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nephronophthisis 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

nephronophthisis 12

MONDO:0013442

Also known as:NPHP12TTC21B nephronophthisis (disease)nephronophthisis (disease) caused by mutation in TTC21B

Overview

Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.

GeneticsAutosomal recessive, Autosomal dominant · TTC21B (chr 2)

ResearchLimited published research (4 articles)

Clinical Presentation

Features include: Stage 5 chronic kidney disease and Nephronophthisis.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	2	Stage 5 chronic kidney disease, Nephronophthisis

Explore clinical features

Genetic Landscape

TTC21B function has not been fully characterized.

Nephronophthisis 12 is caused by mutations in the TTC21B gene on chromosome 2.

Diagnosis

Genetic testing for TTC21B is available. Testing is considered confirmatory 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 12.

4 publications have been identified in PubMed for nephronophthisis 12. Research spans Epidemiology / Natural History (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Deng K (2025). [PMID: 41378128](https://pubmed.ncbi.nlm.nih.gov/41378128/). *Front Genet*. [Basic Science / Preclinical]
Chen Q (2025). [PMID: 41399018](https://pubmed.ncbi.nlm.nih.gov/41399018/). *Ren Fail*. [Epidemiology / Natural History]
Bartol-Puyal FA (2024). [PMID: 39602043](https://pubmed.ncbi.nlm.nih.gov/39602043/). *Doc Ophthalmol*. [Case Report / Case Series]
Daga A (2024). [PMID: 39574791](https://pubmed.ncbi.nlm.nih.gov/39574791/). *Kidney Med*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 9:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613820

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 12

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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