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Terminal osseous dysplasia - pigmentary defects
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
1 OMIM reference -
1 associated gene
No signs/symptoms info
Terminal osseous dysplasia - pigmentary defects
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

FLNA
(UniProt - OMIM)
 BRCA2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FLNA
(0.79)
BRCA2


Citations in the biomedical literature:


Terminal osseous dysplasia - pigmentary defects
FLNA
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
BRCA2



Terminal osseous dysplasia - pigmentary defects
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.