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ADIPOQ
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- Entity Type
- Diseases
- Relation Groups
- 1
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- 8
Basic Information
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Core Information
- Disease Name
- Hemochromatosis
- Standard Disease Name
- hemochromatosis
- MeSH Tree
- No data
- ICD-10
- E83.11|E83.110|E83.119
Identifiers
- DO ID
- No data
- MeSH ID
- D006432
- OMIM ID
- No data
- UMLS ID
- C0018995
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_NCI-GLOSS_1602D:A condition in which the body takes up and stores more iron than it needs. The extra iron is stored in the liver, heart, and pancreas, which may cause liver disease, heart problems, organ failure, and cancer. It may also cause bronze skin, diabetes, pain in the joints and abdomen, tiredness, and impotence. Hemochromatosis may be inherited, or it may be caused by blood transfusions.|NCI2016_02D:An inherited metabolic disorder characterized by iron accumulation in the tissues.|MSH2017_2016_08_12:A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)|MEDLINEPLUS_20151021:<p>Hemochromatosis is a disease in which too much <a href='https://www.nlm.nih.gov/medlineplus/iron.html'>iron</a> builds up in your body. Your body needs iron but too much of it is toxic. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart, and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail.</p> <p>There are two types of hemochromatosis. Primary hemochromatosis is an inherited disease. Secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions.</p> <p>Many symptoms of hemochromatosis are similar to those of other diseases. Not everyone has symptoms. If you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain.</p> <p>Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. Treatments include removing blood (and iron) from your body, medicines, and changes in your diet.</p> <p >NIH: National Heart, Lung, and Blood Institute</p>|CSP2006:condition in which there is a deviation or interruption in the storage of iron in the body.|AIR93: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.
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