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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Familial avascular necrosis of femoral head
Multiple epiphyseal dysplasia type 1

COL2A1 COMP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL2A1
(0.52)
COMP



Citations in the biomedical literature:


Familial avascular necrosis of femoral head
COL2A1
Multiple epiphyseal dysplasia type 1
COMP



Familial avascular necrosis of femoral head
Multiple epiphyseal dysplasia type 1

Synonym(s):
- Familial osteonecrosis of the femoral head

Synonym(s):
- EDM1
- MED1
- Polyepiphyseal dysplasia type 1

Classification (Orphanet):
- Rare bone disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
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:
1 OMIM reference -
1 MeSH reference: C535501

Multiple epiphyseal dysplasia type 1

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
- Restricted joint mobility / joint stiffness / ankylosis
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Occasional
- Genu valgum
- Genu varum


Familial avascular necrosis of femoral head

(no data available)