Details of Disease | DrugMAP

General Information of Disease (ID: DIS92VN2)

Disease Name	Postsynaptic congenital myasthenic syndrome
Synonyms	postsynaptic congenital myasthenic syndromes
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISJLG2T: Congenital myasthenic syndrome DIS92VN2: Postsynaptic congenital myasthenic syndrome
Disease Identifiers	MONDO ID MONDO_0020344 MESH ID D020294 UMLS CUI C0751883 MedGen ID 199758 Orphanet ID 98913

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CHRNA1	TT54JVQ	Supportive	Autosomal recessive	[1]
MUSK	TT6SA0X	Supportive	Autosomal recessive	[1]
SCN4A	TT84DRB	Strong	Biomarker	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN4A	DT7SZIQ	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AGRN	OTWJENAZ	Supportive	Autosomal recessive	[3]
AK9	OTWYT1VS	Supportive	Autosomal recessive	[4]
CHRNA1	OT2Z2TCB	Supportive	Autosomal recessive	[1]
CHRNB1	OTTJXD24	Supportive	Autosomal recessive	[1]
CHRND	OTLUUP7C	Supportive	Autosomal recessive	[1]
CHRNE	OTGGXGGB	Supportive	Autosomal recessive	[1]
COL13A1	OTM9IM6J	Supportive	Autosomal recessive	[5]
DOK7	OTR2V7HO	Supportive	Autosomal recessive	[1]
LRP4	OTO4M459	Supportive	Autosomal recessive	[6]
MUSK	OTERKP1U	Supportive	Autosomal recessive	[1]
RAPSN	OTGMSWDQ	Supportive	Autosomal recessive	[1]
SCN4A	OT0MYDHC	Supportive	Autosomal recessive	[1]
GFPT1	OTQBDO45	moderate	Biomarker	[7]
CHRNG	OTXC2UR7	Strong	Biomarker	[8]
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⏷ Show the Full List of 14 DOT(s)

References

1	Congenital Myasthenic Syndromes Overview. 2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2	Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. doi: 10.1073/pnas.1230273100. Epub 2003 May 23.
3	LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. Hum Genet. 2012 Jul;131(7):1123-35. doi: 10.1007/s00439-011-1132-4. Epub 2011 Dec 29.
4	Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations. Eur J Hum Genet. 2017 Feb;25(2):192-199. doi: 10.1038/ejhg.2016.162. Epub 2016 Dec 14.
5	Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII 1 Chain. Am J Hum Genet. 2015 Dec 3;97(6):878-85. doi: 10.1016/j.ajhg.2015.10.017. Epub 2015 Nov 25.
6	LRP4 third -propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner. Hum Mol Genet. 2014 Apr 1;23(7):1856-68. doi: 10.1093/hmg/ddt578. Epub 2013 Nov 13.
7	GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.Hum Mol Genet. 2018 Sep 15;27(18):3218-3232. doi: 10.1093/hmg/ddy225.
8	Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet. 2006 Aug;79(2):303-12. doi: 10.1086/506257. Epub 2006 Jun 20.