Details of Disease

General Information of Disease (ID: DISICPPN)

• Disease Name: Congenital myasthenic syndrome 8
• Synonyms: myasthenic syndrome, congenital, with Pre- and postsynaptic defects; myasthenic syndrome, congenital, 8; myasthenic syndrome, congenital, due to agrin deficiency; CMS8; congenital myasthenic syndrome 8; congenital myasthenic syndrome type 8; congenital myasthenic syndrome caused by mutation in AGRN; myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects; congenital myasthenic syndrome 8 with pre- and postsynaptic defects; congenital myasthenic syndrome due to agrin deficiency; AGRN congenital myasthenic syndrome; myasthenic syndrome, congenital, type 8
• Definition: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene.
• Disease Hierarchy:
  DIS92VN2: Postsynaptic congenital myasthenic syndrome
  DISJLG2T: Congenital myasthenic syndrome
  DISICPPN: Congenital myasthenic syndrome 8
• Disease Identifiers:
  MONDO ID: MONDO_0014052
  UMLS CUI: C3808739
  OMIM ID: 615120
  MedGen ID: 815069

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
AGRN	OTWJENAZ	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.