congenital bile acid synthesis defect 3
Findings
No curated finding names congenital bile acid synthesis defect 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.
Definition from the Mondo Disease Ontology (MONDO:0013439), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
20 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.
- Acholic stoolsHPOHP:0011985
- 1 of 1 reported patient · Infantile onset
- Bile duct proliferationHPOHP:0001408
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- CirrhosisHPOHP:0001394
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Ductal bile plugsHPOHP:0034294
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
Show the remaining 8
- HyperbilirubinemiaHPOHP:0002904
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- JaundiceHPOHP:0000952
- 1 of 1 reported patient · Neonatal onset
- Frequent (30% to 79% of cases)
- Prolonged prothrombin timeHPOHP:0008151
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
- Abnormality of vitamin metabolismHPOHP:0100508
- Frequent (30% to 79% of cases)
- CholestasisHPOHP:0001396
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.
- CYP7B1HGNC:2652
- Strong · Ambry Genetics · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: congenital bile acid synthesis defect 3
- Also called
- BASD3bile acid synthesis defect, congenital, type 3CBAS3congenital bile acid synthesis defect caused by mutation in CYP7B1congenital bile acid synthesis defect type 3CYP7B1 congenital bile acid synthesis defectoxysterol 7-alpha-hydroxylase deficiency