Details of Disease

General Information of Disease (ID: DIS5P72M)

• Disease Name: Congenital myasthenic syndrome 14
• Synonyms: myasthenic syndrome, congenital, 14; myasthenic syndrome, congenital, with tubular aggregates 3; congenital myasthenic syndrome with tubular aggregates 3; ALG2 congenital myasthenic syndromes with glycosylation defect; congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2; CMSTA3; CMS14; myasthenic syndrome, congenital, type 14; congenital myasthenic syndrome 14; congenital myasthenic syndrome 14, with tubular aggregates; myasthenic syndrome, congenital, 14, with tubular aggregates; congenital myasthenic syndrome type 14
• Definition: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene.
• Disease Hierarchy:
  DISIVO8V: ALG2-congenital disorder of glycosylation
  DISSMM4V: Congenital myasthenic syndrome with tubular aggregates
  DIS5P72M: Congenital myasthenic syndrome 14
• Disease Identifiers:
  MONDO ID: MONDO_0014543
  UMLS CUI: C4015597
  OMIM ID: 616228
  MedGen ID: 864034

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALG2	OT77B384	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.