Fanconi Anemia, Complementation group N

Alternative Names

  • FANCN
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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

610832

Gene Map Locus

16p12.2

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 of complementation group N (FANCN) is caused by compound heterozygous mutation in the PALB2 gene. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
610832.1LebanonFemaleYes Absent thumb; Absent radius; Chromosom...NM_024675.4:c.3350+4A>GHomozygousFarah et al. 2020
610832.2United Arab EmiratesFemaleNoYes Specific learning disability; Global dev...NM_024675.4:c.3350+4A>GHomozygousAutosomal, RecessiveSaleh et al. 2021
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