adult hypophosphatasia
Findings
No curated finding names adult hypophosphatasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A moderate form of hypophosphatasia characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures, and dental anomalies.
Definition from the Mondo Disease Ontology (MONDO:1010154), read 2026-09-29. CC BY 4.0.
Features
1 feature
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.
- PhosphoethanolaminuriaHPOHP:0003239
- 59 of 59 reported patients
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
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: adult hypophosphatasia
- Also called
- attenuated hypophosphatasiaHPPAhypophosphatasia of adultsmild hypophosphatasia