H01278 | |
H number | H01278 |
Name | Iron-refractory iron deficiency anemia |
Description | Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disorder characterized by hypochromic microcytic anaemia, low transferrin saturation and high levels of the iron-regulated hormone hepcidin. The disease is caused by mutations in TMPRSS6, which encodes a type II transmembrane serine protease that regulates the expression of the hepcidin. |
Category | Hematologic disease |
Network | - |
Gene | TMPRSS6 [HSA:164656] [KO:K09637] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 3A00.Y ICD-10: D50.8 OMIM: 206200 |
Reference | PMID:18408718 AUTHORS Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD TITLE Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). JOURNAL Nat Genet 40:569-71 (2008) DOI:10.1038/ng.130 PMID:20704562 AUTHORS Altamura S, D'Alessio F, Selle B, Muckenthaler MU TITLE A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA. JOURNAL Biochem J 431:363-71 (2010) DOI:10.1042/BJ20100668 |