Fanconi anemia

Also known as: Fanconi pancytopenia

Inherited bone marrow failure with congenital anomalies and cancer predisposition due to defective DNA interstrand crosslink repair.

Medical specialty: Hematology
Subspecialty: Hematology / Bone marrow failure
Sex & age distribution: Male: affected; Female: affected equally, X-linked FANCB affects males; Children: yes, median onset about 7 years
Gene(s) involved: BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2

Etiology & mechanism

Fanconi anemia/BRCA DNA repair pathway defects cause chromosomal fragility.

Gene(s) involved (21)

BRCA2BRIP1ERCC4FANCAFANCBFANCCFANCD2FANCEFANCFFANCGFANCIFANCLFANCMMAD2L2PALB2RAD51RAD51CRFWD3SLX4UBE2TXRCC2

Symptoms & signs (10)

absent or hypoplastic thumbsacute myeloid leukemiacafé-au-lait maculesmicrocephalypancytopeniaprogressive bone marrow failureradial ray defectsrenal anomaliesshort staturesquamous cell carcinoma

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