Details of Disease

General Information of Disease (ID: DISO8ZXF)

• Disease Name: Congenital myasthenic syndrome 4A
• Synonyms: congenital myasthenic syndrome type Ia1, formerly; myasthenic syndrome, congenital, 4A, slow-channel; congenital myasthenic syndrome type Ia1; Cms Ia1, formerly; Cms Ia1; congenital myasthenic syndrome type 4A; congenital myasthenic syndrometype Ia1; CMS Ia1; congenital myasthenic syndrome 4A slow-channel; CMS4A; CMS1A1
• Definition: A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
• Disease Hierarchy:
  DIS92VN2: Postsynaptic congenital myasthenic syndrome
  DISO8ZXF: Congenital myasthenic syndrome 4A
• Disease Identifiers:
  MONDO ID: MONDO_0011600
  UMLS CUI: C4225413
  OMIM ID: 605809
  MedGen ID: 908188

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
C17orf107	OTOU43J4	moderate	CausalMutation	[1]
CHRNE	OTGGXGGB	Strong	Autosomal dominant	[2]

References

• [1] A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family.Chin Med J (Engl). 2016 Nov 5;129(21):2596-2602. doi: 10.4103/0366-6999.192780.
• [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.