Fanconi Anemia, Complementation Group I

Alternative Names

  • FANCI

Associated Genes

FANCI Gene
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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

609053

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q26.1

Description

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 I (FANCI) is caused by homozygous or compound heterozygous mutation in the FANCI gene  on chromosome 15q26. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
609053.1LebanonMaleYesYes Growth delay; Multiple cafe-au-lait spo...NM_001113378.2:c.2986C>AHomozygousAutosomal, RecessiveFarah et al. 2020
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