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nephropathy, progressive tubulointerstitial, with cholestatic liver disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephropathy, progressive tubulointerstitial, with cholestatic liver disease

MONDO:0011199

Overview

GeneticsAutosomal recessive

ResearchLimited published research (4 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: Kidney disease (nephropathy), Abnormal tubulointerstitial morphology, Elevated circulating hepatic transaminase concentration, and Chronic kidney disease and 1 more.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	3	Kidney disease (nephropathy), Abnormal tubulointerstitial morphology, Chronic kidney disease

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 nephropathy, progressive tubulointerstitial, with cholestatic liver disease.

4 publications have been identified in PubMed for nephropathy, progressive tubulointerstitial, with cholestatic liver disease. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Graňák K (2025). [PMID: 39856791](https://pubmed.ncbi.nlm.nih.gov/39856791/). *J Med Case Rep*. [Case Report / Case Series]
Ghallab A (2025). [PMID: 40414504](https://pubmed.ncbi.nlm.nih.gov/40414504/). *J Hepatol*. [Review / Meta-Analysis]
Trauner M (2025). [PMID: 40601300](https://pubmed.ncbi.nlm.nih.gov/40601300/). *Hepatology*. [Review / Meta-Analysis]
Sharma N (2025). [PMID: 40330581](https://pubmed.ncbi.nlm.nih.gov/40330581/). *Case Rep Nephrol Dial*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602114

GARD

Genetic and Rare Diseases Info Center

GARD:15344

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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nephropathy, progressive tubulointerstitial, with cholestatic liver disease

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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