Fanconi Anemia, Complementation Group D1

Alternative Names

  • FANCD1
  • FAD1

Associated Genes

BRCA2 Gene
Back to search Result
WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Aplastic and other anaemias

OMIM Number


Mode of Inheritance

Autosomal recesisve

Gene Map Locus



Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. 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. Fanconi anemia complementation group D1 can be caused by homozygous or compound heterozygous mutation in the BRCA2 gene. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
605724.1LebanonFemaleYes Pancytopenia; Hypothyroidism; Intellec...NM_000059.4:c.7625C>THomozygousAutosomal, RecessiveFarah et al. 2020
© CAGS 2024. All rights reserved.