{"id":26760,"date":"2024-04-20T20:18:51","date_gmt":"2024-04-20T18:18:51","guid":{"rendered":"https:\/\/www.krebs-praedisposition.de\/?post_type=kompendium&p=26760"},"modified":"2025-08-27T10:59:05","modified_gmt":"2025-08-27T08:59:05","slug":"fanconi-anemia","status":"publish","type":"kompendium","link":"https:\/\/www.krebs-praedisposition.de\/en\/kompendium\/fanconi-anemia\/","title":{"rendered":"Fanconi Anemia"},"content":{"rendered":"

Fanconi Anemia \u2013\u00a0Definition<\/h2><\/div>
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Fanconi anemia (FA) is predominantly a recessive chromosomal instability syndrome, characterized by congenital differences, progressive bone marrow failure, an elevated cancer risk, and endocrine variations. Currently, 22 FA genes (FANCA-W<\/em>) have been identified. The corresponding gene products interact within a complex signaling pathway responsible for repairing “DNA interstrand cross-links” (ICLs).<\/p>\n<\/div>

Synonym:<\/p>\n<\/div><\/div><\/div>

FA<\/p>\n<\/div><\/div><\/div><\/div>

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Gene:<\/p>\n<\/div><\/div><\/div>

22 known FA genes; FANCA<\/em> (60-70%), FANCC<\/em> and ANCG<\/em> (about ~10% each)<\/p>\n<\/div><\/div><\/div><\/div>

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Gen\u00ade products:<\/p>\n<\/div><\/div><\/div>

Repair proteins<\/p>\n<\/div><\/div><\/div><\/div>

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Function:<\/p>\n<\/div><\/div><\/div>

Repair of pathological DNA bridges between complementary DNA strands (inter-strand cross-links, ICL)<\/p>\n<\/div><\/div><\/div><\/div>

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Inheritance:<\/p>\n<\/div><\/div><\/div>

FANCB – <\/em>X-linked
\nFANCR<\/em> \u2013 autosomal dominant
\nall other subtypes \u2013 autosomal-recessive<\/p>\n<\/div><\/div><\/div><\/div>

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Prevalence:<\/p>\n<\/div><\/div><\/div>

1:200,000 – 400,000 (homozygous, 10x more common in individuals of Ashkenazi Jewish or African descent); 1: 300 (heterozygous)<\/p>\n<\/div><\/div><\/div><\/div>

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Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>

Patients with pathogenic variants in the signaling pathway of “late” FA genes (e.g. FANCD1<\/i>, FANCB<\/i>) have a higher cancer risk. Patients with pathogenic variants in “early” FA genes have a milder phenotype.<\/p>\n<\/div><\/div><\/div><\/div>

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Penetrance:<\/p>\n<\/div><\/div><\/div>

High, median age of diagnosis 6.5 years; 90% of FA patients are cytopenic at the age of 40 years<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>

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Overview of the Chapters on This Page:<\/h4><\/div><\/div><\/div>