Iron overload disorder | |
ICD-10 | R79.0 |
---|---|
ICD-9 | 790.6 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
In medicine, iron overload disorders are diseases caused by the accumulation of iron in the body. Organs commonly affected are the liver, heart and endocrine glands.[1]
The causes can be distinguished between primary (generally genetic) and secondary (due to other conditions).[2]
Description | OMIM | Mutation |
Haemochromatosis type 1: "classical"-haemochromatosis | 235200 | HFE |
Haemochromatosis type 2A: juvenile haemochromatosis | 602390 | hemojuvelin ("HJV", also known as HFE2) |
Haemochromatosis type 2B: juvenile haemochromatosis | 606464 | hepcidin antimicrobial peptide (HAMP) or HFE2B |
Haemochromatosis type 3 | 604720 | transferrin receptor-2 (TFR2 or HFE3) |
Haemochromatosis type 4 | 604653 | ferroportin (SLC11A3) |
Neonatal haemochromatosis | 231100 | (unknown) |
Aceruloplasminaemia (rare disease) | 604290 | ceruloplasmin |
Congenital atransferrinaemia (rare disease) | 209300 | transferrin |
The part-genetic, part-environmental syndrome known as African iron overload in sub-Sahara Africa (Online Mendelian Inheritance in Man (OMIM) 601195)