Details of Disease | DrugMAP

General Information of Disease (ID: DISHF4Z3)

Disease Name	Hypercholanemia, familial 1
Synonyms	hereditary hypercholanemia; FHCA1
Definition	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.
Disease Hierarchy	DIS3MHVP: Hypercholanemia, familial DISHF4Z3: Hypercholanemia, familial 1
Disease Identifiers	MONDO ID MONDO_0031446 UMLS CUI C5542604 OMIM ID 607748 MedGen ID 1781366 Orphanet ID 238475

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
BAAT	DERA3OF	Strong	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TJP2	OTQUY6BV	Limited	Unknown	[1]
BAAT	OTTMB3JY	Strong	Autosomal recessive	[1]
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References

1	Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 2003 May;34(1):91-6. doi: 10.1038/ng1147.