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multiple mitochondrial dysfunctions syndrome 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple mitochondrial dysfunctions syndrome 7

MONDO:0957382

Overview

GeneticsAutosomal recessive · GCSH (chr 16)

ResearchLimited published research (7 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: Lethargy, Exaggerated startle response, Decreased liver function, and Dystonia and others; and very common findings: Low muscle tone (hypotonia). 51 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	18	Exaggerated startle response, Dystonia, Seizure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GCSH encodes glycine cleavage system protein H (173 aa). The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST). Highest expression in Brain Spinal cord cervical c-1 (20.7 TPM) and Thyroid (17.5 TPM).

Multiple mitochondrial dysfunctions syndrome 7 is caused by mutations in the GCSH gene on chromosome 16.

The GCSH protein participates in LIPT2 transfers octanoyl group to GCSH, LIAS synthesizes lipoyl-GCSH, and LIPT1 transfers lipoyl group from lipoyl-GCSH to DLAT pathways.

GCSH is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 48 always present features, 1 very common feature, 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 multiple mitochondrial dysfunctions syndrome 7.

7 publications have been identified in PubMed for multiple mitochondrial dysfunctions syndrome 7. Research spans Review / Meta-Analysis (57%), Basic Science / Preclinical (29%), and Epidemiology / Natural History (14%).

Recent Publications

Jiang H (2025). [PMID: 39227420](https://pubmed.ncbi.nlm.nih.gov/39227420/). *Journal of human genetics*. [Epidemiology / Natural History]
Hu Z (2025). [PMID: 41337580](https://pubmed.ncbi.nlm.nih.gov/41337580/). *Sci Adv*. [Basic Science / Preclinical]
Cappuccio G (2025). [PMID: 41497664](https://pubmed.ncbi.nlm.nih.gov/41497664/). *bioRxiv*. [Basic Science / Preclinical]
Lu Y (2025). [PMID: 41260099](https://pubmed.ncbi.nlm.nih.gov/41260099/). *Redox Biol*. [Review / Meta-Analysis]
Ijaz A (2025). [PMID: 40790757](https://pubmed.ncbi.nlm.nih.gov/40790757/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]

Data assembled from 6 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:620423

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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Kisho

multiple mitochondrial dysfunctions syndrome 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature.

multiple mitochondrial dysfunctions syndrome 7

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature.