Wolfram Syndrome
ICD-10: 5A52MeSH: D014929ORPHA: 3463
Overview
A progressive neurodegenerative disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD). Caused by mutations in the WFS1 gene. Disease prevalence is approximately 1 in 500,000 individuals.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Wolfram Syndrome, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentOptic atrophyDiabetes mellitusDiabetes insipidusPolydipsiaRecurrent urinary tract infectionsAbnormality of the urinary systemNephropathyNystagmusSeizureAtaxiaDysarthriaFeeding difficulties in infancyAbnormal mesentery morphologyDysuriaMale hypogonadismHypogonadismGlaucomaOphthalmoplegiaAtypical behaviorDementiaHallucinationsDelayed pubertyIntellectual disabilityJoint stiffnessCardiomyopathyAnemiaConstipationMalabsorptionRespiratory insufficiencyCerebral cortical atrophyGastrointestinal hemorrhageSleep disturbanceDevelopmental regressionGastric ulcerCentral apneaMyopathyPeripheral neuropathyAbnormal autonomic nervous system physiology
Classification & Codes
ICD-10 Code
5A52MeSH Code
D014929Orphanet Code
ORPHA:3463Wolfram Syndrome
| ICD-10 | 5A52 |
| MeSH | D014929 |
| Orphanet | ORPHA:3463 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/21/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO