Orphanet: Familial hypercholanemia

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Familial hypercholanemia

Disease definition

Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.


Classification level: Disorder
  • Synonym(s):
    • Hereditary hypercholanemia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 607748
  • UMLS: C1843139
  • MeSH: -
  • GARD: -
  • MedDRA: -
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