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nephronophthisis 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 11

MONDO:0013302

Also known as:NPHP11nephronophthisis type 11

Overview

A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.

GeneticsAutosomal recessive · TMEM67 (chr 8)

OnsetJUVENILE

ResearchLimited published research (9 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: Stage 5 chronic kidney disease, Liver scarring (fibrosis) (hepatic fibrosis), and Nephronophthisis; and sometimes findings: Strabismus, Anisocoria, Global developmental delay, and Nystagmus and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	5	Stage 5 chronic kidney disease, Tubular basement membrane disintegration, Nephronophthisis

Genetic Landscape

TMEM67 function has not been fully characterized.

Nephronophthisis 11 is associated with mutations in the TMEM67 gene on chromosome 8.

Diagnosis

Genetic testing for TMEM67 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 nephronophthisis 11.

9 publications have been identified in PubMed for nephronophthisis 11. Research spans Case Report / Case Series (56%), Epidemiology / Natural History (22%), and Review / Meta-Analysis (11%).

Recent Publications

Ichas M (2026). [PMID: 41856782](https://pubmed.ncbi.nlm.nih.gov/41856782/). *Pediatr Transplant*. [Case Report / Case Series]
Petzold F (2026). [PMID: 41343253](https://pubmed.ncbi.nlm.nih.gov/41343253/). *Clin J Am Soc Nephrol*. [Epidemiology / Natural History]
Demirtas İ (2025). [PMID: 41316455](https://pubmed.ncbi.nlm.nih.gov/41316455/). *J Med Case Rep*. [Case Report / Case Series]
Kuang K (2025). [PMID: 41393609](https://pubmed.ncbi.nlm.nih.gov/41393609/). *Cureus*. [Review / Meta-Analysis]
Nguyen UT (2025). [PMID: 40713318](https://pubmed.ncbi.nlm.nih.gov/40713318/). *J Natl Med Assoc*. [Case Report / Case Series]
Almohlesy LS (2024). [PMID: 39596574](https://pubmed.ncbi.nlm.nih.gov/39596574/). *Genes (Basel)*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613550

GARD

Genetic and Rare Diseases Info Center

GARD:18080

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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nephronophthisis 11

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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