hypercholanemia, familial, 2
MONDO:0031003Mondo
Findings
No curated finding names hypercholanemia, familial, 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
5 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 vitamin D concentrationHPOHP:0100512
- 8 of 8 reported patients
- Increased serum bile acid concentrationHPOHP:0012202
- 10 of 10 reported patients
- Prolonged neonatal jaundiceHPOHP:0006579
- 2 of 2 reported patients
- OsteopeniaHPOHP:0000938
- 3 of 8 reported patients
- Unconjugated hyperbilirubinemiaHPOHP:0008282
- 0 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.
- SLC10A1HGNC:10905
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: hypercholanemia, familial, 2
- Also called
- FHCA2hypercholanemia, familial 2NTCP Deficiency