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mitochondrial complex 2 deficiency, nuclear type 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex 2 deficiency, nuclear type 4

MONDO:0030974

Also known as:MC2DN4SDHB-related Nuclear type mitocondrial complex II deficiencymitochondrial complex II deficiency, nuclear type 4

Overview

An autosomal recessive disorder due to pathogenic variants in the SDHB gene, resulting in Mitochondrial complex II deficiency and a variety of clinical manifestations, including neurological and muscular symptoms.

GeneticsAutosomal recessive · SDHB (chr 1)

ResearchLimited published research (6 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: Poor head control, Flexion contracture, Low muscle tone (hypotonia), and Elevated brain lactate level by MRS and others; and very common findings: Axial hypotonia and Spasticity. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Dystonia, Elevated brain lactate level by MRS, Ataxia

Genetic Landscape

SDHB function has not been fully characterized.

Mitochondrial complex 2 deficiency, nuclear type 4 is associated with mutations in the SDHB gene on chromosome 1.

Diagnosis

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

Prognosis

Phenotype severity distribution: 18 always present features, 2 very common features, 2 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 mitochondrial complex 2 deficiency, nuclear type 4.

6 publications have been identified in PubMed for mitochondrial complex 2 deficiency, nuclear type 4. Research spans Basic Science / Preclinical (67%), Other (17%), and Case Report / Case Series (17%).

Recent Publications

Sillapachaiyaporn C (2026). [PMID: 41555429](https://pubmed.ncbi.nlm.nih.gov/41555429/). *Cell Commun Signal*. [Basic Science / Preclinical]
Alghamdi M (2026). [PMID: 41818954](https://pubmed.ncbi.nlm.nih.gov/41818954/). *Mol Genet Metab*. [Basic Science / Preclinical]
Yang Q (2026). [PMID: 41982415](https://pubmed.ncbi.nlm.nih.gov/41982415/). *Front Neurol*. [Case Report / Case Series]
Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]
Wu A (2024). [PMID: 39181476](https://pubmed.ncbi.nlm.nih.gov/39181476/). *Biochim Biophys Acta Gen Subj*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:11 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619224

GARD

Genetic and Rare Diseases Info Center

GARD:16438

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 4

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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