Ehlers-Danlos syndrome type 2

General Information (adopted from Orphanet):

Synonyms, Signs: EDS II
EHLERS DANLOS SYNDROME, MITIS TYPE
EHLERS DANLOS SYNDROME, MILD CLASSIC TYPE
EDS2
Number of Symptoms 34
OrphanetNr: 90318
OMIM Id: 130010
ICD-10: Q79.6
UMLs: C0268336
MeSH: C536195
MedDRA:
Snomed: 20766005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0010285) Oral synechia Occasional [Orphanet] 31 / 7739
4
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
5
 (HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
6
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
7
 (HPO:0001388) Joint laxity 117 / 7739
8
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
9
 (HPO:0002758) Osteoarthritis 78 / 7739
10
 (HPO:0000767) Pectus excavatum Frequent [Orphanet] 244 / 7739
11
 (HPO:0002577) Abnormality of the stomach Frequent [Orphanet] 84 / 7739
12
 (HPO:0100592) Peritoneal abscess Occasional [Orphanet] 10 / 7739
13
 (HPO:0000775) Abnormality of the diaphragm Frequent [Orphanet] 62 / 7739
14
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
15
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
16
 (HPO:0000993) Molluscoid pseudotumors 8 / 7739
17
 (HPO:0000978) Bruising susceptibility Frequent [Orphanet] 123 / 7739
18
 (HPO:0001482) Subcutaneous nodule 17 / 7739
19
 (HPO:0000963) Thin skin Frequent [Orphanet] 96 / 7739
20
 (HPO:0001030) Fragile skin 25 / 7739
21
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
22
 (HPO:0001073) Cigarette-paper scars 7 / 7739
23
 (HPO:0000977) Soft skin 23 / 7739
24
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
25
 (HPO:0008069) Neoplasm of the skin Occasional [Orphanet] 84 / 7739
26
 (HPO:0005293) Venous insufficiency Frequent [Orphanet] 27 / 7739
27
 (HPO:0001724) Aortic dilatation Frequent [Orphanet] 24 / 7739
28
 (HPO:0002647) Aortic dissection Occasional [Orphanet] 14 / 7739
29
 (HPO:0001634) Mitral valve prolapse 69 / 7739
30
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
31
 (HPO:0002619) Varicose veins 11 / 7739
32
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
33
 (OMIM) Subcutaneous spheroids 1 / 7739
34
 (OMIM) Soft, velvety skin 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 EDS II has all the stigmata of EDS I (see 130000), but to a minor degree, and some patients may easily remain undiagnosed. Joint laxity is limited and may be confined to the hands and feet. Skin involvement ...
Molecular genetics OMIM De Paepe et al. (1997) demonstrated a heterozygous splicing mutation in the COL5A1 gene (120215.0005) in a father and 2 sons with type II EDS.

Richards et al. (1998) demonstrated a missense mutation in the COL5A2 ...