Ehlers-Danlos syndrome type 1

General Information (adopted from Orphanet):

Synonyms, Signs: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE
EHLERS-DANLOS SYNDROME, GRAVIS TYPE
EDS1
EDS I
Number of Symptoms 59
OrphanetNr: 90309
OMIM Id: 130000
ICD-10: Q79.6
UMLs: C0268335
MeSH: C536194
MedDRA:
Snomed: 83470009

Prevalence, inheritance and age of onset:

Prevalence: 5 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ehlers-Danlos syndrome, classic type
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare odontologic disease
 -Rare skin disease
 -Rare surgical thoracic disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000015) Bladder diverticulum Occasional [Orphanet] 15 / 7739
2
 (HPO:0000010) Recurrent urinary tract infections Occasional [Orphanet] 56 / 7739
3
 (HPO:0000286) Epicanthus 371 / 7739
4
 (HPO:0002010) Narrow maxilla 3 / 7739
5
 (HPO:0010285) Oral synechia Occasional [Orphanet] 31 / 7739
6
 (HPO:0001083) Ectopia lentis 45 / 7739
7
 (HPO:0000545) Myopia 286 / 7739
8
 (HPO:0000592) Blue sclerae 85 / 7739
9
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
10
 (HPO:0000394) Lop ear 6 / 7739
11
 (HPO:0002816) Genu recurvatum Frequent [Orphanet] 30 / 7739
12
 (HPO:0002827) Hip dislocation 94 / 7739
13
 (HPO:0003179) Protrusio acetabuli 37 / 7739
14
 (HPO:0002999) Patellar dislocation 46 / 7739
15
 (HPO:0002758) Osteoarthritis 78 / 7739
16
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
17
 (HPO:0005021) Bilateral elbow dislocations 24 / 7739
18
 (HPO:0012095) Multiple joint dislocation 24 / 7739
19
 (HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
20
 (HPO:0003042) Elbow dislocation 89 / 7739
21
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
22
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
23
 (HPO:0003834) Shoulder dislocation 28 / 7739
24
 (HPO:0001373) Joint dislocation Very frequent [Orphanet] 59 / 7739
25
 (HPO:0003994) Dislocated wrist 24 / 7739
26
 (HPO:0001822) Hallux valgus Frequent [Orphanet] 70 / 7739
27
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
28
 (HPO:0005100) Premature birth following premature rupture of fetal membranes 2 / 7739
29
 (HPO:0000023) Inguinal hernia 181 / 7739
30
 (HPO:0005222) Bowel diverticulosis 2 / 7739
31
 (HPO:0100592) Peritoneal abscess Occasional [Orphanet] 10 / 7739
32
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
33
 (HPO:0000775) Abnormality of the diaphragm Frequent [Orphanet] 62 / 7739
34
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
35
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
36
 (HPO:0004322) Short stature 1232 / 7739
37
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
38
 (HPO:0001058) Poor wound healing 9 / 7739
39
 (HPO:0001030) Fragile skin 25 / 7739
40
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
41
 (HPO:0000977) Soft skin 23 / 7739
42
 (HPO:0001073) Cigarette-paper scars 7 / 7739
43
 (HPO:0000978) Bruising susceptibility Frequent [Orphanet] 123 / 7739
44
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
45
 (HPO:0000993) Molluscoid pseudotumors 8 / 7739
46
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
47
 (HPO:0002616) Aortic root dilatation 27 / 7739
48
 (HPO:0002647) Aortic dissection Occasional [Orphanet] 14 / 7739
49
 (HPO:0001654) Abnormality of the heart valves Occasional [Orphanet] 49 / 7739
50
 (HPO:0005293) Venous insufficiency Frequent [Orphanet] 27 / 7739
51
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
52
 (HPO:0001724) Aortic dilatation Frequent [Orphanet] 24 / 7739
53
 (HPO:0001634) Mitral valve prolapse 69 / 7739
54
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
55
 (OMIM) Small, irregularly placed teeth 1 / 7739
56
 (OMIM) Wide, thin scars 1 / 7739
57
 (OMIM) Hypermobile 1 / 7739
58
 (OMIM) Spheroids 2 / 7739
59
 (OMIM) Spontaneous bowel rupture 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility (Beighton, 1993).

In the Villefranche classification of EDS (Beighton et al., ...
Clinical Description OMIM Graf (1965) reported a brother and sister with Ehlers-Danlos syndrome who developed 'spontaneous' carotid-cavernous fistula. Internal complications included rupture of large vessels, hiatus hernia, spontaneous rupture of the bowel, and diverticula of the bowel. Retinal detachment has been ...
Molecular genetics OMIM Wenstrup et al. (1996) demonstrated that affected individuals in one of the EDS I COL5A1-linked families were heterozygous for a 4-bp deletion in intron 65 which led to a 234-bp deletion of exon 65 in the processed mRNA ...