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congenital myasthenic syndrome 19 (CMS19) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myasthenic syndrome 19

MONDO:0014745

Also known as:CMS19COL13A1 congenital myasthenic syndromecongenital myasthenic syndrome caused by mutation in COL13A1

Overview

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.

GeneticsAutosomal recessive · COL13A1 (chr 10)

ResearchLimited published research (3 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: Recurrent lower respiratory tract infections, Distal muscle weakness, High palate, and Axial muscle weakness and others; and common findings: Poor head control, Facial palsy, Barrel-shaped chest, and Distal joint hypermobility and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Low muscle tone (hypotonia), Distal muscle weakness, Generalized hypotonia

Genetic Landscape

COL13A1 function has not been fully characterized.

Congenital myasthenic syndrome 19 is associated with mutations in the COL13A1 gene on chromosome 10.

Diagnosis

Genetic testing for COL13A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present features, 14 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 congenital myasthenic syndrome 19.

3 publications have been identified in PubMed for congenital myasthenic syndrome 19. Research spans Review / Meta-Analysis (67%) and Other (33%).

Recent Publications

Takhman M (2025). [PMID: 41382066](https://pubmed.ncbi.nlm.nih.gov/41382066/). *BMC Neurol*. [Review / Meta-Analysis]
Ohno K (2025). [PMID: 40533459](https://pubmed.ncbi.nlm.nih.gov/40533459/). *J Hum Genet*. [Review / Meta-Analysis]
Kurtovic-Kozaric A (2024). [PMID: 39720176](https://pubmed.ncbi.nlm.nih.gov/39720176/). *Front Genet*. [Other]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616720

GARD

Genetic and Rare Diseases Info Center

GARD:16153

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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congenital myasthenic syndrome 19

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

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