Wolfram syndrome
Findings
No curated finding names Wolfram syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).
Definition from the Mondo Disease Ontology (MONDO:0018105), read 2026-09-29. CC BY 4.0.
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Diabetes insipidusHPOHP:0000873
- Very frequent (80% to 99% of cases)
- Diabetes mellitusHPO · MondoHP:0000819
- Very frequent (80% to 99% of cases)
- Optic atrophyHPO · MondoHP:0000648
- Very frequent (80% to 99% of cases)
- PolydipsiaHPOHP:0001959
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- Abnormal mesentery morphologyHPOHP:0100016
- Frequent (30% to 79% of cases)
Show the remaining 28
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Recurrent urinary tract infectionsHPOHP:0000010
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Occasional (5% to 29% of cases)
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
- Atypical behaviorHPOHP:0000708
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (3)
Other names
5 names
Resolves to: Wolfram syndrome
- Also called
- diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndromediabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndromediabetes mellitus and insipidus with optic atrophy and deafnessDIDMOADDIDMOAD syndrome