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cholestasis, progressive familial intrahepatic, 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cholestasis, progressive familial intrahepatic, 11

MONDO:0030815

Also known as:PFIC11

Overview

GeneticsAutosomal recessive · SEMA7A (chr 15)

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: Elevated circulating aspartate aminotransferase concentration, Increased serum bile acid concentration, and Elevated circulating alanine aminotransferase concentration. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	3	Elevated circulating aspartate aminotransferase concentration, Increased serum bile acid concentration, Elevated circulating alanine aminotransferase concentration

Genetic Landscape

SEMA7A function has not been fully characterized.

Cholestasis, progressive familial intrahepatic, 11 is associated with mutations in the SEMA7A gene on chromosome 15.

Diagnosis

Genetic testing for SEMA7A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features.

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 cholestasis, progressive familial intrahepatic, 11.

27 publications have been identified in PubMed for cholestasis, progressive familial intrahepatic, 11. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Patient case studies	9	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619874

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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Kisho

cholestasis, progressive familial intrahepatic, 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cholestasis, progressive familial intrahepatic, 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications