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congenital myasthenic syndrome 5

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

Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.

Synonyms

  • CMS Ic
  • CMS5
  • COLQ congenital myasthenic syndrome
  • Cms Ic
  • Cms Ic, formerly
  • EAD
  • Engel congenital myasthenic syndrome
  • congenital myasthenic syndrome 5
  • congenital myasthenic syndrome Engel type
  • congenital myasthenic syndrome caused by mutation in COLQ
  • congenital myasthenic syndrome type 5
  • congenital myasthenic syndrome type Ic
  • congenital myasthenic syndrome type Ic, formerly
  • end plate acetylcholinesterase deficiency
  • endplate acetylcholinesterase deficiency
  • myasthenic syndrome, congenital, 5
  • myasthenic syndrome, congenital, Engel type
  • myasthenic syndrome, congenital, type 5
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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