Details of Disease | DrugMAP

General Information of Disease (ID: DISOANDX)

Disease Name	Myasthenic syndrome, congenital, 1B, fast-channel
Synonyms	myasthenic syndrome, congenital, 1B, FAST-channel; congenital myasthenic syndrome 1B; myasthenic syndrome, congenital, 1B, fast-channel; CMS1B; congenital myasthenic syndrome type 1B; congenital myasthenic syndrome 1B, fast-channel
Definition	A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.
Disease Hierarchy	DIS4PQM3: Congenital myasthenic syndrome 1A DISOANDX: Myasthenic syndrome, congenital, 1B, fast-channel
Disease Identifiers	MONDO ID MONDO_0012156 UMLS CUI C4225405 OMIM ID 608930 MedGen ID 909200

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CHRNA1	TT54JVQ	Strong	Autosomal dominant	[1]
CHRNA1	TT54JVQ	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHRNA1	OT2Z2TCB	Strong	Autosomal dominant	[1]
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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	Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.Neurology. 2004 Apr 13;62(7):1090-6. doi: 10.1212/01.wnl.0000118205.99701.41.