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)

Also Known As:

Fanconi's Anemia; Anemia, Fanconi's; Fanconi Hypoplastic Anemia; Fanconi Pancytopenia; Fanconi Panmyelopathy; Anemias, Fanconi; Fanconi Anemias; Anemia, Fanconi

Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
  - Anemia: 38331
    - Aplastic Anemia: 6117
      - Congenital Hypoplastic Anemia: 45
        Fanconi Anemia: 1866
  - Bone Marrow Diseases: 135
    - Bone Marrow Failure Disorders: 1082
      - Congenital Bone Marrow Failure Syndromes: 107
        Congenital Hypoplastic Anemia: 45
        Fanconi Anemia: 1866
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Congenital Hypoplastic Anemia: 45
    - Fanconi Anemia: 1866
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - DNA Repair-Deficiency Disorders: 538
    - Fanconi Anemia: 1866

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