Details of Disease | DrugMAP

General Information of Disease (ID: DIS8AK5G)

Disease Name	Hypercholanemia, familial, 2
Synonyms	FHCA2; NTCP Deficiency; hypercholanemia, familial 2
Disease Hierarchy	DIS3MHVP: Hypercholanemia, familial DIS8AK5G: Hypercholanemia, familial, 2
Disease Identifiers	MONDO ID MONDO_0031003 UMLS CUI C5543243 OMIM ID 619256 MedGen ID 1780531

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC10A1	DT56EKP	Limited	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC10A1	OTUJVMCL	Limited	Autosomal recessive	[1]
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References

1	Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype. Hepatology. 2015 Jan;61(1):260-7. doi: 10.1002/hep.27240. Epub 2014 Aug 25.