Disease

Alkaptonuria

About the Disease
Alkaptonuria, also known as homogentisic acid oxidase deficiency, is related to ochronosis and abdominal obesity-metabolic syndrome 1, and has symptoms including back pain An important gene associated with Alkaptonuria is HGD (Homogentisate 1,2-Dioxygenase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Nitisinone and D-Tyrosine have been mentioned in the context of this disorder. Affiliated tissues include skin, prostate and eye, and related phenotypes are joint stiffness and aminoaciduria

Common Targets
HPD | HGD

疾病靶点研报
Alkaptonuria

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