Chediak-Higashi Syndrome

About the Disease
Chediak-Higashi Syndrome, also known as chs, is related to albinism and oculocutaneous albinism, and has symptoms including icterus, seizures and tremor. An important gene associated with Chediak-Higashi Syndrome is LYST (Lysosomal Trafficking Regulator), and among its related pathways/superpathways are NF-kappaB Signaling and GPR143 in melanocytes and retinal pigment epithelium cells. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone marrow, and related phenotypes are hypopigmentation of the skin and hemophagocytosis

Common Targets
LYST | WDR91

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