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Nutritional and Metabolic Diseases > Metabolic Diseases > DNA Repair-Deficiency Disorders > Fanconi Anemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Anemia, Hypoplastic, Congenital > Fanconi Anemia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Infant, Newborn, Diseases > Congenital Bone Marrow Failure Syndromes > Anemia, Hypoplastic, Congenital > Fanconi Anemia
... > Hemic and Lymphatic Diseases > Hematologic Diseases > Bone Marrow Diseases > Bone Marrow Failure Disorders > Congenital Bone Marrow Failure Syndromes > Anemia, Hypoplastic, Congenital > Fanconi Anemia
... > Hemic and Lymphatic Diseases > Hematologic Diseases > Anemia > Anemia, Aplastic > Anemia, Hypoplastic, Congenital > Fanconi Anemia
... > Hemic and Lymphatic Diseases > Hematologic Diseases > Bone Marrow Diseases > Bone Marrow Failure Disorders > Anemia, Aplastic > Anemia, Hypoplastic, Congenital > Fanconi Anemia

Terme préférentiel

Fanconi Anemia  

Type

  • mesh:Descriptor

Définition

  • 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)

Concept générique

Synonyme(s)

  • Anemia, Fanconi
  • Fanconi Hypoplastic Anemia
  • Fanconi Pancytopenia
  • Fanconi Panmyelopathy
  • Fanconi's Anemia

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-ZJKSQ7NS-2

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RDF/XML TURTLE JSON-LD Date de création 11/11/1974, dernière modification le 26/06/2019