Details of Disease

General Information of Disease (ID: DISCATK3)

Disease Name	Obsolete presynaptic congenital myasthenic syndrome
Synonyms	presynaptic congenital myasthenic syndromes
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISCATK3: Obsolete presynaptic congenital myasthenic syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VAMP1	OTMHZ1WP	Supportive	Autosomal dominant	[1]
AGRN	OTWJENAZ	Supportive	Autosomal dominant	[7]
COL13A1	OTM9IM6J	Supportive	Autosomal dominant	[8]
MYO9A	OTE3XHKY	Supportive	Autosomal dominant	[9]
SLC25A1	OTIDXQ9F	Supportive	Autosomal dominant	[4]
SYT2	OTJYGTY4	Supportive	Autosomal dominant	[10]
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⏷ Show the Full List of 6 DOT(s)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SNAP25	TTYQWA0	Supportive	Autosomal dominant	[2]
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This Disease Is Related to 3 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC18A3	DT3T2K0	Supportive	Autosomal dominant	[3]
SLC25A1	DTWU7OK	Supportive	Autosomal dominant	[4]
SLC5A7	DTWI9TE	Supportive	Autosomal dominant	[5]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHAT	DE5NGOW	Supportive	Autosomal dominant	[6]
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References

1	Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. Ann Neurol. 2017 Apr;81(4):597-603. doi: 10.1002/ana.24905. Epub 2017 Mar 29.
2	Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. Neurology. 2014 Dec 9;83(24):2247-55. doi: 10.1212/WNL.0000000000001079. Epub 2014 Nov 7.
3	Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology. 2016 Oct 4;87(14):1442-1448. doi: 10.1212/WNL.0000000000003179. Epub 2016 Sep 2.
4	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
5	Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25.
6	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.
7	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.
8	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.
9	Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain. 2016 Aug;139(Pt 8):2143-53. doi: 10.1093/brain/aww130. Epub 2016 Jun 3.
10	Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. Am J Hum Genet. 2014 Sep 4;95(3):332-9. doi: 10.1016/j.ajhg.2014.08.007.