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nephronophthisis 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 7

MONDO:0012680

Also known as:GLIS2 nephronophthisis (disease)NPHP7nephronophthisis (disease) caused by mutation in GLIS2

Overview

Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.

GeneticsAutosomal recessive · GLIS2 (chr 16)

ResearchLimited published research (6 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: Stage 5 chronic kidney disease, Nephronophthisis, and Renal tubular atrophy.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	3	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GLIS2 encodes GLIS family zinc finger 2 (524 aa). Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway. Highest expression in Artery Aorta (80.9 TPM) and Artery Coronary (65.2 TPM).

Nephronophthisis 7 has been associated with mutations in the GLIS2 gene on chromosome 16.

GLIS2 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for GLIS2 is available. Testing is considered supportive for diagnosis.

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 7.

6 publications have been identified in PubMed for nephronophthisis 7. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Ercoskun P (2025). [PMID: 39731278](https://pubmed.ncbi.nlm.nih.gov/39731278/). *Clin Genet*. [Epidemiology / Natural History]
Sawada Y (2025). [PMID: 40475304](https://pubmed.ncbi.nlm.nih.gov/40475304/). *Kidney Med*. [Case Report / Case Series]
Leib L (2025). [PMID: 39753783](https://pubmed.ncbi.nlm.nih.gov/39753783/). *EMBO Rep*. [Basic Science / Preclinical]
Ebert LK (2025). [PMID: 40713016](https://pubmed.ncbi.nlm.nih.gov/40713016/). *Am J Physiol Renal Physiol*. [Basic Science / Preclinical]
Miri Karam Z (2024). [PMID: 38895833](https://pubmed.ncbi.nlm.nih.gov/38895833/). *J Clin Lab Anal*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611498

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 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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