hypophosphatasia
Findings
No curated finding names hypophosphatasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).
Definition from the Mondo Disease Ontology (MONDO:0018570), read 2026-09-29. CC BY 4.0.
Features
45 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Decreased circulating alkaline phosphatase activityHPOHP:0003282
- Very frequent (80% to 99% of cases)
- EmphysemaHPOHP:0002097
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
Show the remaining 33
- Delayed fracture healingHPOHP:0032537
- Frequent (30% to 79% of cases)
- Elevated circulating vitamin B6 concentrationHPOHP:0032477
- Frequent (30% to 79% of cases)
- Elevated urine pyrophosphateHPOHP:0003491
- Frequent (30% to 79% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ALPLHGNC:438
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Semidominant · 2023
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
Other names
4 names
Resolves to: hypophosphatasia
- Also called
- deficiency of alkaline phosphatase (disorder) [ambiguous]HPPphosphoethanolaminuriaRathburn disease