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myasthenic syndrome, congenital, 25, presynaptic - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myasthenic syndrome, congenital, 25, presynaptic

MONDO:0032675

Also known as:myasthenic syndrome, congenital, 25CMS25

Overview

GeneticsAutosomal recessive · VAMP1 (chr 12)

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, Low muscle tone (hypotonia), Motor delay, and Delayed ability to sit and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Flexion contracture, Myopathy, Severe muscular hypotonia

Genetic Landscape

VAMP1 function has not been fully characterized.

Myasthenic syndrome, congenital, 25, presynaptic is associated with mutations in the VAMP1 gene on chromosome 12.

Diagnosis

Genetic testing for VAMP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myasthenic syndrome, congenital, 25, presynaptic has been reported in the published literature.

Prognosis

Phenotype severity distribution: 11 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 myasthenic syndrome, congenital, 25, presynaptic.

13 publications have been identified in PubMed for myasthenic syndrome, congenital, 25, presynaptic. Research spans Case Report / Case Series (38%), Review / Meta-Analysis (23%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Patient case studies	5	38%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:09 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618323

GARD

Genetic and Rare Diseases Info Center

GARD:16341

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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myasthenic syndrome, congenital, 25, presynaptic

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

myasthenic syndrome, congenital, 25, presynaptic

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications