Fanconi anemia

Summary
Synonym
  • Fanconi anaemia
  • Fanconi pancytopenia
  • Fanconi panmyelopathy
  • Fanconi's anaemia
  • Fanconi's anemia
Definition
A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
Super Class
congenital hypoplastic anemia
Disease Ontology
DOID:13636
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
675 BRCA2 BRCA2 DNA repair associated
2177 FANCD2 FA complementation group D2
2189 FANCG FA complementation group G
2323 FLT3LG fms related receptor tyrosine kinase 3 ligand
3458 IFNG interferon gamma
3586 IL10 interleukin 10
5551 PRF1 perforin 1
5889 RAD51C RAD51 paralog C
7124 TNF tumor necrosis factor
57697 FANCM FA complementation group M
Displaying all 6 entries
Gene ID Gene Symbol Description Source
14087 Fanca Fanconi anemia, complementation group A
14256 Flt3l FMS-like tyrosine kinase 3 ligand
15978 Ifng interferon gamma
16153 Il10 interleukin 10
18646 Prf1 perforin 1 (pore forming protein)
21926 Tnf tumor necrosis factor
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24835 Tnf tumor necrosis factor
25325 Il10 interleukin 10
25712 Ifng interferon gamma

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Last updated: December 9, 2024