Hypercholanemia, familial 1
MONDO:0031446A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.
Also known as: hereditary hypercholanemia, FHCA1
1 clinical trial for this condition and its sub-types.
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Disease
(680)
Metabolic disease
(233)
Inherited lipid metabolism disorder
(189)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Disease of genetic or genomic mechanism
(2)
Inborn disorder of bile acid synthesis
(2)
Steroid metabolism disease
(1)
Disease by developmental or physiological process
(0)