EDS
MCID: EHL001
MIFTS: 58

Ehlers-Danlos Syndrome (EDS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

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:

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

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...

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:



Diseases related to Ehlers-Danlos Syndrome

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

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
1
Celiprolol Approved, Investigational Phase 4 56980-93-9
2 Adrenergic beta-Antagonists Phase 4
3 Adrenergic beta-1 Receptor Antagonists Phase 4
4 Adrenergic Agents Phase 4
5 Adrenergic Antagonists Phase 4
6 Neurotransmitter Agents Phase 4
7 Vasodilator Agents Phase 4
8 Sympathomimetics Phase 4
9
Irbesartan Approved, Investigational Phase 3 138402-11-6 3749
10
Angiotensin II Approved, Investigational Phase 3 4474-91-3, 11128-99-7, 68521-88-0 172198
11 Antihypertensive Agents Phase 3
12 Angiotensin II Type 1 Receptor Blockers Phase 3
13 Angiotensinogen Phase 3
14 Angiotensin Receptor Antagonists Phase 3
15 Giapreza Phase 3
16
Zoledronic Acid Approved 118072-93-8 68740
17
Hyaluronic acid Approved, Vet_approved 9004-61-9 53477741
18
Mecasermin Approved, Investigational 68562-41-4
19
Acetylcholine Approved, Investigational 51-84-3 187
20
Ethanol Approved 64-17-5 702
21
Lidocaine Approved, Vet_approved 137-58-6 3676
22
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
23
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
24
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
25 Micronutrients
26 Trace Elements
27 Vitamins
28 Vitamin B Complex
29 Nutrients
30 Folate
31 Dermatologic Agents
32 Photosensitizing Agents
33 Vitamin B2
34 Vitamin B9
35 Analgesics, Opioid
36 Liver Extracts
37 Immunoglobulins
38 Antibodies
39 Anti-Arrhythmia Agents
40 Sodium Channel Blockers
41 Anesthetics
42 Anesthetics, Local
43 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

Genetic Tests for Ehlers-Danlos Syndrome

Genetic tests related to Ehlers-Danlos Syndrome:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome 29

Anatomical Context for Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Ehlers-Danlos Syndrome:

40
Skin, Bone, Eye, Heart, Lung, Colon, Uterus

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
32174067 2020
2
Recent Advances in the Pathophysiology of Musculocontractural Ehlers-Danlos Syndrome. 61 42
31905796 2019
3
Asymptomatic bilateral common iliac artery dissections in previously undiagnosed vascular Ehlers-Danlos syndrome. 42 61
31791984 2019
4
Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. 61 52
24994860 2015
5
The Ehlers-Danlos syndrome. 52 61
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
20503305 2010
7
Tenascin-X increases the stiffness of collagen gels without affecting fibrillogenesis. 54 61
20089348 2010
8
Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. 54 61
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
19639654 2009
10
Ehlers-Danlos type IV in pregnancy with a history of myocardial infarction. 54 61
19751346 2009
11
Vascular Ehlers-Danlos syndrome--all three coronary artery spontaneous dissections. 54 61
19477391 2009
12
Determination of beta4-galactosyltransferase-7 activity using high-performance liquid chromatography-electrospray ionization tandem mass spectrometry. 54 61
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
18805790 2008
14
Vascular type of Ehlers-Danlos syndrome. 61 54
19023163 2008
15
Pseudoaneurysm of the peroneal artery: presentation of Ehlers-Danlos syndrome type IV. 61 54
18485758 2008
16
Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice. 54 61
18335242 2008
17
FAK-independent alphavbeta3 integrin-EGFR complexes rescue from anoikis matrix-defective fibroblasts. 54 61
18405669 2008
18
Natural variation in four human collagen genes across an ethnically diverse population. 54 61
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
18158310 2008
20
Periodontal Ehlers-Danlos syndrome associated with type III and I collagen deficiencies. 54 61
18284404 2008
21
A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections. 54 61
18389341 2008
22
Novel localization of tenascin-X in adult mouse leptomeninges and choroid plexus. 61 54
18595676 2008
23
Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies. 54 61
17702048 2007
24
The glycosaminoglycan chain of decorin plays an important role in collagen fibril formation at the early stages of fibrillogenesis. 54 61
17651433 2007
25
Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome. 61 54
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
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
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
17453911 2007
29
Interactions of human tenascin-X domains with dermal extracellular matrix molecules. 61 54
17033827 2007
30
A model of tenascin-X integration within the collagenous network. 61 54
17078949 2006
31
A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations. 61 54
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
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
16816023 2006
34
Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages. 61 54
16492673 2006
35
Abdominal aortic aneurysm is associated with high serum levels of tenascin-X and decreased aneurysmal tissue tenascin-X. 61 54
16567571 2006
36
Dermal connective tissue development in mice: an essential role for tenascin-X. 61 54
16331473 2006
37
Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 54 61
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
16407265 2006
39
Structural abnormalities of the cornea and lid resulting from collagen V mutations. 61 54
16431952 2006
40
Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome. 54 61
16937863 2006
41
Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. 54 61
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
15979919 2005
43
Caffey disease: an unlikely collagenopathy. 54 61
15864344 2005
44
Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. 54 61
15793839 2005
45
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 61 54
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
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
15859521 2005
48
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 54 61
15668422 2005
49
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). 61 54
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
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
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
15211654 2004
53
Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome. 54 61
15095409 2004
54
A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X. 54 61
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
15077201 2004
56
Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. 54 61
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
14970208 2004
58
Exclusion of candidate genes in a family with arterial tortuosity syndrome. 61 54
15054833 2004
59
Management of spontaneous colonic perforation in Ehlers-Danlos syndrome type IV. 61 54
14966763 2004
60
Vascular Ehlers-Danlos syndrome. 54 61
15127738 2004
61
Tenascins: regulation and putative functions during pathological stress. 61 54
12845616 2003
62
Transforming growth factor-beta induces secretion of activated ADAMTS-2. A procollagen III N-proteinase. 61 54
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
12694234 2003
64
Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations. 61 54
12417421 2002
65
Localization and analysis of the principal promoter for human tenascin-X. 54 61
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
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
12173720 2002
68
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. 54 61
11992482 2002
69
Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. 61 54
11925569 2002
70
Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3. 61 54
11741898 2002
71
Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. 61 54
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
11577371 2001
73
Deficiency of the decorin core protein in the variant form of Ehlers-Danlos syndrome with chronic skin ulcer. 54 61
11532373 2001
74
A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. 54 61
11642233 2001
75
Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis. 54 61
11408482 2001
76
Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene. 61 54
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
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
10923041 2000
79
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. 54 61
10777716 2000
80
Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 61 54
10739762 2000
81
Dexamethasone-induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin. 54 61
10651716 2000
82
Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII. 61 54
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
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
10417273 1999
85
Ehlers-Danlos syndrome type VII: clinical features and molecular defects. 61 54
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
10051163 1999
87
Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV. 54 61
9841712 1999
88
Cloning and characterization of a third human lysyl hydroxylase isoform. 54 61
9724729 1998
89
Genetic diseases with rheumatic manifestations in children. 61 54
9746866 1998
90
Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV. 61 54
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
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
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
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
9295084 1997
95
Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. 54 61
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
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
9036918 1997
98
Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. 61 54
9050868 1997
99
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. 61 54
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
8981946 1997
101
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. 54 61
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
8923000 1996
103
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. 61 54
8881656 1996
104
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. 54 61
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
8884076 1996
106
Collagen peptides in osteogenesis imperfecta, idiopathic juvenile osteoporosis and Ehlers--Danlos syndrome. 54 61
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
8547032 1995
108
Cerebrovascular complications in Ehlers-Danlos syndrome type IV. 54 61
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
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
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
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
8071956 1994
113
Correction of the defective extracellular matrix of Ehlers-Danlos syndrome skin fibroblasts by dexamethasone. 54 61
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
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
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
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
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
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
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
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
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
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
1370809 1992
124
Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele. 54 61
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
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
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
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
1990839 1991
129
Clinical screening for collagen defects in connective tissue diseases. 61 54
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
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
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
2349939 1990
133
[Structural characteristics of collagens from the skin and rib cartilage of patients with Ehlers-Danlos syndrome type II]. 54 61
2343586 1990
134
Myopic regression and recurrent Salzmann nodule degeneration after laser in situ keratomileusis in Ehlers Danlos Syndrome. 61
32426553 2020
135
Primary Total Hip Arthroplasty in Patients With Ehlers-Danlos Syndrome: A Retrospective Matched-Cohort Study. 61
32577483 2020
136
Myofascial Flap Closure in Treatment for Patients With Craniocervical Instability and Ehlers-Danlos Syndrome. 61
32187067 2020
137
The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency. 61
32291442 2020
138
Vascular Ehlers-Danlos syndrome: can the beneficial effect of celiprolol be extrapolated to bisoprolol? 61
31693161 2020
139
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome. 61
31862401 2020
140
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility. 61
32572181 2020
141
Comment on "Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review". 61
32504190 2020
142
Mechanisms of aortic carboxypeptidase-like protein secretion and identification of an intracellularly retained variant associated with Ehlers-Danlos syndrome. 61
32482891 2020
143
Response to "Quantitative measures of tissue mechanics to detect hypermobile Ehlers Danlos syndrome and hypermobility syndrome disorders: a systematic review". 61
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
32026810 2020
145
Vascular Ehlers-Danlos Syndrome: Literature review and surgical management of intracranial vascular complications. 61
32197145 2020
146
The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS). 61
31267471 2020
147
Anesthetic management of a patient with musculocontractural Ehlers-Danlos syndrome undergoing scoliosis surgery. 61
32529513 2020
148
Cardiac involvement in classical or hypermobile Ehlers-Danlos syndrome is uncommon. 61
32518415 2020
149
Gynecologic Management of Pediatric and Adolescent Patients with Ehlers-Danlos Syndrome. 61
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
32471395 2020
151
Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis. 61
32442117 2020
152
Anterior Capsule Augmentation and Posterior Glenohumeral Capsular Reconstruction With Human Dermal Allograft for Multidirectional Shoulder Instability. 61
32489841 2020
153
The most common comorbidities in patients with Ehlers-Danlos syndrome: a 15-year nationwide population-based cohort study. 61
32412854 2020
154
Understanding hypermobile Ehlers-Danlos syndrome and Hypermobility Spectrum Disorders in the context of childbearing: An international qualitative study. 61
32535291 2020
155
A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder. 61
32434316 2020
156
Arterial complications in classical Ehlers-Danlos syndrome: a case series. 61
32467296 2020
157
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome. 61
32091183 2020
158
[Pulmonary vascular Ehlers-Danlos syndrome: a clinicopathological analysis of three cases]. 61
32392932 2020
159
Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome. 61
32483055 2020
160
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency. 61
32130795 2020
161
Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome. 61
32423364 2020
162
Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders. 61
32414079 2020
163
Ehlers-Danlos syndrome with huge bladder diverticulum in pregnancy - A rare and interesting case report. 61
32480169 2020
164
Direct Distal Renal Artery Aneurysm Repair. 61
32402807 2020
165
Arthroscopic Ligamentum Teres Reconstruction: Minimum 2-Year Patient-Reported Outcomes With Subanalysis of Patients With Ehlers-Danlos Syndrome. 61
32360268 2020
166
Pathologic Skull Fracture in a Near-Term Neonate with Arthrochalasia Type Ehlers-Danlos Syndrome: A Case Report. 61
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
32293111 2020
168
Posterior Shoulder Instability: Surgical Outcomes and Risk of Failure in Adolescence. 61
32125876 2020
169
Mechanical allodynia in mice with tenascin-X deficiency associated with Ehlers-Danlos syndrome. 61
32300146 2020
170
Postural analysis in a pediatric cohort of patients with Ehlers-Danlos Syndrome: a pilot study. 61
28211643 2020
171
Successful endovascular treatment of multiple systemic aneurysms in a patient with vascular Ehlers-Danlos syndrome. 61
32318814 2020
172
Bariatric Surgery is feasible in patients with Ehlers-Danlos Syndrome. 61
32417148 2020
173
A review of Ehlers-Danlos syndrome. 61
32175940 2020
174
Zinc and Its Transporters in Epigenetics. 61
32274919 2020
175
Relationship of rare disorder latent clusters to anxiety and depression symptoms. 61
31855040 2020
176
Audit of Gastrointestinal Manifestations in Patients with Loeys-Dietz Syndrome and Vascular Ehlers-Danlos Syndrome. 61
32306189 2020
177
Prevalence and Predictors of Gastrointestinal Dysmotility in Patients with Hypermobile Ehlers-Danlos Syndrome: A Tertiary Care Center Experience. 61
32489735 2020
178
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability. 61
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
32295219 2020
180
Survey of Ehlers-Danlos Patients' ophthalmic surgery experiences. 61
31989797 2020
181
Electron microscopy in the diagnosis of Ehlers-Danlos syndromes: correlation with clinical and genetic investigations. 61
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
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
31629650 2020
184
Clinical variability in children with dolichoarteriopathies of the internal carotid artery. 61
31701280 2020
185
Quantitative measures of tissue mechanics to detect hypermobile Ehlers-Danlos syndrome and hypermobility syndrome disorders: a systematic review. 61
31955324 2020
186
Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers-Danlos syndrome clinic: A retrospective review. 61
31840928 2020
187
Prevalence of hypermobile Ehlers-Danlos syndrome in postural orthostatic tachycardia syndrome. 61
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
32161841 2020
189
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap. 61
31794058 2020
190
Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome. 61
32170975 2020
191
Ruptured ulnar artery aneurysm in vascular Ehlers-Danlos syndrome. 61
32072093 2020
192
Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome. 61
31833208 2020
193
Pain due to Ehlers-Danlos Syndrome Is Associated with Deficit of the Endogenous Pain Inhibitory Control. 61
32176287 2020
194
RD repair using 360-degree scleral graft for extensive scleral ectasia in a patient with Ehlers Danlos syndrome. 61
32083221 2020
195
Inherited cause of in utero digital malformations. 61
32209574 2020
196
Family history of associated disorders in patients with postural tachycardia syndrome. 61
32008600 2020
197
Custom-Made Foot Orthoses Reduce Pain and Fatigue in Patients with Ehlers-Danlos Syndrome. A Pilot Study. 61
32093191 2020
198
Management of colonic complications of type IV Ehlers-Danlos syndrome: a systematic review and evidence-based management strategy. 61
31260161 2020
199
Celiprolol but not losartan improves the biomechanical integrity of the aorta in a mouse model of vascular Ehlers-Danlos syndrome. 61
31056650 2020
200
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology. 61
31600821 2020
201
Rome IV Functional Gastrointestinal Disorders and Health Impairment in Subjects With Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome. 61
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
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
31531849 2020
204
Setting a research agenda for vascular Ehlers-Danlos syndrome using a patient and stakeholder engagement model. 61
32115322 2020
205
Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome. 61
31639107 2020
206
Ehlers-Danlos syndrome presenting with primary nocturnal enuresis. 61
32024714 2020
207
Podiatry alterations in Ehlers-Danlos syndrome. 61
31255365 2020
208
Isolated Renal Artery Dissection: A Systematic Review of Case Reports. 61
32076589 2020
209
Problems in the orofacial region associated with Ehlers-Danlos and Marfan syndromes: a case series. 61
31859106 2020
210
Prenatal care and labor in patients with mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia). 61
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
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
31903687 2020
213
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. 61
31949249 2020
214
The Current Status of Genes and Genetic Testing in Emergency Medicine: A Narrative Review. 61
31938779 2020
215
Investigating uncommon vascular diseases using the Vascular Low Frequency Disease Consortium. 61
31964572 2020
216
Effect of shading and grafting on yield and quality of tomato. 61
31591726 2020
217
Local anaesthetic resistance in a patient with Ehlers-Danlos syndrome undergoing caesarean section with continuous spinal anaesthesia. 61
32537613 2020
218
Complications in Children with Ehlers-Danlos Syndrome Following Spine Surgery: Analysis of the Pediatric National Surgery Quality Improvement Program Database. 61
31526884 2020
219
A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome. 61
31609726 2020
220
Assessment of the Information Sources and Interest in Research Collaboration Among Individuals with Vascular Ehlers-Danlos Syndrome. 61
31449940 2020
221
Classic Ehlers-Danlos Syndrome: Clinical and Ultrasound Findings. 61
32169283 2020
222
The Many Facets of Hypermobile Ehlers-Danlos Syndrome. 61
31904772 2020
223
Case - Penile fracture in a patient with Ehlers-Danlos syndrome. 61
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
31668813 2020
225
Obesity surgery and Ehlers-Danlos syndrome: challenges and considerations based on a case report. 61
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
31273343 2020
227
Low function of natural killer cells in treated classic Menkes disease. 61
32558428 2020
228
Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: A cross-sectional study of health burden perspectives. 61
31692252 2020
229
Effects of Rhythmic Sensory Stimulation on Ehlers-Danlos Syndrome: A Pilot Study. 61
32399126 2020
230
Structured Rehabilitation Program for Multidirectional Shoulder Instability in a Patient with Ehlers-Danlos Syndrome. 61
32089933 2020
231
High Prevalence of Connective Tissue Gene Variants in Professional Ballet. 61
31765226 2020
232
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. 61
31353273 2020
233
Arterial Stiffening with Ultrafast Ultrasound Imaging Gives New Insight into Arterial Phenotype of Vascular Ehlers-Danlos Mouse Models. 61
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
31515912 2019
235
Bent Out of Shape: A Case of Abdominal Pain. 61
30346365 2019
236
Stabilization of Recurrent Elbow Instability in a Patient with Ehlers-Danlos Syndrome: A Case Report. 61
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
31391389 2019
238
Sudden death in acrogeria Gottron type. 61
31673870 2019
239
Detection of target collagen peptides with single amino acid mutation using two fluorescent peptide probes. 61
31566640 2019
240
Extradural Compressive Spinal Cerebrospinal Fluid Leak in Ehlers-Danlos Syndrome. 61
31479794 2019
241
Physical exercise for people with hereditable thoracic aortic disease. A study of patient perspectives. 61
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
31685485 2019
243
Vascular Ehlers-Danlos Syndrome Diagnosed in a Patient Initiating Hemodialysis. 61
31891008 2019
244
A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome. 61
31394236 2019
245
Subglottic tracheal stenosis associated with Ehlers-Danlos Syndrome, Hypermobilty Type. 61
31476586 2019
246
Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia. 61
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
31784499 2019
248
Recurrent swelling and pain in the abdomen and joints in a patient with hereditary angioedema and Ehlers-Danlos syndrome. 61
31780602 2019
249
Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study. 61
30342098 2019
250
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome. 61
31775249 2019
251
Vascular Ehlers-Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations. 61
31575845 2019
252
Penile fracture in a patient with Ehlers-Danlos syndrome: A case report. 61
31641596 2019
253
Symptomatic Joint Hypermobility: The Hypermobile Type of Ehlers-Danlos Syndrome and the Hypermobility Spectrum Disorders. 61
31582002 2019
254
Oro-dental characteristics in patients with hypermobile Ehlers-Danlos Syndrome compared to a healthy control group. 61
31206735 2019
255
Hemothorax in vascular Ehlers-Danlos syndrome. 61
29050841 2019
256
A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome. 61
31126764 2019
257
Atypical Symptomatic Bilateral Spontaneous Cavernous Carotid Aneurysm with Systemic Vessel Wall Pathology in Young Female: A Rare Case Report. 61
31903372 2019
258
Anterior Capsule Reconstruction of the Native Hip: A Technique Guide. 61
32042580 2019
259
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6. 61
31614862 2019
260
Multiple Arterial Dissections in a Patient With Vascular Ehlers-Danlos Syndrome Caused by a Frameshift Mutation in COL3A1. 61
31080229 2019
261
Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients. 61
30783660 2019
262
Ehlers-Danlos syndrome-related genes and serum strontium, zinc, and lithium levels in generalized joint hypermobility: a case-control study. 61
31594391 2019
263
Case Report: Drug-induced Leukocytoclastic Vasculitis in a Patient with Classic Ehlers-Danlos Syndrome. 61
31788374 2019
264
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant. 61
31731524 2019
265
Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorder. 61
31329982 2019
266
Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. 61
31365140 2019
267
Median Arcuate Ligament Syndrome and Its Associated Conditions. 61
31657316 2019
268
A homozygous ADAMTS2 nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility. 61
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
31666125 2019
270
Power-Injection Injury in a Patient with Ehlers-Danlos Syndrome. 61
31279686 2019
271
[Therapy of Peripheral Artery Aneurysms]. 61
31634974 2019
272
Nonatherosclerotic Abdominal Vasculopathies. 61
31200053 2019
273
Prevalence of Functional GI Diseases and Pelvic Floor Symptoms in Marfan Syndrome and Ehlers-Danlos Syndrome: A National Cohort Study. 61
30672816 2019
274
Carotid Artery Tortuosity Is Associated with Connective Tissue Diseases. 61
31558499 2019
275
Restoring extracellular matrix synthesis in senescent stem cells. 61
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
30837697 2019
277
Ehlers-Danlos syndrome and other heritable connective tissue disorders that impact pregnancies can be detected using next-generation DNA sequencing. 61
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
31517854 2019
279
Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients. 61
31569816 2019
280
The skin rejuvenation associated treatment-Fraxel laser, Microbotox, and low G prime hyaluronic acid: preliminary results. 61
30762198 2019
281
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. 61
31229653 2019
282
Confirmation That Angioid Streaks Are Not Common in Ehlers-Danlos Syndrome. 61
31556922 2019
283
[Ocular manifestations in Ehlers-Danlos Syndromes: Clinical study of 21 patients]. 61
31133401 2019
284
Identification of Two Independent COL5A1 Variants in Dogs with Ehlers-Danlos Syndrome. 61
31546637 2019
285
Molecular underpinnings of integrin binding to collagen-mimetic peptides containing vascular Ehlers-Danlos syndrome-associated substitutions. 61
31406019 2019
286
Use of Cluster Analysis to Delineate Symptom Profiles in an Ehlers-Danlos Syndrome Patient Population. 61
31153935 2019
287
Neuromuscular activation differences during gait in patients with Ehlers-Danlos syndrome and healthy adults. 61
31498548 2019
288
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications. 61
31129566 2019
289
A three-dimensional analysis of scoliosis progression in non-idiopathic scoliosis: is it similar to adolescent idiopathic scoliosis? 61
31183529 2019
290
The Chalice Sign : Characteristic Morphology of the Cervical Carotid Bifurcation in Patients with Loeys-Dietz Syndrome. 61
31552453 2019
291
Recognizing and Effectively Managing Hypermobility-Related Conditions. 61
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
31347287 2019
293
Utilization of echocardiography in Ehlers-Danlos syndrome. 61
31328377 2019
294
Symptom complaints and impact on functioning in youth with hypermobile Ehlers-Danlos syndrome. 61
31370685 2019
295
Fragility of Life: Recurrent Intestinal Perforation Due to Vascular Ehlers-Danlos Syndrome. 61
30656563 2019
296
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. 61
31438591 2019
297
Leukocytoclastic vasculitis with Koebner phenomenon associated with Ehlers Danlos syndrome. 61
31388534 2019
298
Genetic basis of hereditary thoracic aortic aneurysms and dissections. 61
31000321 2019
299
Safety of Endoscopy in Heritable Connective Tissue Disorders. 61
31185005 2019
300
Patient perspectives on employment participation in the "hypermobile Ehlers-Danlos syndrome". 61
31287330 2019
301
An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome. 61
31102747 2019
302
Underlying Ehlers-Danlos syndrome discovered during neuro-ophthalmic evaluation of concussion patients: a case series. 61
31345188 2019
303
Bilateral Medial and Lateral Patellofemoral Ligament Reconstruction in a Patient with Hypermobility Type Ehlers-Danlos Syndrome: A Case Report. 61
31390333 2019
304
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome. 61
31288483 2019
305
An update on the new classification of Ehlers-Danlos syndrome and review of the causes of bleeding in this population. 61
31329366 2019
306
Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. 61
31075413 2019
307
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency. 61
30914273 2019
308
[Syndromes with skin fragility]. 61
31197392 2019
309
Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1. 61
31239369 2019
310
Genomic analysis of claw lesions in Holstein cows: Opportunities for genomic selection, quantitative trait locus detection, and gene identification. 61
31056323 2019
311
Intestinal Perforation in Children as an Important Differential Diagnosis of Vascular Ehlers-Danlos Syndrome. 61
31324749 2019
312
Pain in hypermobile Ehlers-Danlos syndrome: New insights using new criteria. 61
31075184 2019
313
Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: A Retrospective Review. 61
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
30923956 2019
315
Understanding the psychosocial impact of joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type: a qualitative interview study. 61
31318301 2019
316
Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. 61
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
30913950 2019
319
Classic Ehlers-Danlos Syndrome in a Son and Father with a Heart Transplant Performed in the Father. 61
31061749 2019
320
Re: re: Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome. 61
30967294 2019
321
Prolapse and regurgitation of the four heart valves in a patient with Ehlers-Danlos Syndrome: a case report. 61
31449614 2019
322
Re: Condylectomy: treatment of recurrent unilateral dislocation of the temporomandibular joint in a patient with Ehlers-Danlos syndrome. 61
30992226 2019
323
Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome. 61
30668708 2019
324
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report. 61
31063316 2019
325
Pseudo-obstruction, enteric dysmotility and irritable bowel syndrome. 61
31594655 2019
326
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 61
31090139 2019
327
A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly. 61
31193991 2019
328
Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington. 61
30327540 2019
329
The Genetics of Pneumothorax. 61
30681372 2019
330
Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses. 61
30788842 2019
331
Clinical Case of Acute Non-Traumatic Hand Compartment Syndrome and Systematic Review for the Upper Extremity. 61
31215795 2019
332
The erector spinae plane block in a high-risk Ehlers-Danlos syndrome pediatric patient for vascular ring repair. 61
30391449 2019
333
Percutaneous Embolization of an Inferior Mesenteric Artery Aneurysm in a Patient With Type IV Ehlers-Danlos Syndrome. 61
30630391 2019
334
Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing. 61
30826961 2019
335
Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review. 61
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
31194075 2019
337
Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2. 61
30821104 2019
338
Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen. 61
31218159 2019
339
TNX deficiency results in bone loss due to an increase in multinucleated osteoclasts. 61
30922562 2019
340
Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study. 61
30856599 2019
341
Predictors of pain and mobility disability in the hypermobile Ehlers-Danlos syndrome. 61
31060411 2019
342
Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. 61
30793832 2019
343
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome 61
31132235 2019
344
Cognitive, emotional, and behavioral considerations for chronic pain management in the Ehlers-Danlos syndrome hypermobility-type: a narrative review. 61
29357706 2019
345
A Dual Approach for the Management of Complex Craniovertebral Junction Abnormalities: Endoscopic Endonasal Odontoidectomy and Posterior Decompression with Fusion. 61
31218285 2019
346
Morphometric analysis of thoracic aorta in Slc39a13/Zip13-KO mice. 61
30610452 2019
347
[Up-to-date classification and multidisciplinary symptoms of Ehlers-Danlos syndromes]. 61
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
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
30997063 2019
3