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Brachydactyly type A2
1 OMIM reference -
3 associated genes
6 signs/symptoms
PROTEIN INTERACTIONS: 1
Legg-Calvé-Perthes disease
1 OMIM reference -
1 associated gene
9 signs/symptoms
Brachydactyly type A2
Legg-Calvé-Perthes disease

BMP2
(UniProt - OMIM)
 COL2A1
(UniProt - OMIM)
BMPR1B
(UniProt - OMIM)
GDF5
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
BMP2
(0.79)
COL2A1


Citations in the biomedical literature:


Brachydactyly type A2
BMP2 BMPR1B GDF5
Legg-Calvé-Perthes disease
COL2A1



Brachydactyly type A2
Legg-Calvé-Perthes disease

Synonym(s):
- Brachydactyly, Mohr-Wriedt type
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: <1 / 1 000 000
Average age onset: neonatal/infancy
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:
1 OMIM reference -
1 MeSH reference: C537089
External references:
1 OMIM reference -
No MeSH references
Brachydactyly type A2
Legg-Calvé-Perthes disease

Very frequent
- Autosomal dominant inheritance
- Short hand / brachydactyly

Frequent
- Clinodactyly of fifth finger
- Short foot / brachydactyly of toes

Occasional
- Metacarpal anomalies / Archibald's sign
- Terminal / third phalangeal bone of fingers hypoplasia


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