Endplate Acetylcholinesterase Deficiency malady

MalaCards: Endplate Acetylcholinesterase Deficiency, also known as endplate acetylcholinesterase deficiency (disorder), is related to myasthenic syndrome and vascular dementia. An important gene associated with Endplate Acetylcholinesterase Deficiency is COLQ (collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase).

OMIM: 603034

endplate acetylcholinesterase deficiency 7 33 32 endplate acetylcholinesterase deficiency (disorder) 43

Diseases related to endplate acetylcholinesterase deficiency by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	myasthenic syndrome	12.2	COLQ, ACHE
2	vascular dementia	12.1	ACHE, COLQ
3	multiple sclerosis	12.1	COLQ, ACHE
4	congenital myasthenic syndrome	12.0	COLQ, ACHE
5	dementia	11.8	COLQ, ACHE
6	schwartz-jampel syndrome	7.5

Clinical features from OMIM: 603034

Approved drugs:

Drug clinical trials:

Articles related to endplate acetylcholinesterase deficiency:

id	Title	Authors	Year	Affiliating Genes
1	Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. (18647752)	Stum M.... Nicole S.	2008	ACHE
2	Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. (16009904)	Bestue-Cardiel M.... Engel A.G.	2005	ACHE
3	Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. (12609505)	Ishigaki K.... Hantai D.	2003	ACHE, COLQ
4	Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme. (9689136)	Ohno K.... Engel A.G.	1998	ACHE, COLQ
5	Treatment of congenital endplate acetylcholinesterase deficiency by neuromuscular blockade. (8807428)	Breningstall G.N.... Engel A.G.	1996	ACHE
6	Congenital endplate acetylcholinesterase deficiency. (8390325)	Hutchinson D.O.... Engel A.G.	1993	ACHE

Genes related to endplate acetylcholinesterase deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	COLQ	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	11.1	Publications, Summaries
2	ACHE	acetylcholinesterase	11.1	Publications

Cellular components related to endplate acetylcholinesterase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cell junction	GO:030054	9.1	COLQ, ACHE
2	synaptic cleft	GO:043083	9.0	COLQ, ACHE
3	basal lamina	GO:005605	8.8	COLQ, ACHE

Biological processes related to endplate acetylcholinesterase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	acetylcholine catabolic process in synaptic cleft	GO:001507	9.1	COLQ, ACHE