Details of Disease

General Information of Disease (ID: DISUTJ3P)

• Disease Name: Congenital myasthenic syndrome 16
• Synonyms: myasthenic syndrome, congenital, Acetazolamide-responsive; myasthenic syndrome, congenital, 16; myasthenic syndrome, congenital, type 16; congenital myasthenic syndrome type 16; congenital myasthenic syndrome acetazolamide-responsive; SCN4A congenital myasthenic syndrome; CMS16; congenital myasthenic syndrome caused by mutation in SCN4A
• Definition: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.
• Disease Hierarchy:
  DIS92VN2: Postsynaptic congenital myasthenic syndrome
  DISJLG2T: Congenital myasthenic syndrome
  DIS9M11B: SCN4A-related myopathy, autosomal recessive
  DISUTJ3P: Congenital myasthenic syndrome 16
• Disease Identifiers:
  MONDO ID: MONDO_0013620
  UMLS CUI: C3280112
  OMIM ID: 614198
  MedGen ID: 481742

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SCN4A	TT84DRB	Strong	Genetic Variation	[1]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN4A	DT7SZIQ	Strong	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCN4A	OT0MYDHC	Strong	Autosomal recessive	[2]

References

• [1] A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.Neurology. 2016 Jan 12;86(2):161-9. doi: 10.1212/WNL.0000000000002264. Epub 2015 Dec 11.
• [2] 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.