Details of Disease

General Information of Disease (ID: DIS5KYRE)

• Disease Name: Congenital myasthenic syndrome 2A
• Synonyms: myasthenic syndrome, congenital, postsynaptic slow-channel; SCCMS; CMS IIa; myasthenic syndrome, congenital, 2A, slow-channel; myasthenic syndrome, congenital, slow-channel; myasthenic syndrome, congenital, type IIa; slow channel congenital myasthenic syndrome; CMS2A; congenital myasthenic syndrome type 2A; congenital myasthenic syndrome 2A slow-channel
• Definition: A congenital myasthenic syndrome characterized by autosomal dominant inheritance of 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 mutation in the CHRNB1 gene on chromosome 17p13.
• Disease Hierarchy:
  DIS92VN2: Postsynaptic congenital myasthenic syndrome
  DIS5KYRE: Congenital myasthenic syndrome 2A
• Disease Identifiers:
  MONDO ID: MONDO_0014581
  UMLS CUI: C4225374
  OMIM ID: 616313
  MedGen ID: 908185

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
CHRNB1	OTTJXD24	Definitive	Autosomal dominant	[1]

References

• [1] Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. Hum Mutat. 2016 Oct;37(10):1051-9. doi: 10.1002/humu.23043. Epub 2016 Aug 21.