Name: Fanconi anemia, complementation group G | Acronym: FANCG
Alt. names:

Gene: FANCG | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1998

Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza

OMIM: 614082

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).[OMIM]

Specific treatments can help manifestations (eg, oral androgens for blood counts; G-CSF for neutrophil count); HSCT can be curative, but solid tumor risk may remain; Surveillance for complications such as bone marrow failure is recommended. Individuals with FA may manifest a variety of congenital malformations, and awareness may allow prompt detection and management. Refs. PMIDs: 9806548; 20301575