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hyperphosphatasia-intellectual disability syndrome (HPMR) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperphosphatasia-intellectual disability syndrome

MONDO:0016596

Also known as:HPMRMabry syndromehyperphosphatasia with intellectual disability syndrome

Overview

OnsetINFANTILE

Diagnosis

Biomarker and diagnostic research for hyperphosphatasia-intellectual disability syndrome has been reported in the published literature.

Prognosis

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.

No clinical trials have been registered for hyperphosphatasia-intellectual disability syndrome.

210 publications have been identified in PubMed for hyperphosphatasia-intellectual disability syndrome. Research spans Review / Meta-Analysis (33%), Epidemiology / Natural History (30%), and Case Report / Case Series (19%).

Research Type	Count	% of Total
Research summaries	68	33%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:247262

GARD

Genetic and Rare Diseases Info Center

GARD:17188

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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hyperphosphatasia-intellectual disability syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Questions for Your Care Team

Questions for Your Care Team

Recent Publications