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Stickler syndrome type 1
2 OMIM references -
1 associated gene
57 connected diseases
22 signs/symptoms
Disease Type of connection
Otospondylomegaepiphyseal dysplasia
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Familial avascular necrosis of femoral head
Hypochondrogenesis
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
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
Autosomal recessive Stickler syndrome
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Fibrochondrogenesis
Autosomal dominant macrothrombocytopenia
Camurati-Engelmann disease
Cystic fibrosis
Fetal and neonatal alloimmune thrombocytopenia
Glanzmann thrombasthenia
20p12.3 microdeletion syndrome
Brachydactyly type A2
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Ménière disease
Bilateral striopallidodentate calcinosis
Dermatofibrosarcoma protuberans
Familial multiple meningioma
Anaplastic ependymoma
CARASIL
Hyaluronidase deficiency
Fibronectin glomerulopathy
Granular corneal dystrophy type I
Granular corneal dystrophy type II
Lattice corneal dystrophy type I
Microcystic corneal dystrophy
Reis-Bücklers corneal dystrophy
Thiel-Behnke corneal dystrophy
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Bethlem myopathy
Congenital muscular dystrophy, Ullrich type
Immunodeficiency due to an early component of complement deficiency
Marshall syndrome
Metaphyseal anadysplasia
Multiple epiphyseal dysplasia type 1
Pseudoachondroplasia
Severe generalized recessive dystrophic epidermolysis bullosa
Spondyloepimetaphyseal dysplasia, Missouri type
Stickler syndrome type 2
Stickler syndrome type 3
Weissenbacher- Zweymuller syndrome
Congenital stromal corneal dystrophy
Synonym(s):
(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:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL2A1 P02458120140
Very frequent
- Autosomal dominant inheritance
- Cataract / lens opacification
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Long philtrum
- Myopia
- Retinal detachment
- Short / small nose
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Frequent
- Articular / joint pain / arthralgia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Epiphyseal anomaly
- Epiphyseal vertebral anomaly
- Hyperextensible joints / articular hyperlaxity
- Marfanoid morphotype
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Osteoarthritis
- Platyspondyly
- Proptosis / exophthalmos
- Sensorineural deafness / hearing loss

Occasional
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Visual loss / blindness / amblyopia