bile acid conjugation defect 1
MONDO:0030991Mondo
Findings
No curated finding names bile acid conjugation defect 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
7 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.
- JaundiceHPOHP:0000952
- 7 of 7 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 3 of 7 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 3 of 7 reported patients
- RicketsHPOHP:0002748
- 2 of 7 reported patients
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 1 of 7 reported patients
- Hepatic failureHPOHP:0001399
- 1 of 7 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 7 reported patients
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.
- BAATHGNC:932
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
1 name
Resolves to: bile acid conjugation defect 1
- Also called
- BACD1