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hypophosphatemic nephrolithiasis/osteoporosis 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypophosphatemic nephrolithiasis/osteoporosis 1

MONDO:0012850

Also known as:hypophosphatemic nephrolithiasis/osteoporosis type 1nephrolithiasis/osteoporosis, hypophosphatemic, type 1NPHLOP1

Overview

GeneticsAutosomal dominant · SLC34A1 (chr 5)

ResearchLimited published research (1 article)

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: Weak and brittle bones (osteoporosis), Mild bone density loss (osteopenia), Renal phosphate wasting, and Hypercalciuria and 4 more.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Weak and brittle bones (osteoporosis), Mild bone density loss (osteopenia), Increased susceptibility to fractures

Genetic Landscape

SLC34A1 function has not been fully characterized.

Hypophosphatemic nephrolithiasis/osteoporosis 1 is associated with mutations in the SLC34A1 gene on chromosome 5.

Diagnosis

Genetic testing for SLC34A1 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 hypophosphatemic nephrolithiasis/osteoporosis 1.

1 publication has been identified in PubMed for hypophosphatemic nephrolithiasis/osteoporosis 1. Research spans Case Report / Case Series (100%).

Recent Publications

Ravi Kumar P (2026). [PMID: 41798566](https://pubmed.ncbi.nlm.nih.gov/41798566/). *Cureus*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:25 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612286

GARD

Genetic and Rare Diseases Info Center

GARD:18346

Questions for Your Care Team

→Should I pursue genetic testing for SLC34A1, and what would the results mean for my family?
→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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hypophosphatemic nephrolithiasis/osteoporosis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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