Details of Disease

General Information of Disease (ID: DISJRCI1)

Disease Name Congenital myasthenic syndrome 5
Synonyms
Cms Ic; myasthenic syndrome, congenital, Engel type; Cms Ic, formerly; congenital myasthenic syndrome type Ic, formerly; endplate acetylcholinesterase deficiency; myasthenic syndrome, congenital, 5; CMS Ic; EAD; congenital myasthenic syndrome Engel type; congenital myasthenic syndrome 5; myasthenic syndrome, congenital, type 5; congenital myasthenic syndrome type 5; CMS5; congenital myasthenic syndrome caused by mutation in COLQ; end plate acetylcholinesterase deficiency; Engel congenital myasthenic syndrome; COLQ congenital myasthenic syndrome; congenital myasthenic syndrome type Ic
Definition Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.
Disease Hierarchy
DISJLG2T: Congenital myasthenic syndrome
DISJRCI1: Congenital myasthenic syndrome 5
Disease Identifiers
MONDO ID
MONDO_0011281
MESH ID
C566415
UMLS CUI
C1864233
OMIM ID
603034
MedGen ID
400481

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
DHRS3 DEXPVUN Limited Biomarker [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COLQ OT4BHUGQ Strong Autosomal recessive [2]
DOK7 OTR2V7HO Definitive Biomarker [3]
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References

1 Induction of cell cycle arrest and inflammatory genes by combined treatment with epigenetic, differentiating, and chemotherapeutic agents in triple-negative breast cancer.Breast Cancer Res. 2018 Nov 28;20(1):145. doi: 10.1186/s13058-018-1068-x.
2 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.
3 Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia.Muscle Nerve. 2011 Nov;44(5):789-94. doi: 10.1002/mus.22176. Epub 2011 Sep 23.