Fanconi Anemia [Fanconiho anemie]

topical
46
Terms

Fanconiho anémie
Fanconiho pancytopenie
panmyelopatie Fanconiho typu

 

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

Persistent link   https://www.medvik.cz/link/D005199
Definition

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
DUI
D005199 MeSH Browser
CUI
M0008227
History note
2002(1975); was see under ANEMIA, APLASTIC 1975-1990
Public note
2002; see FANCONI'S ANEMIA 1991-2001; was see under ANEMIA, APLASTIC 1975-1990

C Diseases
C15.378.050 Anemia 1 245
C15.378.050.085 Anemia, Aplastic 205
C15.378.050.085.080 Anemia, Hypoplastic, Congenital 3
C15.378.050.085.080.090 Anemia, Diamond-Blackfan 42
C15.378.050.085.080.280 Fanconi Anemia 46
C15.378.190 Bone Marrow Diseases 187
C15.378.190.223.500.500 Anemia, Hypoplastic, Congenital 3
C15.378.190.223.500.500.090 Anemia, Diamond-Blackfan 42
C15.378.190.223.500.500.280 Fanconi Anemia 46
C16.320.077.090 Anemia, Diamond-Blackfan 42
C16.320.077.280 Fanconi Anemia 46
C18.452 Metabolic Diseases 1 196
C18.452.284.060 Ataxia Telangiectasia 47
C18.452.284.100 Bloom Syndrome 11
C18.452.284.250 Cockayne Syndrome 4
C18.452.284.280 Fanconi Anemia 46
C18.452.284.520 Li-Fraumeni Syndrome 39
C18.452.284.600 Nijmegen Breakage Syndrome 21
C18.452.284.760 Rothmund-Thomson Syndrome 7
C18.452.284.960 Werner Syndrome 14
C18.452.284.975 Xeroderma Pigmentosum 25

Estren-Dameshek Variant of Fanconi Anemia Disease MeSH Browser

Estren-Dameshek Variant of Fanconi Pancytopenia Disease MeSH Browser

Fanconi Anemia, Complementation Group B Disease MeSH Browser

Fanconi Anemia, Complementation Group D1 Disease MeSH Browser

Fanconi Anemia, Complementation Group I Disease MeSH Browser

Fanconi Anemia, Complementation Group J Disease MeSH Browser

Fanconi Anemia, Complementation Group N Disease MeSH Browser

Milner Khallouf Gibson syndrome Disease MeSH Browser