congenital bile acid synthesis defect 2

Summary
Synonym
  • CBAS2
  • cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Definition
A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33.
Super Class
congenital bile acid synthesis defect
External Links
Disease Ontology
DOID:0111069
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6718 AKR1D1 aldo-keto reductase family 1 member D1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
851974 YPR1 trifunctional aldehyde reductase/carbonyl reductase (NADPH)/glucose 1-dehydrogenase (NADP(+)) YPR1
854287 GCY1 glycerol 2-dehydrogenase (NADP(+)) GCY1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 29 in total
HPO ID HPO Term
HP:0003256 Abnormality of the coagulation cascade
HP:0002240 Hepatomegaly
HP:0200084 Giant cell hepatitis
HP:0001397 Hepatic steatosis
HP:0008897 Postnatal growth retardation
HP:0002904 Hyperbilirubinemia
HP:0000952 Jaundice
HP:0006579 Prolonged neonatal jaundice
HP:0002630 Fat malabsorption
HP:0012379 Abnormal circulating enzyme concentration or activity
Displaying 1 entry
Gene ID Gene Symbol Description
6718 AKR1D1 aldo-keto reductase family 1 member D1

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024