Hypophosphatasia (HPP)

Hypophosphatasia, also known as phosphoethanolaminuria, is related to hypophosphatasia, infantile and hypophosphatasia, childhood, and has symptoms including seizures, waddling gait and apnea. An important gene associated with Hypophosphatasia is ALPL (Alkaline Phosphatase, Biomineralization Associated), and among its related pathways/superpathways are Phospholipase-C Pathway and Signaling by Receptor Tyrosine Kinases. The drugs Bortezomib and Rituximab have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are bowing of the long bones and abnormality of the dentition