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Wolfram Syndrome

Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, diabetes insipidus, optic nerve atrophy, hearing loss, and neurodegeneration

Prevalence

1-9 / 1 000 000

331-2,979

US Estimated

513-4,622

Europe Estimated

Age of Onset

ICD-10

E13.8

Inheritance

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

Early-onset insulin-dependent diabetes mellitus is typically the first presenting feature, often diagnosed before age 10 and notably without autoimmune markers or ketoacidosis

FACT

Progressive optic atrophy usually follows within a few years, leading to bilateral vision loss by adolescence; color vision and visual acuity decline steadily

FACT

Sensorineural hearing loss, diabetes insipidus, and neurodegeneration (ataxia, cognitive decline, psychiatric symptoms) commonly emerge in the second decade

FACT

Urological abnormalities—such as a neurogenic bladder or atonic bladder—occur in up to 90% of patients, often causing incontinence or recurrent infections

FACT

Wolfram Syndrome is caused by mutations in WFS1 (type 1) or CISD2 (type 2), both affecting ER-mitochondrial function and calcium homeostasis; genetic testing confirms diagnosis and can guide prognosis

Interest over time

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