Disease

Hypophosphatasia1, 2

Gene

ALPL

Inheritance AR and AD
Current Treatments tissue-nonspecific alkaline phosphatase (TNSALP) enzyme replacement therapy - asfotase alfa, avoid bisphosphonates
Evidence for Treatment guideline3, 4
Non-Molecular Testing Availability yes
Non-Molecular Test serum pyridoxal 5'-phosphate (PLP), serum unfractionated alkaline phosphatase (ALP) activity1
ClinGen https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC004
Disease Frequency (per 100,000) 15
Genes Included in Disease Frequency ALPL
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=ALPL&term=&cntry=&state=&city=&dist=
Last Updated: September 30, 2026
RX Genes
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