Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 4
2 OMIM references -
4 associated genes
17 signs/symptoms
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Autosomal recessive Stickler syndrome

COL2A1 COL11A1
COL9A1
COL9A2
COL9A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL2A1
COL2A1
COL2A1
COL2A1
(0.75)
(0.62)
(0.52)
(0.52)
COL9A1
COL9A3
COL11A1
COL9A2



Citations in the biomedical literature:


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
COL2A1
Autosomal recessive Stickler syndrome
COL11A1 COL9A1 COL9A2 COL9A3



Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Autosomal recessive Stickler syndrome

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: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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

Autosomal recessive Stickler syndrome

Very frequent
- Autosomal recessive inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Flat face
- Genu valgum
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism

Frequent
- Abnormal vertebral size / shape
- Astigmatism
- Epiphyseal anomaly
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Myopia
- Platyspondyly
- Retinitis pigmentosa / retinal pigmentary changes
- Retinopathy
- Visual loss / blindness / amblyopia
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation



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

(no data available)