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severe hypophosphatasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe hypophosphatasia

MONDO:0600009

Overview

A rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.

ResearchLimited published research (2 articles)

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 severe hypophosphatasia.

3 publications have been identified in PubMed for severe hypophosphatasia. Kisho has analyzed 2 by research type. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Kim YJ (2025). [PMID: 39873011](https://pubmed.ncbi.nlm.nih.gov/39873011/). *Journal of dental sciences*. [Case Report / Case Series]
Salama M (2025). [PMID: 40236614](https://pubmed.ncbi.nlm.nih.gov/40236614/). *JCEM case reports*. [Review / Meta-Analysis]

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

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severe hypophosphatasia

Overview

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team