Details of Disease | DrugMAP

General Information of Disease (ID: DISON1SE)

Disease Name	Congenital bile acid synthesis defect 2
Synonyms	cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency; congenital bile acid synthesis defect, type 2; bile acid synthesis defect, congenital, 2; CBAS2; congenital bile acid synthesis defect caused by mutation in AKR1D1; BASD2; congenital bile acid synthesis defect type 2; bile acid synthesis defect, congenital, type 2; AKR1D1 congenital bile acid synthesis defect; cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Definition	Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins.
Disease Hierarchy	DISTWFEZ: Congenital bile acid synthesis defect DISON1SE: Congenital bile acid synthesis defect 2
Disease Identifiers	MONDO ID MONDO_0009339 MESH ID C535443 UMLS CUI C1856127 OMIM ID 235555 MedGen ID 383840 Orphanet ID 79303 SNOMED CT ID 238035000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AKR1D1	DEVON3M	Limited	Biomarker	[1]
AKR1D1	DEVON3M	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AKR1D1	OTBDJ6RL	Definitive	Autosomal recessive	[2]
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References

1	The aldo-keto reductases (AKRs): Overview.Chem Biol Interact. 2015 Jun 5;234:236-46. doi: 10.1016/j.cbi.2014.09.024. Epub 2014 Oct 7.
2	Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Gut. 2003 Oct;52(10):1494-9. doi: 10.1136/gut.52.10.1494.