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hypophosphatemic rickets, autosomal recessive, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypophosphatemic rickets, autosomal recessive, 1

MONDO:0009430

Also known as:DMP1 autosomal recessive hypophosphatemic ricketsautosomal recessive hypophosphatemic rickets caused by mutation in DMP1hypophosphatemic rickets, AR

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Overview

Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.

GeneticsAutosomal recessive · DMP1 (chr 4)

Clinical Trials3 registered

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: Craniosynostosis, Inner ear hearing loss (sensorineural hearing impairment), Increased bone density (increased bone mineral density), and Rickets and 2 more.

Organ System	Phenotype Count	Example Features
Bones and joints	3	Increased bone density (increased bone mineral density), Rickets, Hypophosphatemic rickets

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.

DMP1 encodes dentin matrix acidic phosphoprotein 1 (513 aa). May have a dual function during osteoblast differentiation. Highest expression in Testis (2.0 TPM) and Artery Aorta (0.2 TPM).

Hypophosphatemic rickets, autosomal recessive, 1 is associated with mutations in the DMP1 gene on chromosome 4.

The DMP1 protein participates in DMP1:Integrin alphVbeta3 pathway.

DMP1 is classified as a druggable target (Druggable Genome category) with score 7.5.

Diagnosis

Genetic testing for DMP1 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.

3 clinical trials registered. Interventions under study include drug therapy. Pipeline includes 2 PHASE3, 1 PHASE1. Research is primarily industry-sponsored.

16 publications have been identified in PubMed for hypophosphatemic rickets, autosomal recessive, 1. Research spans Basic Science / Preclinical (31%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (25%).

Research Type	Count	% of Total
Laboratory research	5	31%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:241520

GARD

Genetic and Rare Diseases Info Center

GARD:18416

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 3 active clinical trials 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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hypophosphatemic rickets, autosomal recessive, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypophosphatemic rickets, autosomal recessive, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications