perinatal lethal hypophosphatasia
MONDO:0016605Mondo
Findings
No curated finding names perinatal lethal hypophosphatasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.
Definition from the Mondo Disease Ontology (MONDO:0016605), read 2026-09-29. CC BY 4.0.
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
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: perinatal lethal hypophosphatasia
- Also called
- HPPNperinatal lethal phosphoethanolaminuriaperinatal lethal Rathburn disease