Details of Disease | DrugMAP

General Information of Disease (ID: DISYYKA6)

Disease Name	Congenital bile acid synthesis defect 4
Synonyms	cholestasis, intrahepatic, with defective conversion of; Trihydroxycoprostanic acid to cholic acid; Trihydroxycoprostanic acid in bile; bile acid synthesis defect, congenital, 4; cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid; AMACR deficiency; trihydroxycoprostanic acid in bile; bile acid synthesis defect, congenital, type 4; congenital bile acid synthesis defect 4; CBAS4; 2-methylacyl-CoA racemase deficiency; intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid; congenital bile acid synthesis defect type 4; liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome; BAS defect type 4; BASD4; Alpha-methyl-acyl-CoA racemase deficiency
Definition	An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISMSQ7I: Alpha-methylacyl-CoA racemase deficiency DISTWFEZ: Congenital bile acid synthesis defect DISYYKA6: Congenital bile acid synthesis defect 4
Disease Identifiers	MONDO ID MONDO_0008967 MESH ID C535444 UMLS CUI C1858328 OMIM ID 214950 MedGen ID 388039 Orphanet ID 79095

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AMACR	TTLN1AP	Limited	GermlineCausalMutation	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AMACR	DEGKWJB	Supportive	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
AMACR	OTUU22PK	Supportive	Autosomal recessive	[1]
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References

1	Mechanisms of disease: Inborn errors of bile acid synthesis. Nat Clin Pract Gastroenterol Hepatol. 2008 Aug;5(8):456-68. doi: 10.1038/ncpgasthep1179. Epub 2008 Jun 24.