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Ehlers-Danlos syndrome type 2
1 OMIM reference -
2 associated genes
10 connected diseases
24 signs/symptoms
Disease Type of connection
Ehlers-Danlos syndrome type 1
Autosomal recessive Stickler syndrome
Fibrochondrogenesis
Marshall syndrome
Osteogenesis imperfecta type 3
Stickler syndrome type 2
Bilateral striopallidodentate calcinosis
Dermatofibrosarcoma protuberans
Familial multiple meningioma
Congenital stromal corneal dystrophy
Synonym(s):
- EDS II
Classification (Orphanet):
- 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
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536195
Gene symbol UniProt reference OMIM reference
COL5A1 P20908120215
COL5A2 P05997120190
Very frequent
- Autosomal dominant inheritance
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Skin hypoplasia / aplasia / atrophy

Frequent
- Aortic dilatation / dilation
- Bruisability
- Diaphragmatic hernia / defect / agenesis
- Flat foot
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Herniae
- Inguinal / inguinoscrotal / crural hernia
- Pectus carinatum
- Pectus excavatum
- Thin skin
- Umbilical hernia
- Varices / varicous veins / venous insufficiency

Occasional
- Aortic dissection
- Bladder / vesical diverticulum
- Chronic arterial hypertension
- Oral synechiae / abnormal frenulae
- Peritonitis / peritoneal abscess
- Recurrent urinary infections
- Retinal detachment
- Skin tumors / lumps / epidermal cysts