Details of Disease

General Information of Disease (ID: DIS41Z0P)

• Disease Name: Congenital myasthenic syndrome 15
• Synonyms: myasthenic syndrome, congenital, 15; myasthenic syndrome, congenital, without tubular aggregates; CMS15; ALG14 congenital myasthenic syndrome; myasthenic syndrome, congenital, type 15; congenital myasthenic syndrome type 15; myasthenic syndrome, congenital, 15, without tubular aggregates; congenital myasthenic syndrome 15 without tubular aggregates; congenital myasthenic syndrome caused by mutation in ALG14
• Definition: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 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:
  DIS2BIP8: Congenital nervous system disorder
  DISJLG2T: Congenital myasthenic syndrome
  DIS41Z0P: Congenital myasthenic syndrome 15
• Disease Identifiers:
  MONDO ID: MONDO_0014542
  UMLS CUI: C4015596
  OMIM ID: 616227
  MedGen ID: 864033

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
ALG14	OTBM7K28	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.