bile acid malabsorption, primary, 1
MONDO:0013214Mondo
Findings
No curated finding names bile acid malabsorption, primary, 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
4 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
- 1 of 1 reported patient · Neonatal onset
- Fat malabsorptionHPOHP:0002630
- 1 of 1 reported patient
- Increased fecal bile acidHPOHP:0034043
- 1 of 1 reported patient
- SteatorrheaHPOHP:0002570
- 1 of 1 reported patient · Neonatal onset
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.
- SLC10A2HGNC:10906
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: bile acid malabsorption, primary, 1
- Also called
- bile acid malabsorption, primary