Details of Disease

General Information of Disease (ID: DISWUJS0)

• Disease Name: Congenital myasthenic syndrome 4C
• Synonyms: Cms Id; myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency; myasthenia, familial infantile, 1; myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency; myasthenia, familial infantile, 1, formerly; congenital myasthenic syndrome associated with acetylcholine receptor deficiency; myasthenic syndrome, congenital, type Id; Cms Id, formerly; congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency; CMS1D; CMS4C; congenital myasthenic syndrome type 4C; familial infantile myasthenia 1; FIM1; congenital myasthenic syndrome type Id; CMS Id
• Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
• Disease Hierarchy:
  DIS92VN2: Postsynaptic congenital myasthenic syndrome
  DISJLG2T: Congenital myasthenic syndrome
  DISWUJS0: Congenital myasthenic syndrome 4C
• Disease Identifiers:
  MONDO ID: MONDO_0012157
  MESH ID: C536090
  UMLS CUI: C1837091
  OMIM ID: 608931
  MedGen ID: 373251

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHRNE	OTGGXGGB	Strong	Autosomal recessive	[1]
RAPSN	OTGMSWDQ	Strong	CausalMutation	[2]

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.
• [2] Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.Muscle Nerve. 2011 Apr;43(4):574-7. doi: 10.1002/mus.21919. Epub 2011 Feb 8.