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hypercholanemia, familial 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypercholanemia, familial 1

MONDO:0031446

Also known as:hereditary hypercholanemiaFHCA1

Overview

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.

GeneticsAutosomal recessive · TJP2 (chr 9)

ResearchLimited published research (2 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: Fat malabsorption, Decreased circulating vitamin K concentration, Failure to thrive, and Steatorrhea and 3 more.

Organ System	Phenotype Count	Example Features
Digestive system	1	Fat malabsorption
Growth and development

Genetic Landscape

TJP2 function has not been fully characterized.

Hypercholanemia, familial 1 is associated with mutations in the TJP2 gene on chromosome 9.

Diagnosis

Genetic testing for TJP2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 1.

2 publications have been identified in PubMed for hypercholanemia, familial 1. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Xu Y (2025). [PMID: 38986003](https://pubmed.ncbi.nlm.nih.gov/38986003/). *Hepatology*. [Basic Science / Preclinical]
Pandey D (2024). [PMID: 39697951](https://pubmed.ncbi.nlm.nih.gov/39697951/). *Cureus*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 1:25 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607748

Orphanet

European rare disease database

Orphanet:238475

GARD

Genetic and Rare Diseases Info Center

GARD:17173

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 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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