Myasthenic Syndrome, Fast-channel Congenital malady

MalaCards: Myasthenic Syndrome, Fast-channel Congenital, also known as lambert-eaton myasthenic syndrome, is related to myasthenic syndrome and slow-channel congenital myasthenic syndrome. An important gene associated with Myasthenic Syndrome, Fast-channel Congenital is CHRND (cholinergic receptor, nicotinic, delta (muscle)), and among its related pathways are Highly sodium permeable acetylcholine nicotinic receptors and Calcium channels. The compound galantamine have been mentioned in the context of this disorder.

OMIM: 608930

myasthenic syndrome, fast-channel congenital 33 lambert-eaton myasthenic syndrome 43

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

(show all 20)

id	Related Disease	Score	Top Affiliating Genes
1	myasthenic syndrome	35.8	CHRND, CHRNE
2	slow-channel congenital myasthenic syndrome	31.1	CHRND, CHRNE
3	myasthenia gravis	30.6	CHRND, CHRNE
4	congenital myasthenic syndrome	30.3	CHRND, CHRNE
5	lambert-eaton myasthenic syndrome	12.3
6	ophthalmoplegia	12.2	CHRND, CHRNE
7	nicotine dependence	12.2	CHRNE, CHRND
8	ptosis	12.1	CHRND, CHRNE
9	hypotonia	12.1	CHRNE, CHRND
10	carcinoma	9.3
11	lung cancer	9.3
12	lung carcinoma	8.4
13	myasthenia	8.4
14	myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency	8.4
15	paraneoplastic cerebellar degeneration	8.4
16	paraneoplastic neurologic disorders	8.4
17	paraneoplastic syndromes	8.4
18	small cell carcinoma	8.4
19	congenital myasthenic syndrome associated with acetylcholine receptor deficiency	8.4
20	cerebellar degeneration	8.4

Clinical features from OMIM: 608930

Approved drugs:

Drug clinical trials:

Genes related to myasthenic syndrome, fast-channel congenital according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CHRND	cholinergic receptor, nicotinic, delta (muscle)	11.1
2	CHRNE	cholinergic receptor, nicotinic, epsilon (muscle)	11.1

Pathways related to myasthenic syndrome, fast-channel congenital according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Highly sodium permeable acetylcholine nicotinic receptors38	9.2	CHRNE, CHRND
2	Calcium channels10	9.1	CHRNE, CHRND
3	Intracellular Calcium Signaling36	9.1	CHRNE, CHRND
4	Neuroactive ligand-receptor interaction20	9.0	CHRNE, CHRND
5	eNOS Signaling36	8.8	CHRNE, CHRND

Compounds related to myasthenic syndrome, fast-channel congenital according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	galantamine32 34 9 9	12.1	CHRND, CHRNE

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

id	Name	GO ID	Score	Top Affiliating Genes
1	cell junction	GO:030054	9.1	CHRND, CHRNE
2	acetylcholine-gated channel complex	GO:005892	9.0	CHRND, CHRNE
3	postsynaptic membrane	GO:045211	8.8	CHRND, CHRNE

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

id	Name	GO ID	Score	Top Affiliating Genes
1	regulation of membrane potential	GO:042391	9.1	CHRND, CHRNE
2	synaptic transmission	GO:007268	9.1	CHRND, CHRNE
3	muscle contraction	GO:006936	9.0	CHRND, CHRNE
4	transport	GO:006810	8.8	CHRND, CHRNE

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

id	Name	GO ID	Score	Top Affiliating Genes
1	acetylcholine-activated cation-selective channel activity	GO:004889	9.1	CHRND, CHRNE