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Stickler syndrome type 2
1 OMIM reference -
1 associated gene
23 connected diseases
8 signs/symptoms
Disease Type of connection
Autosomal recessive Stickler syndrome
Marshall syndrome
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 2
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Familial avascular necrosis of femoral head
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537493

Gene symbol UniProt reference OMIM reference
COL11A1 P12107120280
Very frequent
- Cataract / lens opacification
- Corneal clouding / opacity / vascularisation
- Myopia
- Retinal detachment
- Sensorineural deafness / hearing loss
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation

- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Retinopathy