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Wolfram syndrome, mitochondrial form - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Wolfram syndrome, mitochondrial form

MONDO:0010800

Also known as:Didmoad syndrome, mitochondrial formdiabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form

Overview

GeneticsMitochondrial (maternal), Autosomal recessive

OnsetINFANTILE

ResearchLimited published research (5 articles)

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: Seizure, Hydroureter, Diabetes mellitus, and Problems with involuntary body functions (abnormal autonomic nervous system physiology) and 12 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Megaloblastic anemia, Sideroblastic anemia, Low platelet count (thrombocytopenia)

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, mitochondrial form.

5 publications have been identified in PubMed for Wolfram syndrome, mitochondrial form. Research spans Review / Meta-Analysis (60%) and Basic Science / Preclinical (40%).

Recent Publications

Cabantchik IZ (2025). [PMID: 40603783](https://pubmed.ncbi.nlm.nih.gov/40603783/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Kalkman HO (2025). [PMID: 40955171](https://pubmed.ncbi.nlm.nih.gov/40955171/). *Hum Psychopharmacol*. [Review / Meta-Analysis]
Gobble MRS (2025). [PMID: 40128490](https://pubmed.ncbi.nlm.nih.gov/40128490/). *Curr Diab Rep*. [Review / Meta-Analysis]
Shen ZQ (2025). [PMID: 40189101](https://pubmed.ncbi.nlm.nih.gov/40189101/). *Mol Metab*. [Basic Science / Preclinical]
Aubry L (2025). [PMID: 39503425](https://pubmed.ncbi.nlm.nih.gov/39503425/). *Neural Regen Res*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 6:57 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:598500

GARD

Genetic and Rare Diseases Info Center

GARD:15313

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?

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Wolfram syndrome, mitochondrial form

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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