Diseases

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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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)

MeSH Record

Classification

Broader headings

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MeSH Record

Synonyms

8 entry terms
  • Anemia, Fanconi
  • Fanconi Hypoplastic Anemia
  • Fanconi Pancytopenia
  • Fanconi Panmyelopathy
  • Fanconi's Anemia
  • Anemia, Fanconi's
  • Anemias, Fanconi
  • Fanconi Anemias

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

do not confuse with FANCONI SYNDROME, a dysfunction of proximal renal tubules

MeSH Record

History Note

2002(1975); was see under ANEMIA, APLASTIC 1975-1990

MeSH Hierarchy

Tree Numbers

  1. C15.378w.050w.085w.080w.280w
  2. C15.378w.190.223w.500.500w.280w
  3. C16w.320w.077w.280w
  4. C18.452w.284w.280w

MeSH Record

NLM Classification

WH 175

AMA Style

References

  1. National Library of Medicine. Fanconi Anemia. Medical Subject Headings (MeSH). 2026. Unique ID D005199. http://id.nlm.nih.gov/mesh/2026/D005199
  2. Fanconi Anemia. In: Wikipedia. https://en.wikipedia.org/wiki/Fanconi_anemia
  3. Fanconi Anemia. In: Wikidata. https://www.wikidata.org/wiki/Q845779