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3 OMIM references -
3 associated genes
12 signs/symptoms
COMMON GENES: 3
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 3
2 OMIM references -
4 associated genes
17 signs/symptoms
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Autosomal recessive Stickler syndrome

COL9A1 COL11A1
COL9A2 COL9A1
COL9A3 COL9A2
COL9A3


COMMON
GENES
COL9A1
COL9A2
COL9A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL9A1
COL9A1
(0.52)
(0.52)
COL9A2
COL9A3



Citations in the biomedical literature:


Multiple epiphyseal dysplasia due to collagen 9 anomaly
COL9A1 COL9A2 COL9A3
Autosomal recessive Stickler syndrome
COL11A1



Multiple epiphyseal dysplasia due to collagen 9 anomaly
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:
3 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references


COMMON
SIGNS
- Epiphyseal anomaly
- Genu valgum
- Short stature / dwarfism / nanism


Multiple epiphyseal dysplasia due to collagen 9 anomaly
Autosomal recessive Stickler syndrome

Very frequent
- Autosomal dominant inheritance
- Osteoarthritis

Frequent
- Abnormal gait
- Articular / joint pain / arthralgia
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Joint / articular deformation
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia

Occasional
- Genu varum


Very frequent
- Autosomal recessive inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Flat face
- Sensorineural deafness / hearing loss

Frequent
- Abnormal vertebral size / shape
- Astigmatism
- 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