Details of Disease

General Information of Disease (ID: DISFU9PF)

• Disease Name: Congenital myasthenic syndrome 12
• Synonyms: myasthenic syndrome, congenital, with tubular aggregates 1; myasthenic syndrome, congenital, 12; congenital myasthenic syndrome type 12; congenital myasthenia 12 with tubular aggregates; congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1; myasthenia, congenital, 12, with tubular aggregates; GFPT1 congenital myasthenic syndromes with glycosylation defect; myasthenic syndrome, congenital, type 12; CMS12
• Definition: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
• Disease Hierarchy:
  DISSMM4V: Congenital myasthenic syndrome with tubular aggregates
  DISFU9PF: Congenital myasthenic syndrome 12
• Disease Identifiers:
  MONDO ID: MONDO_0012518
  UMLS CUI: C3552335
  OMIM ID: 610542
  MedGen ID: 765249

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
GFPT1	OTQBDO45	Definitive	Autosomal recessive	[1]

References

• [1] Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008.