MCID: MYS038
MIFTS: 39

Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency, Aliases & Descriptions:

Name: Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency 45 10 41 60
Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 41 22
Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency 45
 
Myasthenic Syndrome, Congenital, Postsynaptic, Associated with Acetylcholine Receptor Deficiency 41
Myasthenic Syndrome, Congenital, Type Id 41
Cms1d 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 608931

Summaries for Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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OMIM:45 Congenital myasthenic syndromes are genetic disorders of the neuromuscular junction and can be classified by the site... (608931) more...

MalaCards based summary: Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency, also known as congenital myasthenic syndrome associated with acetylcholine receptor deficiency, is related to congenital myasthenic syndrome and myasthenic syndrome, slow-channel congenital, and has symptoms including autosomal recessive inheritance, high palate and long face. An important gene associated with Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency is CHRNE (cholinergic receptor, nicotinic, epsilon (muscle)), and among its related pathways are Calcium channels and CREB Pathway. The compounds galantamine and potassium have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and respiratory system.

Related Diseases for Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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Diseases related to Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome10.1MUSK
2myasthenic syndrome, slow-channel congenital10.0CHRNE, CHRNB1
3myasthenia gravis9.8RAPSN, MUSK
4neuropathy9.7CHRNB1, CHRNE, RAPSN
5myopathy9.6RAPSN, CHRNE, CHRNB1

Graphical network of diseases related to Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency:



Diseases related to myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

Symptoms for Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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Symptoms by clinical synopsis from OMIM:

608931

Clinical features from OMIM:

608931

HPO human phenotypes related to Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency:

(show all 30)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 high palate HP:0000218
3 long face HP:0000276
4 mandibular prognathia HP:0000303
5 strabismus HP:0000486
6 ptosis HP:0000508
7 ophthalmoparesis HP:0000597
8 dental malocclusion HP:0000689
9 muscular hypotonia HP:0001252
10 dysarthria HP:0001260
11 motor delay HP:0001270
12 decreased fetal movement HP:0001558
13 weak cry HP:0001612
14 dysphagia HP:0002015
15 abnormality of the immune system HP:0002715
16 respiratory insufficiency due to muscle weakness HP:0002747
17 arthrogryposis multiplex congenita HP:0002804
18 decreased muscle mass HP:0003199
19 easy fatigability HP:0003388
20 gowers sign HP:0003391
21 muscle cramps HP:0003394
22 emg HP:0003403
23 decreased size of nerve terminals HP:0003443
24 fatigable weakness HP:0003473
25 type 2 muscle fiber atrophy HP:0003554
26 infantile onset HP:0003593
27 nonprogressive disorder HP:0003680
28 variable expressivity HP:0003828
29 facial palsy HP:0010628
30 feeding difficulties HP:0011968

Drugs & Therapeutics for Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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Drug clinical trials:

Search ClinicalTrials for Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency

Search NIH Clinical Center for Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency

Genetic Tests for Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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Genetic tests related to Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency:

id Genetic test Affiliating Genes
1 Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency22

Anatomical Context for Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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Animal Models for Myasthenic Syndrome, Congenital, Associated with Acetylcholine... or affiliated genes

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MGI Mouse Phenotypes related to Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.5RAPSN, CHRNE, MUSK
2MP:00053888.2MUSK, CHRNE, RAPSN
3MP:00036317.9RAPSN, CHRNE, CHRNB1, MUSK

Publications for Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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Variations for Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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UniProtKB/Swiss-Prot genetic disease variations for Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1CHRNEp.Arg167LeuVAR_000290
2CHRNEp.Pro265LeuVAR_000291
3CHRNEp.Arg331TrpVAR_000294
4MUSKp.Val790MetVAR_023046
5MUSKp.Met605IleVAR_066604
6MUSKp.Ala727ValVAR_066605
7RAPSNp.Leu14ProVAR_021216
8RAPSNp.Asn88LysVAR_021217rs104894299
9RAPSNp.Val45MetVAR_043898
10RAPSNp.Glu162LysVAR_043900
11RAPSNp.Arg164CysVAR_043901
12RAPSNp.Leu283ProVAR_043903

Clinvar genetic disease variations for Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency:

6 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000080.3(CHRNE): c.500G> T (p.Arg167Leu)single nucleotide variantPathogenicrs121909514GRCh37Chr 17, 4805227: 4805227
2NM_000080.3(CHRNE): c.250C> T (p.Arg84Ter)single nucleotide variantPathogenicrs121909513GRCh37Chr 17, 4805606: 4805606
3CHRNECHRNE, 1-BP DEL, 911TdeletionPathogenic
4CHRNECHRNE, IVS4DS, G-A, +1single nucleotide variantPathogenic
5CHRNECHRNE, 1-BP DEL, 1030CdeletionPathogenic
6CHRNECHRNE, 156C-Tsingle nucleotide variantPathogenic
7CHRNECHRNE, 1-BP DEL, 1267GdeletionPathogenic
8CHRNECHRNE, 1-BP INS, 1101TinsertionPathogenic
9CHRNECHRNE, 1-BP INS, 1293GinsertionPathogenic
10CHRNECHRNE, 7-BP DEL, 553deletionPathogenic
11CHRNENM_000080.3(CHRNE): c.991C> T (p.Arg331Trp)single nucleotide variantPathogenicrs121909515GRCh37Chr 17, 4802804: 4802804
12CHRNECHRNE, IVS5AS, G-A, -16single nucleotide variantPathogenic
13CHRNB1CHRNB1, 9-BP DEL, NT1276deletionPathogenic
14CHRNB1CHRNB1, EX8DELdeletionPathogenic
15MUSKNM_005592.3(MUSK): c.1031C> G (p.Pro344Arg)single nucleotide variantPathogenicrs387906803GRCh37Chr 9, 113530210: 113530210
16MUSKMUSK, MET605ILEundetermined variantPathogenic
17MUSKNM_005592.3(MUSK): c.2180C> T (p.Ala727Val)single nucleotide variantPathogenicrs397515450GRCh37Chr 9, 113562838: 113562838
18RAPSNNM_005055.4(RAPSN): c.264C> A (p.Asn88Lys)single nucleotide variantPathogenicrs104894299GRCh37Chr 11, 47469631: 47469631
19RAPSNNM_005055.4(RAPSN): c.41T> C (p.Leu14Pro)single nucleotide variantPathogenicrs104894300GRCh37Chr 11, 47470476: 47470476
20RAPSNRAPSN, 5-BP INSinsertionPathogenic
21RAPSNRAPSN, 1-BP INS, 46CinsertionPathogenic
22RAPSNNM_005055.4(RAPSN): c.807C> A (p.Tyr269Ter)single nucleotide variantPathogenicrs104894301GRCh37Chr 11, 47463268: 47463268
23RAPSNNM_005055.4(RAPSN): c.848T> C (p.Leu283Pro)single nucleotide variantPathogenicrs104894293GRCh37Chr 11, 47463227: 47463227
24RAPSNRAPSN, IVS1AS, C-A, -15single nucleotide variantPathogenic
25RAPSNNM_005055.4(RAPSN): c.490C> T (p.Arg164Cys)single nucleotide variantPathogenicrs104894294GRCh37Chr 11, 47469405: 47469405
26RAPSNNM_005055.4(RAPSN): c.133G> A (p.Val45Met)single nucleotide variantPathogenicrs121909254GRCh37Chr 11, 47470384: 47470384
27RAPSNNM_005055.4(RAPSN): c.484G> A (p.Glu162Lys)single nucleotide variantPathogenicrs121909255GRCh37Chr 11, 47469411: 47469411
28MUSKNM_005592.3(MUSK): c.2368G> A (p.Val790Met)single nucleotide variantPathogenicrs199476083GRCh37Chr 9, 113563026: 113563026
29MUSKMUSK, 1-BP INS, 220CinsertionPathogenic

Expression for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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Search GEO for disease gene expression data for Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency.

Pathways for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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Pathways related to Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1CHRNE, MUSK
29.0RAPSN, MUSK
3
Show member pathways
8.6CHRNE, CHRNB1, MUSK

Compounds for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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Sources:
43Novoseek, 49PharmGKB, 12DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1galantamine43 49 1211.4CHRNE, CHRNB1
2potassium43 24 1211.0RAPSN, MUSK
3phosphotyrosine438.9RAPSN, MUSK
4acetylcholine43 49 28 24 1212.7RAPSN, MUSK

GO Terms for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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Cellular components related to Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-gated channel complexGO:00058929.3CHRNE, CHRNB1
2neuromuscular junctionGO:00315948.7RAPSN, MUSK
3integral component of plasma membraneGO:00058878.6CHRNE, CHRNB1, MUSK
4postsynaptic membraneGO:00452118.1RAPSN, CHRNE, CHRNB1, MUSK
5cell junctionGO:00300548.0MUSK, CHRNB1, CHRNE, RAPSN

Biological processes related to Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cation transportGO:00068129.5CHRNE, CHRNB1
2regulation of membrane potentialGO:00423919.3CHRNE, CHRNB1
3synaptic transmissionGO:00072689.3RAPSN, CHRNE
4muscle contractionGO:00069369.1CHRNE, CHRNB1
5positive regulation of neuron apoptotic processGO:00435259.0MUSK, RAPSN
6synaptic transmission, cholinergicGO:00072718.9RAPSN, CHRNE, CHRNB1

Molecular functions related to Myasthenic Syndrome, Congenital, Associated with Acetylcholine Receptor Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine-activated cation-selective channel activityGO:00048899.4CHRNE, CHRNB1
2acetylcholine receptor activityGO:00154649.1CHRNE, CHRNB1

Products for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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Sources for Myasthenic Syndrome, Congenital, Associated with Acetylcholine...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet