Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

deafness-encephaloneuropathy-obesity-valvulopathy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

deafness-encephaloneuropathy-obesity-valvulopathy syndrome

MONDO:0013837

Also known as:coenzyme Q10 deficiency, primary, type 2hearing loss-encephaloneuropathy-obesity-valvulopathy syndromeCOQ10D2

Overview

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.

GeneticsAutosomal recessive · PDSS1 (chr 10)

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: Mild intellectual disability, Hearing loss (hearing impairment), Increased circulating lactate concentration, and Elevated lactate:pyruvate ratio and others; and common findings: Areflexia, High blood pressure in lung arteries (pulmonary arterial hypertension), Overweight, and Bulimia.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	High blood pressure in lung arteries (pulmonary arterial hypertension), Aortic regurgitation, Mitral regurgitation

Genetic Landscape

PDSS1 function has not been fully characterized.

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is associated with mutations in the PDSS1 gene on chromosome 10.

Diagnosis

Genetic testing for PDSS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for deafness-encephaloneuropathy-obesity-valvulopathy syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 deafness-encephaloneuropathy-obesity-valvulopathy syndrome.

297 publications have been identified in PubMed for deafness-encephaloneuropathy-obesity-valvulopathy syndrome. Kisho has analyzed 148 by research type. Research spans Review / Meta-Analysis (66%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Research summaries	97	66%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614651

Orphanet

European rare disease database

Orphanet:254898

GARD

Genetic and Rare Diseases Info Center

GARD:17230

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

deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications