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congenital bile acid synthesis defect 5

Summary

Synonym

CBAS5

Definition

A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.

Super Class

congenital bile acid synthesis defect

External Links

Disease Ontology

DOID:0111066

Mondo Disease Ontology

MONDO:0014564

OMIM

616278

MGI genotype (from TogoID)

5695549

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
5825	ABCD3	ATP binding cassette subfamily D member 3	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
19299	Abcd3	ATP-binding cassette, sub-family D member 3	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
25270	Abcd3	ATP binding cassette subfamily D member 3	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
855956	PXA1	ATP-binding cassette long-chain fatty acid transporter PXA1	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 15 in total

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HPO ID	HPO Term
HP:0002240	Hepatomegaly
HP:0001399	Hepatic failure
HP:0003645	Prolonged partial thromboplastin time
HP:0000952	Jaundice
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0006580	Portal fibrosis
HP:0001744	Splenomegaly
HP:0000007	Autosomal recessive inheritance
HP:0002904	Hyperbilirubinemia
HP:0003676	Progressive