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

Rare Disease

nephronophthisis-like nephropathy 2

MONDO:0859175

Overview

GeneticsAutosomal recessive · SLC41A1 (chr 1)

OnsetJUVENILE

ResearchLimited published research (3 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: Periglomerular fibrosis, Pulmonary infiltrates, Stage 5 chronic kidney disease, and Cough and others; and common findings: Bronchiectasis and Reduced kidney function (renal insufficiency).

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	4	Stage 5 chronic kidney disease, Reduced kidney function (renal insufficiency), Tubular luminal dilatation

Genetic Landscape

SLC41A1 function has not been fully characterized.

Nephronophthisis-like nephropathy 2 is associated with mutations in the SLC41A1 gene on chromosome 1.

Diagnosis

Genetic testing for SLC41A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 10 always present features, 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-like nephropathy 2.

3 publications have been identified in PubMed for nephronophthisis-like nephropathy 2. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Du X (2026). [PMID: 41898549](https://pubmed.ncbi.nlm.nih.gov/41898549/). *Int J Mol Sci*. [Basic Science / Preclinical]
Sawada Y (2025). [PMID: 40475304](https://pubmed.ncbi.nlm.nih.gov/40475304/). *Kidney Med*. [Case Report / Case Series]
Zhen Z (2024). [PMID: 39363162](https://pubmed.ncbi.nlm.nih.gov/39363162/). *BMC Pediatr*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619468

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-like nephropathy 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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