Wolfram syndrome 1
MONDO:0009101Mondo
Findings
No curated finding names Wolfram syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009101), read 2026-09-29. CC BY 4.0.
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
10 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 mellitusHPOHP:0000819
- 20 of 20 reported patients
- Optic atrophyHPOHP:0000648
- 10 of 10 reported patients · Juvenile onset
- 9 of 10 reported patients
- Hearing impairmentHPOHP:0000365
- 9 of 10 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 6 of 10 reported patients
- CataractHPOHP:0000518
- 5 of 10 reported patients
- Diabetes insipidusHPOHP:0000873
- 8 of 20 reported patients
- AtaxiaHPO
Genes
1 gene
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.
- WFS1HGNC:12762
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: Wolfram syndrome 1
- Also called
- WFS1WFS1 Wolfram syndromeWolfram syndrome caused by mutation in WFS1Wolfram syndrome type 1