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 10 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]
CHAT	OTEJWQ45	Supportive	Autosomal dominant	[6]
COL13A1	OTM9IM6J	Supportive	Autosomal dominant	[8]
MYO9A	OTE3XHKY	Supportive	Autosomal dominant	[9]
SLC18A3	OTAUUY4B	Supportive	Autosomal dominant	[3]
SLC25A1	OTIDXQ9F	Supportive	Autosomal dominant	[4]
SLC5A7	OTLZO8QS	Supportive	Autosomal dominant	[5]
SNAP25	OTUIQ81Q	Supportive	Autosomal dominant	[2]
SYT2	OTJYGTY4	Supportive	Autosomal dominant	[10]
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⏷ Show the Full List of 10 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.