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mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

MONDO:0044714

Also known as:mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndromeMMYATmyopathy, mitochondrial, and ataxia

Overview

GeneticsAutosomal recessive, Autosomal dominant · MSTO1 (chr 1)

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 common findings: Mild intellectual disability, Hearing loss (hearing impairment), Dysmetria, and Short stature and others; and sometimes findings: Schizophrenia and Autistic behavior. 59 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	14	Inability to walk, Mild intellectual disability, Ataxia

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.

MSTO1 encodes misato mitochondrial distribution and morphology regulator 1 (570 aa). Involved in the regulation of mitochondrial distribution and morphology. Required for mitochondrial fusion and mitochondrial network formation Highest expression in Testis (35.2 TPM) and Nerve Tibial (17.4 TPM).

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome is associated with mutations in the MSTO1 gene on chromosome 1.

MSTO1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MSTO1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 43 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 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome.

88 publications have been identified in PubMed for mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome. Research spans Case Report / Case Series (34%), Basic Science / Preclinical (34%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Patient case studies	30	34%

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 4:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617675

Orphanet

European rare disease database

Orphanet:502423

GARD

Genetic and Rare Diseases Info Center

GARD:17934

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

mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications