DeCS

Descriptor English:

Fanconi Anemia

Descriptor Spanish:

Anemia de Fanconi

Spanish from Spain

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):

Pancytopénie de Fanconi

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 sang
CF liquide cérébrospinal
CI induit chimiquement
CL classification
CO complications
DG imagerie diagnostique
DH diétothérapie
DI diagnostic
DT traitement médicamenteux
EC économie
EH ethnologie
EM embryologie
EN enzymologie
EP épidémiologie
ET étiologie
GE génétique
HI histoire
IM immunologie
ME métabolisme
MI microbiologie
MO mortalité
NU soins infirmiers
PA anatomopathologie
PC prévention et contrôle
PP physiopathologie
PS parasitologie
PX psychologie
RH rééducation et réadaptation
RT radiothérapie
SU chirurgie
TH thérapie
UR urine
VE médecine vétérinaire
VI virologie

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