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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
2 OMIM references -
1 associated gene
22 signs/symptoms
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Stickler syndrome type 1

COL2A1 COL2A1


COMMON
GENES
COL2A1



Citations in the biomedical literature:


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
COL2A1
Stickler syndrome type 1



Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Stickler syndrome type 1

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
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 -
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
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references

Stickler syndrome type 1

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


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

(no data available)