Ochronosis

Ochronosis is related to alkaptonuria and abdominal obesity-metabolic syndrome 1, and has symptoms including polydipsia, muscle weakness and dry skin. An important gene associated with Ochronosis 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 Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and pigmentation