Symptomatic form of hemochromatosis type 1
Name: |
Symptomatic form of hemochromatosis type 1
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Description: |
Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus. |
ORPHAcode: |
465508
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Synonyms: |
Symptomatic form of HFE-related hereditary hemochromatosis
Symptomatic form of classic hemochromatosis
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Analyte(s): | |
Created: |
09 May 2018 - 06:44
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Changed: |
02 Aug 2018 - 08:48
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