Disease Information
| CUI | C0018995 |
|---|---|
| Disease Name | Hemochromatosis |
| Synonymous | Hemochromatoses Hemochromatosis, NOS Haemochromatosis Diabetes, Bronze Bronze diabetes diabetes bronze Bronzed diabetes TROISIER-HANOT-CHAUFFARD SYNDROME Iron storage disease Iron storage disease, NOS von Recklinghausen-Appelbaum disease iron storage disorder iron accumulation disorders Bronze diabetes (disorder) Hemochromatosis (disorder) |
| Description | WHAT: Hemochromatosis: Hemochromatosis: a disorder of iron metabolism characterized by excess deposition of iron in the tissues, especially the liver. It is characterized by pigmentation of the skin, hepatic cirrhosis, decreased carbohydrate tolerance, cardiomyopathy and endocrinopathy (especially hypogonadism). Mainly seen in men over the age of 40 years. It has an associated arthropathy distinguished by involvement of the metacarpophalangeal joints (particularly the second and third), wrists, knees, shoulders, and hips. There is often an associated chondrocalcinosis. WHY: Hemochromatosis is an autosomal recessive disease that produces an arthritis similar to osteoarthritis or pseudogout. HOW: Hemochromatosis is diagnosed by the typical physical and radiographic findings supported by elevated serum iron concentrations and high transferrin saturations. Serum ferritin is also markedly elevated. Confirmation of the diagnosis can be done by demonstrating hepatic iron deposition on liver biopsy. A disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary. Full development of the disease in women is restricted by menstruation, pregnancy, and lower dietary intake of iron. Acquired hemochromatosis may be the result of blood transfusions, excessive dietary iron, or secondary to other disease. Idiopathic or genetic hemochromatosis is an autosomal recessive disorder of metabolism associated with a gene tightly linked to the A locus of the HLA complex on chromosome 6. (From Dorland, 27th ed) condition in which there is a deviation or interruption in the storage of iron in the body. |
Gene Information
| CUI | Disease | Gene Symbol | Table Name |
|---|---|---|---|
| C0018995 | Hemochromatosis (3) | HFE | MorbidMap |
| C0018995 | HEMOCHROMATOSIS; HFE | HFE | OMIM2Gene |
| C0018995 | hemochromatosis | HFE | GAD |
| C0018995 | hemochromatosis | HFE | GAD |
| C0018995 | hemochromatosis | HFE | GAD |
| C0018995 | hemochromatosis | HFE | GAD |
| C0018995 | hemochromatosis | HFE | GAD |
| C0018995 | hemochromatosis | HFE | GAD |
| C0018995 | hemochromatosis | HFE | GAD |
| C0018995 | hemochromatosis | HFE | GAD |
| C0018995 | hemochromatosis | HFE | GAD |
| C0018995 | hemochromatosis | HFE | GAD |
| C0018995 | hemochromatosis | HFE | GAD |
| C0018995 | haemochromatosis | HFE | GAD |
| C0018995 | hemochromatosis | HFE | GAD |
| C0018995 | Hemochromatosis | HFE | GAD |
| C0018995 | Hemochromatosis | HFE | GAD |
| C0018995 | haemochromatosis | HFE | GAD |
