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nephronophthisis 16 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 16

MONDO:0014158

Also known as:ANKS6 nephronophthisis (disease)NPHP16nephronophthisis (disease) caused by mutation in ANKS6

Overview

Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene.

GeneticsAutosomal recessive · ANKS6 (chr 9)

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: Reduced kidney function (renal insufficiency) and Polycystic kidney dysplasia; and very common findings: Stage 5 chronic kidney disease. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	5	Stage 5 chronic kidney disease, Reduced kidney function (renal insufficiency), Nephronophthisis

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.

ANKS6 encodes ankyrin repeat and sterile alpha motif domain containing 6 (871 aa). Required for renal function Highest expression in Brain Cerebellum (51.5 TPM) and Brain Cerebellar Hemisphere (46.8 TPM).

Nephronophthisis 16 is caused by mutations in the ANKS6 gene on chromosome 9.

ANKS6 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ANKS6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for nephronophthisis 16 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 2 common 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 16.

13 publications have been identified in PubMed for nephronophthisis 16. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (23%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Patient case studies	5	38%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 7:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615382

GARD

Genetic and Rare Diseases Info Center

GARD:18183

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 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

nephronophthisis 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications