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3 OMIM references -
3 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
19 signs/symptoms
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Otospondylomegaepiphyseal dysplasia

COL9A1 COL11A2
COL9A2 COL2A1
COL9A3


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Multiple epiphyseal dysplasia due to collagen 9 anomaly
COL9A1 COL9A2 COL9A3
Otospondylomegaepiphyseal dysplasia
COL11A2 COL2A1



Multiple epiphyseal dysplasia due to collagen 9 anomaly
Otospondylomegaepiphyseal dysplasia

Synonym(s):
(no synonyms)

Synonym(s):
- OSMED

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Restricted joint mobility / joint stiffness / ankylosis


Multiple epiphyseal dysplasia due to collagen 9 anomaly
Otospondylomegaepiphyseal dysplasia

Very frequent
- Autosomal dominant inheritance
- Epiphyseal anomaly
- Osteoarthritis

Frequent
- Abnormal gait
- Articular / joint pain / arthralgia
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Joint / articular deformation
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Occasional
- Genu valgum
- Genu varum


Very frequent
- Abnormal vertebral size / shape
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat cheek bones / malar hypoplasia
- Flattened nose
- Mesomelic micromelia
- Metaphyseal anomaly
- Sensorineural deafness / hearing loss

Frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Kyphosis
- Lordosis

Occasional
- Carpal bones fusion / synostosis
- Defect / anomaly of lacrimal system
- Strabismus / squint
- Ventricular septal defect / interventricular communication