Details of Disease | DrugMAP

General Information of Disease (ID: DISCEFP2)

Disease Name	Congenital myasthenic syndrome 3A
Synonyms	myasthenic syndrome, congenital, 3A, slow-channel; congenital myasthenic syndrome 3A, slow-channel; CMS3A; congenital myasthenic syndrome type 3A
Definition	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.
Disease Hierarchy	DIS92VN2: Postsynaptic congenital myasthenic syndrome DISCEFP2: Congenital myasthenic syndrome 3A
Disease Identifiers	MONDO ID MONDO_0014583 UMLS CUI C4225372 OMIM ID 616321 MedGen ID 898378

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
CHRND	OTLUUP7C	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.