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hypophosphatemic nephrolithiasis/osteoporosis 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypophosphatemic nephrolithiasis/osteoporosis 2

MONDO:0012851

Also known as:hypophosphatemic nephrolithiasis/osteoporosis type 2nephrolithiasis/osteoporosis, hypophosphatemic, type 2NPHLOP2

Overview

GeneticsAutosomal dominant · NHERF1 (chr 17)

ResearchLimited published research (7 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: Weak and brittle bones (osteoporosis), Mild bone density loss (osteopenia), Renal phosphate wasting, and Hyperphosphaturia and 3 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

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.

NHERF1 encodes NHERF family PDZ scaffold protein 1 (358 aa). Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Highest expression in Esophagus Mucosa (492.8 TPM) and Adrenal Gland (199.2 TPM).

Hypophosphatemic nephrolithiasis/osteoporosis 2 is associated with mutations in the NHERF1 gene on chromosome 17.

NHERF1 is classified as a druggable target (External Side Of Plasma Membrane and Transporter categories) with score 0.0.

Diagnosis

Genetic testing for NHERF1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypophosphatemic nephrolithiasis/osteoporosis 2 has been reported in the published literature.

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 2.

7 publications have been identified in PubMed for hypophosphatemic nephrolithiasis/osteoporosis 2. Research spans Review / Meta-Analysis (29%), Clinical Trial Publication (29%), and Diagnostic / Biomarker (14%).

Recent Publications

Ravi Kumar P (2026). [PMID: 41798566](https://pubmed.ncbi.nlm.nih.gov/41798566/). *Cureus*. [Case Report / Case Series]
Ali DS (2025). [PMID: 39960858](https://pubmed.ncbi.nlm.nih.gov/39960858/). *The Journal of clinical endocrinology and metabolism*. [Clinical Trial Publication]
Silva TDBD (2025). [PMID: 41370665](https://pubmed.ncbi.nlm.nih.gov/41370665/). *Archives of endocrinology and metabolism*. [Review / Meta-Analysis]
Khan AA (2025). [PMID: 40243526](https://pubmed.ncbi.nlm.nih.gov/40243526/). *The Journal of clinical endocrinology and metabolism*. [Clinical Trial Publication]
García-Castaño A (2024). [PMID: 38586466](https://pubmed.ncbi.nlm.nih.gov/38586466/). *Frontiers in endocrinology*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612287

GARD

Genetic and Rare Diseases Info Center

GARD:18347

Questions for Your Care Team

→Should I pursue genetic testing for NHERF1, 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 2

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

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