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3 OMIM references -
3 associated genes
12 signs/symptoms
PROTEIN INTERACTIONS: 3
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
9 signs/symptoms
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Legg-Calvé-Perthes disease

COL9A1 COL2A1
COL9A2
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
Legg-Calvé-Perthes disease
COL2A1



Multiple epiphyseal dysplasia due to collagen 9 anomaly
Legg-Calvé-Perthes disease

Synonym(s):
(no synonyms)

Synonym(s):
- Aseptic necrosis of the capital femoral epiphysis
- Osteochondritis of the capital femoral epiphysis
- Osteochondrosis of the capital femoral epiphysis
- Perthes disease

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

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Articular / joint pain / arthralgia
- Joint / articular deformation
- Short stature / dwarfism / nanism


Multiple epiphyseal dysplasia due to collagen 9 anomaly
Legg-Calvé-Perthes disease

Very frequent
- Autosomal dominant inheritance
- Epiphyseal anomaly
- Osteoarthritis

Frequent
- Abnormal gait
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia

Occasional
- Genu valgum
- Genu varum


Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Cartilage destruction / chondrolysis
- Delayed bone age
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteonecrosis / bone infarction
- Polygenic / multifactorial inheritance