Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations |
Terminal osseous dysplasia - pigmentary defects |
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INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
BRCA2
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| FLNA
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Citations in the biomedical literature:
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations |
Terminal osseous dysplasia - pigmentary defects |
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Classification (Orphanet): - Rare genetic disease - Rare oncologic disease - Rare renal disease
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Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease
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Classification (ICD10): (no data available)
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Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -
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Epidemiological data: (no data available)
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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
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External references: 1 OMIM reference -
No MeSH references | |
External references: 1 OMIM reference - No MeSH references
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No signs/symptoms info available.