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Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
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congenital myasthenic syndrome 14

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.

Synonyms

  • ALG2 congenital myasthenic syndromes with glycosylation defect
  • CMS14
  • CMSTA3
  • congenital myasthenic syndrome 14
  • congenital myasthenic syndrome 14, with tubular aggregates
  • congenital myasthenic syndrome type 14
  • congenital myasthenic syndrome with tubular aggregates 3
  • congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2
  • myasthenic syndrome, congenital, 14
  • myasthenic syndrome, congenital, 14, with tubular aggregates
  • myasthenic syndrome, congenital, type 14
  • myasthenic syndrome, congenital, with tubular aggregates 3
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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