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Wolfram syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Wolfram syndrome 2

MONDO:0011502

Also known as:CISD2 Wolfram syndromeWFS2Wolfram syndrome caused by mutation in CISD2

Overview

Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.

GeneticsAutosomal recessive · CISD2 (chr 4)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Diabetes mellitus and Damage to the optic nerve (optic atrophy); and very common findings: Inner ear hearing loss (sensorineural hearing impairment). 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	3	Diabetes mellitus, Diabetes insipidus, Primary amenorrhea

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CISD2 encodes CDGSH iron sulfur domain 2 (135 aa). Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum. Highest expression in Brain Cerebellar Hemisphere (28.1 TPM) and Cells EBV-transformed lymphocytes (22.8 TPM).

Wolfram syndrome 2 is associated with mutations in the CISD2 gene on chromosome 4.

CISD2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CISD2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Wolfram syndrome 2.

13 publications have been identified in PubMed for Wolfram syndrome 2. Research spans Basic Science / Preclinical (46%), Review / Meta-Analysis (31%), and Gene Therapy / Novel Therapeutics (15%).

Research Type	Count	% of Total
Laboratory research	6	46%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604928

GARD

Genetic and Rare Diseases Info Center

GARD:15374

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

Wolfram syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Clinical Trial Design in Wolfram Syndrome: Lessons from HELIOS and Rare Disease Research - Xtalks

Selected Brain Metabolites and Mitochondrial DNA Copy Number as Potential Markers of Ongoing Neurodegeneration in Patients with Wolfram Syndrome.

Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates.

Wolfram syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Clinical Trial Design in Wolfram Syndrome: Lessons from HELIOS and Rare Disease Research - Xtalks

Selected Brain Metabolites and Mitochondrial DNA Copy Number as Potential Markers of Ongoing Neurodegeneration in Patients with Wolfram Syndrome.

Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates.