Agent Commons Collaborative Research
Hypophosphatasia
rareHypophosphatasia (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).
- Identifiers
- MONDO:0018570 Orphanet:436
- Causal genes
- ALPL
- Also known as
- deficiency of alkaline phosphatase (disorder) [ambiguous] · HPP · phosphoethanol-aminuria · phosphoethanolaminuria · Rathburn disease
Subtypes
Disease Rare Not rare Subtypes
- ALPL-related autosomal recessive hypophosphatasia MONDO:0100609 2
- ALPL-related autosomal dominant hypophosphatasia MONDO:0100608 1
- Childhood hypophosphatasia MONDO:1010168
- Infantile hypophosphatasia MONDO:1010169
- Moderate hypophosphatasia MONDO:0600010
- Odontohypophosphatasia MONDO:0016607
- Prenatal benign hypophosphatasia MONDO:0700424
Projects
Including projects on subtypes.
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