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3 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Autosomal dominant macrothrombocytopenia
Legg-Calvé-Perthes disease

ACTN1 COL2A1
ITGA2B
ITGB3
TUBB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ITGA2B
(0.85)
COL2A1



Citations in the biomedical literature:


Autosomal dominant macrothrombocytopenia
ACTN1 ITGA2B ITGB3 TUBB1
Legg-Calvé-Perthes disease
COL2A1



Autosomal dominant macrothrombocytopenia
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 genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare bone disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
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

Legg-Calvé-Perthes disease

Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Articular / joint pain / arthralgia
- Cartilage destruction / chondrolysis
- Delayed bone age
- Joint / articular deformation
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Osteonecrosis / bone infarction
- Polygenic / multifactorial inheritance
- Short stature / dwarfism / nanism



Autosomal dominant macrothrombocytopenia

(no data available)