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Symptomatic form of hemochromatosis type 1

Disease definition

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.

ORPHA:465508

  • Synonym(s):
    • Symptomatic form of HFE-related hereditary hemochromatosis
    • Symptomatic form of classic hemochromatosis
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Adult
  • ICD-10: E83.1
  • OMIM: 235200
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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