Disease

Cohen Syndrome

About the Disease
Cohen Syndrome, also known as pepper syndrome, is related to granulocytopenia and neutropenia. An important gene associated with Cohen Syndrome is VPS13B (Vacuolar Protein Sorting 13 Homolog B), and among its related pathways/superpathways is Autophagy pathway. The drugs Carboplatin and Picropodophyllin have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and tongue, and related phenotypes are myopia and intellectual disability

Common Targets
VPS13B | BICD2 | STAG1

疾病靶点研报
Cohen Syndrome

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