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

COL9A1 COMP
COL9A2
COL9A3


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Multiple epiphyseal dysplasia due to collagen 9 anomaly
COL9A1 COL9A2 COL9A3
Multiple epiphyseal dysplasia type 1
COMP



Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia type 1

Synonym(s):
(no synonyms)

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

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535501


COMMON
SIGNS
- Abnormal gait
- Articular / joint pain / arthralgia
- Autosomal dominant inheritance
- Epiphyseal anomaly
- Genu valgum
- Genu varum
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Joint / articular deformation
- Osteoarthritis
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism


Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia type 1

(no more signs)

Frequent
- Short hand / brachydactyly