congenital bile acid synthesis defect 5
Findings
No curated finding names congenital bile acid synthesis defect 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014564), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 1 reported patient
- Hepatic failureHPOHP:0001399
- 1 of 1 reported patient
- Hepatic fibrosisHPOHP:0001395
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HyperbilirubinemiaHPOHP:0002904
- 1 of 1 reported patient
- Increased serum bile acid concentrationHPOHP:0012202
- 1 of 1 reported patient
- Increased total iron binding capacityHPO
Show the remaining 1
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ABCD3HGNC:67
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · ClinGen · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
Other names
5 names
Resolves to: congenital bile acid synthesis defect 5
- Also called
- ABCD3 congenital bile acid synthesis defectbile acid synthesis defect, congenital, type 5CBAS5congenital bile acid synthesis defect caused by mutation in ABCD3congenital bile acid synthesis defect type 5