Wolfram syndrome is an inherited condition that is typically associated with childhood-onset insulin-dependent diabetes mellitus and progressive optic atrophy. In addition, many people with Wolfram syndrome also develop diabetes insipidus and sensorineural hearing loss. Another name for the syndrome is DIDMOAD, which refers to diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Most cases of Wolfram syndrome are caused by changes (mutations) in the WFS-1 gene. Less severe mutations in the WFS-1 gene cause WFS1-related disorders, in which the affected person has only some of the features of Wolfram syndrome, such as sensorineural hearing loss without diabetes or other features.

Full article: https://rarediseases.org/rare-diseases/wolfram-syndrome/

Publication: rarediseases.org | Publication Date: September 23, 2020

Authors: Hershey, T., Marshall, B., & May