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hypercholanemia, familial, 2 (FHCA2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypercholanemia, familial, 2

MONDO:0031003

Also known as:FHCA2NTCP Deficiencyhypercholanemia, familial 2

Overview

GeneticsAutosomal recessive · SLC10A1 (chr 14)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased circulating vitamin D concentration, Increased serum bile acid concentration, and Prolonged neonatal jaundice; and common findings: Mild bone density loss (osteopenia). 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	2	High bilirubin levels (unconjugated hyperbilirubinemia), Increased serum bile acid concentration

Genetic Landscape

SLC10A1 function has not been fully characterized.

Hypercholanemia, familial, 2 is associated with mutations in the SLC10A1 gene on chromosome 14.

Diagnosis

Genetic testing for SLC10A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypercholanemia, familial, 2.

6 publications have been identified in PubMed for hypercholanemia, familial, 2. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (33%), and Review / Meta-Analysis (17%).

Recent Publications

Gao F (2026). [PMID: 42051946](https://pubmed.ncbi.nlm.nih.gov/42051946/). *Front Pediatr*. [Epidemiology / Natural History]
Ghallab A (2025). [PMID: 40414504](https://pubmed.ncbi.nlm.nih.gov/40414504/). *J Hepatol*. [Review / Meta-Analysis]
Ma RX (2025). [PMID: 41401959](https://pubmed.ncbi.nlm.nih.gov/41401959/). *Zhongguo Dang Dai Er Ke Za Zhi*. [Case Report / Case Series]
Yang F (2025). [PMID: 39947258](https://pubmed.ncbi.nlm.nih.gov/39947258/). *Toxicol Appl Pharmacol*. [Basic Science / Preclinical]
Dong C (2025). [PMID: 39960943](https://pubmed.ncbi.nlm.nih.gov/39960943/). *Medicine (Baltimore)*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619256

GARD

Genetic and Rare Diseases Info Center

GARD:18341

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hypercholanemia, familial, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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