Oculocutaneous Albinism

About the Disease
Oculocutaneous Albinism, also known as albinism, oculocutaneous, is related to albinism, oculocutaneous, type ia and albinism, oculocutaneous, type v. An important gene associated with Oculocutaneous Albinism is TYR (Tyrosinase), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Prader-Willi and Angelman syndrome. The drugs Nitisinone and Pirfenidone have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and retina, and related phenotypes are nystagmus and photophobia

Common Targets
TYR | HPD | TRIM49 | SLC24A5 | PMEL | ABCA4 | LRRC37A | DCT | OCA2 | SLC45A2 | HPS5 | TYRP1 | GPR143 | DDC | HPS6

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