Chediak-Higashi Syndrome (CHS)

Chediak-Higashi Syndrome, also known as chédiak-higashi syndrome, 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 Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are abnormal leukocyte morphology and recurrent infections