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Descriptor English: Fanconi Anemia
Descriptor Spanish: Anemia de Fanconi
Descriptor anemia de Fanconi
Scope note: Anomalía congénita que afecta a los elementos de la médula ósea, con anemia, leucopenia y trombopenia, y malformaciones asociadas cardíacas, renales y de las extremidades, asi como alteraciones pigmentarias de la piel. En esta enfermedad es característica la ruptura cromosómica espontánea, con predisposición a la leucemia. Existen por lo menos 7 grupos complementarios en la anemia de Fanconi: FANCA, FANCB, FANCC, FANCD, FANCE, FANCF, FANCG. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM; 227650, April 23, 2001)
Descriptor Portuguese: Anemia de Fanconi
Descriptor French: Anémie de Fanconi
Entry term(s): Anemia, Fanconi
Anemia, Fanconi's
Anemias, Fanconi
Fanconi Anemias
Fanconi Hypoplastic Anemia
Fanconi Pancytopenia
Fanconi Panmyelopathy
Fanconi's Anemia
Tree number(s): C15.378.050.085.080.280
C15.378.190.223.500.500.280
C16.320.077.280
C18.452.284.280
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D005199
Scope note: 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)
Annotation: do not confuse with FANCONI SYNDROME, a dysfunction of proximal renal tubules
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 2002; see FANCONI'S ANEMIA 1991-2001; was see under ANEMIA, APLASTIC 1975-1990
History Note: 2002(1975); was see under ANEMIA, APLASTIC 1975-1990
DeCS ID: 5303
Unique ID: D005199
NLM Classification: WH 175
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1991/01/01
Date of Entry: 1974/11/11
Revision Date: 2013/07/08
Fanconi Anemia - Preferred
Concept UI M0008227
Scope note 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)
Preferred term Fanconi Anemia
Entry term(s) Anemia, Fanconi
Anemia, Fanconi's
Anemias, Fanconi
Fanconi Anemias
Fanconi Hypoplastic Anemia
Fanconi Pancytopenia
Fanconi Panmyelopathy
Fanconi's Anemia



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