Details of Disease | DrugMAP

General Information of Disease (ID: DISCENXT)

Disease Name	Congenital myasthenic syndrome 3B
Synonyms	myasthenic syndrome, congenital, 3B, FAST-channel; CMS3B; congenital myasthenic syndrome type 3B; congenital myasthenic syndrome 3B, fast-channel
Definition	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.
Disease Hierarchy	DIS92VN2: Postsynaptic congenital myasthenic syndrome DISCENXT: Congenital myasthenic syndrome 3B
Disease Identifiers	MONDO ID MONDO_0014584 UMLS CUI C4225371 OMIM ID 616322 MedGen ID 909404

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 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.