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

Rare Disease

childhood hypophosphatasia

MONDO:1010168

Also known as:hypophosphatasia of childhoodpediatric hypophosphatasiachildhood-onset hypophosphatasia

Find Clinical TrialsTrials

Overview

Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.

GeneticsAutosomal recessive · ALPL (chr 1)

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: Bowdler spurs. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Seizure, Waddling gait
Head and neck

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.

ALPL encodes alkaline phosphatase, biomineralization associated (524 aa). Alkaline phosphatase that metabolizes various phosphate compounds and plays a key role in skeletal mineralization and adaptive thermogenesis. Highest expression in Whole Blood (597.6 TPM) and Lung (87.2 TPM).

Childhood hypophosphatasia is associated with mutations in the ALPL gene on chromosome 1.

ALPL is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.9.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Clinical diagnostic criteria for hypophosphatasia have been published .

Suggestive Findings

Hypophosphatasia should be suspected in probands with the following clinical, laboratory, and radiographic features:

Clinical features

Clinical features of infantile rickets: growth failure, craniotabes, craniosynostosis, blue sclerae, flail chest, costochondral enlargement ("rachitic rosary"), scoliosis, thickening of wrists, knees, and ankles, bowing of the legs, lax ligaments, and hypotonia

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for childhood hypophosphatasia. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Medical management guidelines for the treatment of hypophosphatasia with asfotase alfa have been published . In addition, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with hypophosphatasia, the evaluations summarized in and (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations in are recommended.

Table 11.

Hypophosphatasia: Recommended Surveillance

System/Concern | Evaluation | Frequency

In those receiving asfotase alfa1

| ALP activity | • In infants: at onset of treatment, ages 3, 6, 12 mos, then every 6 mos

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.

98 publications have been identified in PubMed for childhood hypophosphatasia. Research spans Case Report / Case Series (34%), Review / Meta-Analysis (19%), and Basic Science / Preclinical (14%).

Research Type	Count	% of Total
Patient case studies	33	34%

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 9:15 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:241510

Orphanet

European rare disease database

Orphanet:247667

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?

← Back to All Diseases

Kisho

childhood hypophosphatasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

In those receiving asfotase alfa1

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

In Utero

Seizures

Craniosynostosis

Renal function

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

childhood hypophosphatasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

In those receiving asfotase alfa1

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

In Utero

Seizures

Craniosynostosis

Renal function

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications