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

Rare Disease

moderate hypophosphatasia

MONDO:0600010

Overview

A rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood. It can inherited via either autosomal dominant or autosomal recessive inheritance.

ResearchLimited published research (7 articles)

Diagnosis

Biomarker and diagnostic research for moderate hypophosphatasia 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 moderate hypophosphatasia.

7 publications have been identified in PubMed for moderate hypophosphatasia. Research spans Review / Meta-Analysis (43%), Case Report / Case Series (29%), and Diagnostic / Biomarker (14%).

Recent Publications

Tabegna FGA (2025). [PMID: 40906226](https://pubmed.ncbi.nlm.nih.gov/40906226/). *Curr Osteoporos Rep*. [Review / Meta-Analysis]
Noda Y (2025). [PMID: 39925621](https://pubmed.ncbi.nlm.nih.gov/39925621/). *JBMR Plus*. [Diagnostic / Biomarker]
Sergi CM (2025). [PMID: 41465148](https://pubmed.ncbi.nlm.nih.gov/41465148/). *Genes (Basel)*. [Review / Meta-Analysis]
Prakash V (2025). [PMID: 40409424](https://pubmed.ncbi.nlm.nih.gov/40409424/). *Bone*. [Case Report / Case Series]
Rojas Martínez JA (2024). [PMID: 39506814](https://pubmed.ncbi.nlm.nih.gov/39506814/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Giuca MR (2024). [PMID: 39212455](https://pubmed.ncbi.nlm.nih.gov/39212455/). *Eur J Paediatr Dent*. [Review / Meta-Analysis]

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 2:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

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Kisho

moderate hypophosphatasia

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Adult Hypophosphatasia with a Single Heterozygous c.572A>G p.Glu191Gly Mutation in the ALPL gene: Case Report.

Osteoglycin and Sclerostin Imbalance in Hypophosphatasia: Bone-Derived Markers of Mineralization and Systemic Involvement.

Low alkaline phosphatase in adults: implications for the diagnosis of hypophosphatasia during evaluation for osteoporosis.

moderate hypophosphatasia

Overview

Diagnosis

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Adult Hypophosphatasia with a Single Heterozygous c.572A>G p.Glu191Gly Mutation in the ALPL gene: Case Report.

Osteoglycin and Sclerostin Imbalance in Hypophosphatasia: Bone-Derived Markers of Mineralization and Systemic Involvement.

Low alkaline phosphatase in adults: implications for the diagnosis of hypophosphatasia during evaluation for osteoporosis.