. ⁶¹	Bertossi D...Nocini PF	30762198	2019
281	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
282	Confirmation That Angioid Streaks Are Not Common in Ehlers-Danlos Syndrome. ⁶¹	Mahroo OA...Hykin PG	31556922	2019
283	[Ocular manifestations in Ehlers-Danlos Syndromes: Clinical study of 21 patients]. ⁶¹	Perez-Roustit S...Bremond-Gignac D	31133401	2019
284	Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome. ⁶¹	Bauer A...Bateman FL	31546637	2019
285	Molecular underpinnings of integrin binding to collagen-mimetic peptides containing vascular Ehlers-Danlos syndrome-associated substitutions. ⁶¹	Hoop CL...Baum J	31406019	2019
286	Use of Cluster Analysis to Delineate Symptom Profiles in an Ehlers-Danlos Syndrome Patient Population. ⁶¹	Schubart JR...Bascom R	31153935	2019
287	Neuromuscular activation differences during gait in patients with Ehlers-Danlos syndrome and healthy adults. ⁶¹	Robbins SM...Hazel EM	31498548	2019
288	Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications. ⁶¹	Ewans LJ...Roscioli T	31129566	2019
289	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
290	The Chalice Sign : Characteristic Morphology of the Cervical Carotid Bifurcation in Patients with Loeys-Dietz Syndrome. ⁶¹	Benson JC...Brinjikji W	31552453	2019
291	Recognizing and Effectively Managing Hypermobility-Related Conditions. ⁶¹	Russek LN...Simmonds J	31158283	2019
292	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
293	Utilization of echocardiography in Ehlers-Danlos syndrome. ⁶¹	Rauser-Foltz KK...Yetman AT	31328377	2019
294	Symptom complaints and impact on functioning in youth with hypermobile Ehlers-Danlos syndrome. ⁶¹	Tran ST...Tinkle BT	31370685	2019
295	Fragility of Life: Recurrent Intestinal Perforation Due to Vascular Ehlers-Danlos Syndrome. ⁶¹	Sceats LA...Kin C	30656563	2019
296	Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. ⁶¹	Ritelli M...Colombi M	31438591	2019
297	Leukocytoclastic vasculitis with Koebner phenomenon associated with Ehlers Danlos syndrome. ⁶¹	Haddock EES...Marsch AF	31388534	2019
298	Genetic basis of hereditary thoracic aortic aneurysms and dissections. ⁶¹	Takeda N...Komuro I	31000321	2019
299	Safety of Endoscopy in Heritable Connective Tissue Disorders. ⁶¹	Kilaru SM...Wolf JL	31185005	2019
300	Patient perspectives on employment participation in the "hypermobile Ehlers-Danlos syndrome". ⁶¹	De Baets S...Van de Velde D	31287330	2019
301	An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome. ⁶¹	Martin A	31102747	2019
302	Underlying Ehlers-Danlos syndrome discovered during neuro-ophthalmic evaluation of concussion patients: a case series. ⁶¹	Gami A...Singman EL	31345188	2019
303	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
304	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
305	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
306	Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. ⁶¹	Kuivaniemi H...Tromp G	31075413	2019
307	Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency. ⁶¹	Sandler-Wilson C...Shinawi M	30914273	2019
308	[Syndromes with skin fragility]. ⁶¹	Reimer A...Has C	31197392	2019
309	Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1. ⁶¹	Lin Z...Wang X	31239369	2019
310	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
311	Intestinal Perforation in Children as an Important Differential Diagnosis of Vascular Ehlers-Danlos Syndrome. ⁶¹	Park KY...Kohler JE	31324749	2019
312	Pain in hypermobile Ehlers-Danlos syndrome: New insights using new criteria. ⁶¹	Benistan K...Martinez V	31075184	2019
313	Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: A Retrospective Review. ⁶¹	Adham S...Frank M	31188187	2019
314	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
315	Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type: a qualitative interview study. ⁶¹	Bennett SE...Palmer S	31318301	2019
316	Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. ⁶¹	Legrand A...Jeunemaitre X	30474650	2019
317	You're the Flight Surgeon. ⁶¹		31101147	2019
318	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
319	Classic Ehlers-Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father. ⁶¹	Sen P...Butler MG	31061749	2019
320	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
321	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
322	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
323	Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome. ⁶¹	Syx D...Malfait F	30668708	2019
324	FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report. ⁶¹	Ruiz-Botero F...Pachajoa H	31063316	2019
325	Pseudo-obstruction, enteric dysmotility and irritable bowel syndrome. ⁶¹	Lindberg G	31594655	2019
326	Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. ⁶¹	Pinna R...Cagetti MG	31090139	2019
327	A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly. ⁶¹	Budsamongkol T...Shotelersuk V	31193991	2019
328	Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington. ⁶¹	Gay EA...Hisama FM	30327540	2019
329	The Genetics of Pneumothorax. ⁶¹	Boone PM...Raby BA	30681372	2019
330	Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses. ⁶¹	Velvin G...Geirdal AO	30788842	2019
331	Clinical Case of Acute Non-Traumatic Hand Compartment Syndrome and Systematic Review for the Upper Extremity. ⁶¹	Ogrodnik J...Forte AJ	31215795	2019
332	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
333	Percutaneous Embolization of an Inferior Mesenteric Artery Aneurysm in a Patient With Type IV Ehlers-Danlos Syndrome. ⁶¹	Rahman Q...Stone WM	30630391	2019
334	Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing. ⁶¹	Cortini F...Bassotti A	30826961	2019
335	Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review. ⁶¹	Frank M...Jeunemaitre X	30357907	2019
336	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
337	Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2. ⁶¹	Guarnieri V...Castori M	30821104	2019
338	Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen. ⁶¹	Lu Y...Han J	31218159	2019
339	TNX deficiency results in bone loss due to an increase in multinucleated osteoclasts. ⁶¹	Kajitani N...Matsumoto KI	30922562	2019
340	Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study. ⁶¹	Rolfes MC...Derauf C	30856599	2019
341	Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome. ⁶¹	Kalisch L...Baeza-Velasco C	31060411	2019
342	Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. ⁶¹	Shalhub S...Milewicz DM	30793832	2019
343	FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome ⁶¹	Giunta C...Baumann M	31132235	2019
344	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
345	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
346	Morphometric analysis of thoracic aorta in Slc39a13/Zip13-KO mice. ⁶¹	Hirose T...Takehana K	30610452	2019
347	[Up-to-date classification and multidisciplinary symptoms of Ehlers-Danlos syndromes]. ⁶¹	Ralovich FV...Medvecz M	30983397	2019
348	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
349	Hypermobile type Ehlers-Danlos syndrome associated with hypogammaglobulinemia and fibromyalgia: A case-based review on new classification, diagnosis, and multidisciplinary management. ⁶¹	Zhang W...Taunton DO	30997063	2019
3

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: