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hereditary hypophosphatemic rickets with hypercalciuria (HHRH) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary hypophosphatemic rickets with hypercalciuria

MONDO:0009431

Also known as:HHRHhypercalciuric hypophosphatemic ricketshypophosphatemic hypercalciuric rickets

Find Clinical TrialsTrials

Overview

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.

GeneticsAutosomal recessive · SLC34A3 (chr 9)

Clinical Trials1 registered · 1 recruiting

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: Elevated circulating alkaline phosphatase concentration, Renal phosphate wasting, Hypophosphatemic rickets, and Hypercalciuria and others; and very common findings: High serum calcitriol. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	6	Femoral bowing, Recurrent fractures, Hypophosphatemic rickets

Genetic Landscape

SLC34A3 function has not been fully characterized.

Hereditary hypophosphatemic rickets with hypercalciuria is associated with mutations in the SLC34A3 gene on chromosome 9.

Diagnosis

Genetic testing for SLC34A3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 1 very common feature, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

11 publications have been identified in PubMed for hereditary hypophosphatemic rickets with hypercalciuria. Research spans Case Report / Case Series (45%), Other (18%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Patient case studies	5	45%

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 2:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:241530

Orphanet

European rare disease database

Orphanet:157215

GARD

Genetic and Rare Diseases Info Center

GARD:16977

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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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Kisho

hereditary hypophosphatemic rickets with hypercalciuria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hereditary hypophosphatemic rickets with hypercalciuria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications