Details of Disease

General Information of Disease (ID: DIS8C9AF)

• Disease Name: Congenital myasthenic syndrome 13
• Synonyms: myasthenic syndrome, congenital, 13; myasthenic syndrome, congenital, with tubular aggregates 2; congenital myasthenic syndrome type 13; CMSTA2; congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1; CMS13; congenital myasthenic syndrome 13 with tubular aggregates; congenital myasthenic syndrome with tubular aggregates 2; DPAGT1 congenital myasthenic syndromes with glycosylation defect; myasthenic syndrome, congenital, type 13; myasthenic syndrome, congenital, 13, with tubular aggregates
• Definition: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene.
• Disease Hierarchy:
  DISSMM4V: Congenital myasthenic syndrome with tubular aggregates
  DIS8C9AF: Congenital myasthenic syndrome 13
• Disease Identifiers:
  MONDO ID: MONDO_0013883
  UMLS CUI: C3553645
  OMIM ID: 614750
  MedGen ID: 766559

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
DPAGT1	OTYEJAGZ	Definitive	Autosomal recessive	[1]

References

• [1] Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet. 2012 Jul 13;91(1):193-201. doi: 10.1016/j.ajhg.2012.05.022. Epub 2012 Jun 27.