Wolfram syndrome 2
MONDO:0011502Mondo
Findings
No curated finding names Wolfram syndrome 2 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 CISD2 gene.
Definition from the Mondo Disease Ontology (MONDO:0011502), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
8 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
- 16 of 16 reported patients
- Optic atrophyHPOHP:0000648
- 16 of 16 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 14 of 16 reported patients
- Peptic ulcerHPOHP:0004398
- 11 of 16 reported patients
- Diabetes insipidusHPOHP:0000873
- 0 of 16 reported patients
- Abnormal bleedingHPOHP:0001892
- DepressionHPOHP:0000716
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.
- CISD2HGNC:24212
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: Wolfram syndrome 2
- Also called
- CISD2 Wolfram syndromeWFS2Wolfram syndrome caused by mutation in CISD2Wolfram syndrome type 2