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Fanconiho anémia

  1. Record numberd005199
    Date06.06.2025
    TypeM - MESH
    Topical termFanconiho anémia
    Other termEnglish (Pseudonym) Anemia, Fanconi
    Slovak (Pseudonym) Fanconiho málokrvnosť
    Slovak (Pseudonym) Fanconiho hypoplastická anémia
    Slovak (Pseudonym) Fanconiho pancytopénia
    Slovak (Pseudonym) Fanconiho panmyelopatia
    UDCC15.378.050.085.080.280C15.378.190.223.500.500.280C16.320.077.280C18.452.284.280
    NoteCongenital 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)
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Number of the records: 1  

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