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nephronophthisis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis

MONDO:0019005

Also known as:medullary cystic diseasemedullary cystic kidneynephronophthisis (disease)

Find Clinical TrialsTrials

Overview

Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.

OnsetJUVENILE, CHILDHOOD, ADULT

Clinical Trials3 registered · 3 recruiting

Diagnosis

Biomarker and diagnostic research for nephronophthisis has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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.

3 clinical trials registered, 3 recruiting. Interventions under study include other interventions. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

96 publications have been identified in PubMed for nephronophthisis. Research spans Case Report / Case Series (39%), Basic Science / Preclinical (30%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Patient case studies	37	39%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 1:47 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:655

GARD

Genetic and Rare Diseases Info Center

GARD:206

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→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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nephronophthisis

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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