MCID: MYS020
MIFTS: 26

Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency malady

Genetic diseases (common) category
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Summaries for Myasthenic Syndrome, Congenital, Associated with Facial...

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MalaCards based summary: Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency is related to fetal akinesia deformation sequence and myasthenia gravis. An important gene associated with Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency is RAPSN (receptor-associated protein of the synapse), and among its related pathways are Agrin Interactions at Neuromuscular Junction and Activation of Nicotinic Acetylcholine Receptors. The compounds potassium and phosphotyrosine have been mentioned in the context of this disorder. Related mouse phenotypes are mortality/aging and respiratory system.

Description from OMIM:46 608931

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

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

Name: Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency 46


Classifications:

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


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

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Diseases related to Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1fetal akinesia deformation sequence10.2RAPSN
2myasthenia gravis10.1RAPSN, MUSK
3slow-channel congenital myasthenic syndrome9.8CHRNE, CHRNB1
4congenital myasthenic syndrome associated with acetylcholine receptor deficiency9.8RAPSN, CHRNE, MUSK
5congenital myasthenic syndrome9.8MUSK, CHRNE, RAPSN
6myopathy9.6RAPSN, CHRNE, CHRNB1
7neuropathy9.5CHRNB1, CHRNE, RAPSN

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



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

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

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Clinical features from OMIM:

608931

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

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Drug clinical trials:

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

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

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

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

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.4RAPSN, CHRNG, CHRNE, MUSK
2MP:00053888.3MUSK, CHRNE, CHRNG, RAPSN
3MP:00053698.1MUSK, CHRNE, CHRNG, RAPSN
4MP:00036317.5RAPSN, CHRNG, CHRNE, CHRNB1, MUSK

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

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

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

64 (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 Facial Dysmorphism and Acetylcholine Receptor Deficiency:

6 (show all 29)
id Gene Name 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 Facial...

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Expression patterns in normal tissues for genes affiliated with Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency

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

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

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Pathways related to Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5RAPSN, MUSK
2
Show member pathways
9.3CHRNG, CHRNE
3
Show member pathways
9.3CHRNG, CHRNE
4
Show member pathways
8.8MUSK, CHRNE, CHRNG
58.5CHRNG, CHRNE, CHRNB1
6
Show member pathways
8.5CHRNG, CHRNE, CHRNB1
7
Show member pathways
8.0MUSK, CHRNB1, CHRNE, CHRNG

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

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 28IUPHAR
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Compounds related to Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1potassium44 24 1111.5RAPSN, MUSK
2phosphotyrosine449.4RAPSN, MUSK
3acetylcholine44 50 28 24 1113.2RAPSN, MUSK
4galantamine44 50 1110.5CHRNG, CHRNE, CHRNB1

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

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Cellular components related to Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junctionGO:0315949.5RAPSN, MUSK
2acetylcholine-gated channel complexGO:0058928.4CHRNG, CHRNE, CHRNB1
3integral component of plasma membraneGO:0058877.7MUSK, CHRNB1, CHRNE, CHRNG
4postsynaptic membraneGO:0452117.6RAPSN, CHRNG, CHRNE, CHRNB1, MUSK
5cell junctionGO:0300547.5MUSK, CHRNB1, CHRNE, CHRNG, RAPSN

Biological processes related to Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of neuron apoptotic processGO:0435259.4MUSK, RAPSN
2transportGO:0068109.3CHRNG, CHRNE
3cation transportGO:0068129.1CHRNB1, CHRNE
4synaptic transmissionGO:0072688.9RAPSN, CHRNG, CHRNE
5synaptic transmission, cholinergicGO:0072718.8RAPSN, CHRNE, CHRNB1
6regulation of membrane potentialGO:0423918.7CHRNB1, CHRNE, CHRNG
7muscle contractionGO:0069368.6CHRNG, CHRNE, CHRNB1
8signal transductionGO:0071658.2CHRNG, CHRNE, CHRNB1

Molecular functions related to Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism and Acetylcholine Receptor Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1channel activityGO:0152679.1CHRNG, CHRNB1
2acetylcholine receptor activityGO:0154648.4CHRNG, CHRNE, CHRNB1
3acetylcholine-activated cation-selective channel activityGO:0048898.2CHRNG, CHRNE, CHRNB1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet