Cohen Syndrome (COH1)

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 Topotecan and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related phenotypes are myopia and intellectual disability