Details of Disease | DrugMAP

General Information of Disease (ID: DIST46DD)

Disease Name	Congenital myasthenic syndrome 2C
Synonyms	myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency; congenital myasthenic syndrome type 2C; congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency; CMS2C
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 ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.
Disease Hierarchy	DIS92VN2: Postsynaptic congenital myasthenic syndrome DIST46DD: Congenital myasthenic syndrome 2C
Disease Identifiers	MONDO ID MONDO_0014582 UMLS CUI C4225373 OMIM ID 616314 MedGen ID 903254

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
CHRNB1	OTTJXD24	Definitive	Autosomal recessive	[1]
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References

1	CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum. Am J Med Genet A. 2021 Mar;185(3):827-835. doi: 10.1002/ajmg.a.62011. Epub 2020 Dec 9.