General Information of Disease (ID: DISL15RW)

Disease Name Congenital myasthenic syndrome 3C
Synonyms
CMS3C; myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; congenital myasthenic syndrome type 3C; congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.
Disease Hierarchy
DIS92VN2: Postsynaptic congenital myasthenic syndrome
DISL15RW: Congenital myasthenic syndrome 3C
Disease Identifiers
MONDO ID
MONDO_0014585
UMLS CUI
C4225370
OMIM ID
616323
MedGen ID
903088

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.