bile acid malabsorption, primary, 2
MONDO:0859180Mondo
Findings
No curated finding names bile acid malabsorption, primary, 2 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
12 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.
- Chronic diarrheaHPOHP:0002028
- 2 of 2 reported patients
- Copper accumulation in liverHPOHP:0025321
- 1 of 1 reported patient
- Decreased circulating chenodeoxycholic acid concentrationHPOHP:0034048
- 2 of 2 reported patients
- Decreased circulating vitamin D concentrationHPOHP:0100512
- 2 of 2 reported patients
- Decreased circulating vitamin E concentrationHPOHP:0100513
- 2 of 2 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 2 of 2 reported patients
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 2 of 2 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 2 of 2 reported patients
- Reduced circulating vitamin A concentrationHPOHP:0004905
- 2 of 2 reported patients
- SteatorrheaHPOHP:0002570
- 2 of 2 reported patients
- Periportal fibrosisHPOHP:0001405
- 1 of 2 reported patients
- Prolonged neonatal jaundiceHPOHP:0006579
- 1 of 2 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.
- SLC51BHGNC:29956
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of