congenital bile acid synthesis defect 3

Summary
Synonym
  • CBAS3
  • oxysterol 7-alpha-hydroxylase deficiency
Definition
A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12.
Super Class
congenital bile acid synthesis defect
External Links
Disease Ontology
DOID:0111070
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1581 CYP7A1 cytochrome P450 family 7 subfamily A member 1
9420 CYP7B1 cytochrome P450 family 7 subfamily B member 1
The Human Phenotype Ontology
Displaying entries 21 - 23 of 23 in total
HPO ID HPO Term
HP:0001508 Failure to thrive
HP:0003623 Neonatal onset
HP:0002570 Steatorrhea
Displaying 1 entry
Gene ID Gene Symbol Description
9420 CYP7B1 cytochrome P450 family 7 subfamily B member 1

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024