Details of Disease | DrugMAP

General Information of Disease (ID: DISAWB4G)

Disease Name	Congenital myasthenic syndrome 4B
Synonyms	myasthenic syndrome, congenital, 4B, FAST-channel; CMS4B; congenital myasthenic syndrome type 4B; congenital myasthenic syndrome 4B fast-channel
Definition	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
Disease Hierarchy	DIS92VN2: Postsynaptic congenital myasthenic syndrome DISAWB4G: Congenital myasthenic syndrome 4B
Disease Identifiers	MONDO ID MONDO_0014586 UMLS CUI C4225369 OMIM ID 616324 MedGen ID 904424

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHRNE	OTGGXGGB	Strong	Autosomal recessive	[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.