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nephronophthisis 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 2

MONDO:0011190

Also known as:INVS nephronophthisis (disease)NPH2NPHP2

Overview

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

GeneticsAutosomal recessive · INVS (chr 9)

OnsetCHILDHOOD

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 always present findings: Stage 5 chronic kidney disease; and common findings: Hypertension and Renal cortical microcysts. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	8	Chronic tubulointerstitial nephritis, Stage 5 chronic kidney disease, Absence of renal corticomedullary differentiation

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.

INVS encodes inversin (1,065 aa). Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Highest expression in Ovary (13.0 TPM) and Nerve Tibial (11.8 TPM).

Nephronophthisis 2 is caused by mutations in the INVS gene on chromosome 9.

INVS is classified as a druggable target with score 4.0.

Diagnosis

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

Biomarker and diagnostic research for nephronophthisis 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 common features.

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.

No clinical trials have been registered for nephronophthisis 2.

6 publications have been identified in PubMed for nephronophthisis 2. Research spans Basic Science / Preclinical (50%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Recent Publications

Du X (2026). [PMID: 41898549](https://pubmed.ncbi.nlm.nih.gov/41898549/). *Int J Mol Sci*. [Basic Science / Preclinical]
Derrick CJ (2026). [PMID: 42169231](https://pubmed.ncbi.nlm.nih.gov/42169231/). *Dev Dyn*. [Basic Science / Preclinical]
Roig J (2025). [PMID: 40189576](https://pubmed.ncbi.nlm.nih.gov/40189576/). *Cell Commun Signal*. [Review / Meta-Analysis]
Sawada Y (2025). [PMID: 40475304](https://pubmed.ncbi.nlm.nih.gov/40475304/). *Kidney Med*. [Case Report / Case Series]
Urlić I (2024). [PMID: 39596188](https://pubmed.ncbi.nlm.nih.gov/39596188/). *Int J Mol Sci*. [Diagnostic / Biomarker]
Beyrent E (2024). [PMID: 39110529](https://pubmed.ncbi.nlm.nih.gov/39110529/). *Mol Biol Cell*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 5:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602088

Orphanet

European rare disease database

Orphanet:93591

GARD

Genetic and Rare Diseases Info Center

GARD:18182

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 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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