Slow-channel Congenital Myasthenic Syndrome malady

MalaCards: Slow-channel Congenital Myasthenic Syndrome, also known as SCCMS, is related to myasthenic syndrome and congenital myasthenic syndrome. An important gene associated with Slow-channel Congenital Myasthenic Syndrome is CHRNB1 (cholinergic receptor, nicotinic, beta 1 (muscle)), and among its related pathways are Highly sodium permeable acetylcholine nicotinic receptors and Calcium channels. The compounds (+-)-anatoxin a fumarate and mecamylamine hydrochloride have been mentioned in the context of this disorder.

OMIM: 601462

slow-channel congenital myasthenic syndrome 30 sccms 30 32 myasthenic syndrome, congenital, postsynaptic slow-channel 30 myasthenic syndromes, congenital, slow channel 43 myasthenic syndrome, congenital, slow-channel 30 myasthenic syndrome, slow-channel congenital 33

slow channel congenital myasthenic syndrome 30 myasthenic syndrome, congenital, type iia 30 lambert-eaton myasthenic syndrome 43 cms iia 30 cms2a 30

Diseases related to slow-channel congenital myasthenic syndrome by text searches and GeneDecks gene sharing:

(show all 25)

id	Related Disease	Score	Top Affiliating Genes
1	myasthenic syndrome	32.6	CHRND, CHRNE, CHRNB1
2	congenital myasthenic syndrome	32.3	CHRND, CHRNB1, CHRNE
3	congenital myasthenic syndrome associated with acetylcholine receptor deficiency	31.4	CHRNE, CHRNB1
4	myasthenic syndrome, fast-channel congenital	31.0	CHRNE, CHRND
5	myasthenia gravis	30.6	CHRNE, CHRND
6	lambert-eaton myasthenic syndrome	12.3
7	cystic lymphangioma	12.1	CHRNB1, CHRND
8	lymphangioma	12.0	CHRND, CHRNB1
9	multiple pterygium syndrome escobar type	11.8	CHRND, CHRNB1
10	ophthalmoplegia	11.8	CHRNE, CHRND, CHRNB1
11	nicotine dependence	11.7	CHRNE, CHRNB1, CHRND
12	ptosis	11.7	CHRND, CHRNE, CHRNB1
13	hypotonia	11.6	CHRNB1, CHRNE, CHRND
14	carcinoma	9.3
15	lung cancer	9.3
16	cerebellar degeneration	8.4
17	lung carcinoma	8.4
18	myasthenia	8.4
19	myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency	8.4
20	paraneoplastic cerebellar degeneration	8.4
21	paraneoplastic neurologic disorders	8.4
22	paraneoplastic syndromes	8.4
23	small cell carcinoma	8.4
24	congenital myasthenic syndrome with episodic apnea	5.4
25	microphthalmia	5.4

Clinical features from OMIM: 601462

Approved drugs:

Drug clinical trials:

Articles related to slow-channel congenital myasthenic syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. (12141316)	Croxen R.... Beeson D.	2002	CHRNE
2	Quinidine sulfate therapy for the slow-channel congenital myasthenic syndrome. (9546329)	Harper C.M.... Engel A.G.	1998	CHRNA1
3	Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. (9158151)	Croxen R.... Newsom-Davis J.	1997	CHRNA1
4	New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. (8872460)	Engel A.G.... Sine S.M.	1996	CHRND, CHRNA1, CHRNB1

Genes related to slow-channel congenital myasthenic syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CHRNB1	cholinergic receptor, nicotinic, beta 1 (muscle)	11.1	Publications, Summaries
2	CHRNE	cholinergic receptor, nicotinic, epsilon (muscle)	11.1	Publications
3	CHRND	cholinergic receptor, nicotinic, delta (muscle)	11.1	Publications
4	CHRNA1	cholinergic receptor, nicotinic, alpha 1 (muscle)	10.4	Publications

Pathways related to slow-channel congenital myasthenic syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Highly sodium permeable acetylcholine nicotinic receptors38	8.9	CHRNE, CHRND
2	Calcium channels10	8.5	CHRNE, CHRNB1, CHRND
3	eNOS Signaling36	8.5	CHRNE, CHRNB1, CHRND
4	Neuroactive ligand-receptor interaction20	8.2	CHRNE, CHRNB1, CHRND

Compounds related to slow-channel congenital myasthenic syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	(+-)-anatoxin a fumarate42	9.3	CHRNB1, CHRNE
2	mecamylamine hydrochloride42	9.2	CHRNB1, CHRNE
3	alpha-conotoxin ei42	9.1	CHRND, CHRNB1
4	(+-)-epibatidine42	9.0	CHRNE, CHRNB1
5	galantamine32 34 9 9	11.1	CHRND, CHRNA1, CHRNB1, CHRNE

Cellular components related to slow-channel congenital myasthenic syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cell junction	GO:030054	8.0	CHRNE, CHRNA1, CHRND, CHRNB1
2	acetylcholine-gated channel complex	GO:005892	7.9	CHRND, CHRNA1, CHRNB1, CHRNE
3	postsynaptic membrane	GO:045211	7.7	CHRNB1, CHRNA1, CHRND, CHRNE

Biological processes related to slow-channel congenital myasthenic syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	synaptic transmission, cholinergic	GO:007271	9.3	CHRNE, CHRNB1
2	cation transport	GO:006812	9.2	CHRNE, CHRNB1
3	transport	GO:006810	9.0	CHRNE, CHRND
4	regulation of membrane potential	GO:042391	8.6	CHRNE, CHRNB1, CHRND
5	muscle contraction	GO:006936	8.6	CHRNE, CHRNB1, CHRND
6	signal transduction	GO:007165	8.2	CHRNE, CHRNB1, CHRND

Molecular functions related to slow-channel congenital myasthenic syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	acetylcholine binding	GO:042166	9.1	CHRND, CHRNB1
2	acetylcholine receptor activity	GO:015464	9.0	CHRNB1, CHRNE
3	acetylcholine-activated cation-selective channel activity	GO:004889	8.4	CHRND, CHRNB1, CHRNE