Hypophosphatasia is an inherited disorder caused by deficiency of alkaline phosphatase activity and characterized by defective bone and teeth mineralization. The transmission of severe forms is autosomal recessive, while milder forms may be transmitted as dominant or recessive autosomal traits.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Disorders of metabolite absorption or transport
5C64 Disorders of mineral absorption or transport
H00213 Hypophosphatasia
