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mitochondrial complex 2 deficiency, nuclear type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex 2 deficiency, nuclear type 3

MONDO:0030937

Also known as:MC2DN3SDHD-related Nuclear type mitochondrial complex II deficiencymitochondrial complex II deficiency, nuclear type 3

Overview

A an autosomal recessive caused by pathogenic variants in the SDHD gene, leading to dysfunction of mitochondrial complex II. Clinical features are variable and may include Leigh syndrome, cardiomyopathy, and other neurological and muscular manifestations.

GeneticsAutosomal recessive · SDHD (chr 11)

ResearchLimited published research (9 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 always present findings: Dystonia, Seizure, Left ventricular systolic dysfunction, and Low muscle tone (hypotonia) and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Dystonia, Seizure, Ataxia
Heart and blood vessels

Genetic Landscape

SDHD function has not been fully characterized.

Mitochondrial complex 2 deficiency, nuclear type 3 is associated with mutations in the SDHD gene on chromosome 11.

Diagnosis

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

Prognosis

Phenotype severity distribution: 26 always present 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 mitochondrial complex 2 deficiency, nuclear type 3.

9 publications have been identified in PubMed for mitochondrial complex 2 deficiency, nuclear type 3. Research spans Basic Science / Preclinical (56%), Review / Meta-Analysis (33%), and Case Report / Case Series (11%).

Recent Publications

Dou K (2026). [PMID: 41805567](https://pubmed.ncbi.nlm.nih.gov/41805567/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Alghamdi M (2026). [PMID: 41818954](https://pubmed.ncbi.nlm.nih.gov/41818954/). *Mol Genet Metab*. [Basic Science / Preclinical]
Li S (2026). [PMID: 41909124](https://pubmed.ncbi.nlm.nih.gov/41909124/). *Front Cell Dev Biol*. [Basic Science / Preclinical]
Dong H (2025). [PMID: 39878121](https://pubmed.ncbi.nlm.nih.gov/39878121/). *Autophagy*. [Basic Science / Preclinical]
İpek R (2025). [PMID: 40014158](https://pubmed.ncbi.nlm.nih.gov/40014158/). *Neurogenetics*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619167

GARD

Genetic and Rare Diseases Info Center

GARD:16430

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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mitochondrial complex 2 deficiency, nuclear type 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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