congenital bile acid synthesis defect 4
Findings
No curated finding names congenital bile acid synthesis defect 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
Definition from the Mondo Disease Ontology (MONDO:0008967), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
35 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.
- Decreased circulating calcifediol concentrationHPOHP:0012053
- 1 of 1 reported patient
- Decreased circulating vitamin E concentrationHPOHP:0100513
- 1 of 1 reported patient
- Decreased serum bile acid concentrationHPOHP:0030985
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Giant cell hepatitisHPOHP:0200084
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- HematocheziaHPOHP:0002573
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
Show the remaining 23
- Pigmentary retinopathyHPOHP:0000580
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Sensorimotor neuropathyHPOHP:0007141
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
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.
- AMACRHGNC:451
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: congenital bile acid synthesis defect 4
- Also called
- 2-methylacyl-CoA racemase deficiencyAlpha-methyl-acyl-CoA racemase deficiencyBAS defect type 4BASD4bile acid synthesis defect, congenital, type 4CBAS4congenital bile acid synthesis defect type 4liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome