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sulfide quinone oxidoreductase deficiency (SQORD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sulfide quinone oxidoreductase deficiency

MONDO:0030982

Also known as:SQORDsulfide:quinone oxidoreductase deficiency

Overview

GeneticsAutosomal recessive · SQOR (chr 15)

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: Acute encephalopathy, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated brain lactate level by MRS, and Lactic acidosis; and common findings: Migraine, Tonic seizure, and Coma.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Acute encephalopathy, Migraine, Tonic seizure

Genetic Landscape

SQOR function has not been fully characterized.

Sulfide quinone oxidoreductase deficiency is associated with mutations in the SQOR gene on chromosome 15.

Diagnosis

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

Prognosis

Phenotype severity distribution: 4 always present features, 3 common features.

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 sulfide quinone oxidoreductase deficiency.

10 publications have been identified in PubMed for sulfide quinone oxidoreductase deficiency. Research spans Basic Science / Preclinical (90%) and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Laboratory research	9	90%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 3:20 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619221

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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sulfide quinone oxidoreductase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

sulfide quinone oxidoreductase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications