Fanconi anemia complementation group D1

Definition

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

Also known as FAD1, FANCD1, Fanconi anemia complementation group D1 — per MONDO

Also identified as

• DOID 0111089 per MONDO
• MESH C563980 per MONDO
• NCIT C125705 per MONDO
• OMIM 605724 per MONDO
• Orphanet 319462 per MONDO
• SCTID 766707003 per MONDO
• UMLS C1838457 per MONDO

Affected Organs