Fanconi Anemia
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
Year introduced: 2002(1975)
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Subheadings:
Tree Number(s): C15.378.050.085.080.280, C15.378.190.223.500.500.280, C16.320.077.280, C18.452.284.280
MeSH Unique ID: D005199
Entry Terms:
- Anemias, Fanconi
- Fanconi Anemias
- Anemia, Fanconi
- Fanconi's Anemia
- Anemia, Fanconi's
- Fanconi Hypoplastic Anemia
- Fanconi Pancytopenia
- Fanconi Panmyelopathy