hypercholanemia, familial 1
MONDO:0031446Mondo
Findings
No curated finding names hypercholanemia, familial 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.
Definition from the Mondo Disease Ontology (MONDO:0031446), read 2026-09-29. CC BY 4.0.
Genes
3 genes
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 · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Laboratory for Molecular Medicine · Unknown · 2020
- EPHX1HGNC:3401
- Supportive · Orphanet · Autosomal recessive · 2021
- TJP2HGNC:11828
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: hypercholanemia, familial 1
- Also called
- FHCA1