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Deficiency of alkaline phosphatase

disorder
SNOMED 360792001CUI C0020630

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Asfotase alfa

substance

Clinical Trials

3
Total Trials
2
Recruiting
1
With Results

Recent Trials

Phase 3 Study of ALXN1850 Versus Placebo in Adolescent and Adult Participants With HPP Who Have Not Previously Been Treated With Asfotase Alfa

NCT06079281Phase 3Active Not Recruiting124 enrolled

Phase 3 Study of ALXN1850 in Treatment-Naïve Pediatric Participants With HPP

NCT06079359Phase 3Active Not Recruiting30 enrolled

Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan

NCT02531867Phase 4Completed13 enrolled
View all 3 trials on ClinicalTrials.gov

Research Evidence

Peer-reviewed studies linked via MeSH term "Hypophosphatasias" from the MEDLINE/PubMed database.

Sort:
Dental Management of Genetic Dental Disorders: A Critical Review.
[object Object], [object Object], [object Object] et al. · J Dent Res · 2025
PMID: 39905279Meta-AnalysisFull text (PMC)
Efficacy and safety of asfotase alfa in patients with hypophosphatasia: A systematic review.
[object Object], [object Object], [object Object] et al. · Bone · 2024
PMID: 39089608Meta-Analysis
Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.
[object Object], [object Object], [object Object] et al. · Orphanet J Rare Dis · 2019
PMID: 31023354Meta-AnalysisFull text (PMC)
Mineral Intake and Clinical Symptoms in Adult Patients with Hypophosphatasia.
[object Object], [object Object], [object Object] · J Clin Endocrinol Metab · 2020
PMID: 32502243RCT
Ectopic Ocular Surface Calcification in Patients With Hypophosphatasia Treated With Asfotase Alfa.
[object Object], [object Object], [object Object] et al. · Cornea · 2019
PMID: 30969260RCT
Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.
[object Object], [object Object] · J Inherit Metab Dis · 2026
PMID: 41376271Review
[Rare osteological diseases in the rheumatological consultation: hypophosphatasia and phosphate loss syndromes].
[object Object], [object Object], [object Object] et al. · Z Rheumatol · 2025
PMID: 39982479Review
Diagnostic Approach to Abnormal Alkaline Phosphatase Value.
[object Object], [object Object], [object Object] et al. · Mayo Clin Proc · 2025
PMID: 40019430Review
Challenges in Hypophosphatasia: Suspicion, Diagnosis, Genetics, Management, and Follow-Up.
[object Object], [object Object], [object Object] et al. · Horm Res Paediatr · 2025
PMID: 39102795Review
Diagnosis, treatment, and follow-up of patients with hypophosphatasia.
[object Object], [object Object], [object Object] et al. · Endocrine · 2025
PMID: 39663303ReviewFull text (PMC)
Search all PubMed articles for Deficiency of alkaline phosphatase

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Bowed long bones
Very frequent (80-99%)HP:0006487
Decreased body height
Very frequent (80-99%)HP:0004322
Deformity of the skull
Very frequent (80-99%)HP:0001363
Dental anomalies
Very frequent (80-99%)HP:0000164
Failure to thrive in first year of life
Very frequent (80-99%)HP:0001531
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Large bregma sutures
Very frequent (80-99%)HP:0000239
Low chest circumference
Very frequent (80-99%)HP:0000774
Pulmonary emphysema
Very frequent (80-99%)HP:0002097
Rib anomalies
Very frequent (80-99%)HP:0000772
Skin dimple over apex of long bone angulation
Very frequent (80-99%)HP:0001024
Skin dimples
Very frequent (80-99%)HP:0010781
Epilepsy
Frequent (30-79%)HP:0001250
Hypercalcemia
Frequent (30-79%)HP:0003072
Irritable mood
Frequent (30-79%)HP:0000737
Low number of red blood cells or haemoglobin
Frequent (30-79%)HP:0001903
Muscular hypotonia
Frequent (30-79%)HP:0001252
Recurrent fractures
Frequent (30-79%)HP:0002757
Respiratory insufficiency
Frequent (30-79%)HP:0002093

Related Conditions

Low alkaline phosphatase due to chronic kidney disease(child)
Specific enzyme deficiency(parent)

Quick Facts

SNOMED CT
360792001
UMLS CUI
C0020630
Fully Specified Name
Deficiency of alkaline phosphatase (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
20
Known Treatments
1
Clinical Trials
3
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.