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multiple mitochondrial dysfunctions syndrome 6 (MMDS6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple mitochondrial dysfunctions syndrome 6

MONDO:0054785

Also known as:MMDS6PMPCB deficiencymultiple mitochondrial dysfunctions syndrome type 6

Overview

GeneticsAutosomal recessive · PMPCB (chr 7)

ResearchLimited published research (2 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: Inability to walk, Absent speech, Loss of previously acquired skills (developmental regression), and Global developmental delay; and very common findings: Seizure and Low muscle tone (hypotonia). 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Inability to walk, Dystonia, Seizure

Genetic Landscape

PMPCB function has not been fully characterized.

Multiple mitochondrial dysfunctions syndrome 6 is associated with mutations in the PMPCB gene on chromosome 7.

Diagnosis

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

Prognosis

Phenotype severity distribution: 4 always present features, 2 very common features, 7 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 multiple mitochondrial dysfunctions syndrome 6.

2 publications have been identified in PubMed for multiple mitochondrial dysfunctions syndrome 6. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Jing Y (2026). [PMID: 41999531](https://pubmed.ncbi.nlm.nih.gov/41999531/). *Mol Neurobiol*. [Basic Science / Preclinical]
Xu H (2024). [PMID: 38923322](https://pubmed.ncbi.nlm.nih.gov/38923322/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617954

Orphanet

European rare disease database

Orphanet:569290

GARD

Genetic and Rare Diseases Info Center

GARD:18004

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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multiple mitochondrial dysfunctions syndrome 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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