Disease Information
| CUI | C0392514 |
|---|---|
| Disease Name | Hereditary hemochromatosis |
| Synonymous | HEMOCHROMATOSIS, HEREDITARY Hereditary haemochromatosis Familial hemochromatosis HEMOCHROMATOSIS, FAMILIAL Familial haemochromatosis Idiopathic hemochromatosis HEMOCHROMATOSIS, IDIOPATHIC Idiopathic haemochromatosis Primary hemochromatosis HEMOCHROMATOSIS, PRIMARY Primary haemochromatosis von Recklinghausen-Applebaum disease Hereditary hemochromatosis (disorder) Idiopathic hemochromatosis (disorder) Primary hemochromatosis (disorder) |
| Description | 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; an autosomal recessive disorder of metabolism associated with a gene tightly linked to the A locus of the HLA complex on chromosome 6. |
Gene Information
| CUI | Disease | Gene Symbol | Table Name |
|---|---|---|---|
| C0392514 | hereditary hemochromatosis | HFE | GAD |
| C0392514 | hereditary hemochromatosis in African Americans. | HFE | GAD |
| C0392514 | hereditary hemochromatosis. | HFE | GAD |
