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).
Genes analysed
Also known as
childhood hypophosphatasia; deficiency of alkaline phosphatase (disorder) [ambiguous]; HPP; hypophospatasia, childhood; hypophosphatasia mild; phosphoethanol-aminuria; phosphoethanolaminuria; Rathburn disease
Includes 10 related subtypes ↓Hide subtypes ↑
- adult hypophosphatasia
- ALPL-related autosomal dominant hypophosphatasia
- ALPL-related autosomal recessive hypophosphatasia
- childhood hypophosphatasia
- infantile hypophosphatasia
- moderate hypophosphatasia
- odontohypophosphatasia
- perinatal lethal hypophosphatasia
- prenatal benign hypophosphatasia
- severe hypophosphatasia
