Disease

Hypophosphatasia

About the Disease
Hypophosphatasia, also known as phosphoethanolaminuria, is related to hypophosphatasia, childhood and hypophosphatasia, infantile, 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 RhoGDI Pathway and Vitamin D receptor pathway. The drugs Hops and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and skin, and related phenotypes are bowing of the long bones and abnormality of the dentition

Common Targets
Matrix Metalloproteinase (MMP) (nonspecified subtype) | SOST | Alkaline Phosphatase (ALP) (nonspecified subtype) | Ectonucleotide pyrophosphatase/phosphodiesterase (E-NPP) (nonspecified subtype) | ENPP1 | G4089 | ALPL

疾病靶点研报
Hypophosphatasia

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