Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study

Any patient worldwide with a diagnosis of Wolfram syndrome and with access to the Internet can be enrolled in the Registry. Since the disease usually manifests in the first decade of life and tends to have an inevitably progressive course, participation of minors is important for establishing the natural course of the disease. Inclusion Criteria: Major Criteria * Diabetes mellitus \<16 yrs * Optic atrophy \<16 yrs Minor Criteria * Diabetes insipidus * Diabetes mellitus \>16yrs * Optic atrophy \>16 yrs * Sensorineural deafness * Neurological signs (ataxia, epilepsy, cognitive impairment) * Renal tract abnormalities (structural or functional) * 1 loss of function mutation in WFS1/CISD2 AND/OR family history of Wolfram syndrome Minimum Required * 2 major OR * 1 major plus 2 minor criteria OR * 2 pathological WFS1 or CISD2 mutations are identified Other variable suggestive evidence * Hypogonadism (males) * An absence of type 1 diabetes auto-antibodies * Bilateral cataracts * Psychiatric disorder * Gastrointestinal Exclusion Criteria: Inability of a patient and/or a guardian to obtain help with translation and thus, inability to understand questionnaire. Parent, Sibs, and Spouses: \- Parents, sibs, and spouses that are unaffected will be recruited as controls. Inclusion criterion is having the unaffected status and exclusion criterion is if the person cannot understand the Informed Consent Document.