MCID: MYS017
MIFTS: 39

Myasthenia, Limb-Girdle, Familial malady

Genetic diseases, Neuronal diseases, Eye diseases, Rare diseases categories
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Summaries for Myasthenia, Limb-Girdle, Familial

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MalaCards based summary: Myasthenia, Limb-Girdle, Familial, also known as congenital myasthenic syndromes, postsynaptic, is related to fetal akinesia deformation sequence and nicotine dependence, and has symptoms including An important gene associated with Myasthenia, Limb-Girdle, Familial is DOK7 (docking protein 7), and among its related pathways are Activation of Nicotinic Acetylcholine Receptors and Transmission across Chemical Synapses. The compounds alpha-bungarotoxin and succinylcholine have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are respiratory system and growth/size/body.

Descriptions from OMIM:46 254300, 601462, 608930, 608931, 614198 615120 more

Aliases & Classifications for Myasthenia, Limb-Girdle, Familial

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Myasthenia, Limb-Girdle, Familial, Aliases & Descriptions:

Name: Myasthenia, Limb-Girdle, Familial 46
Congenital Myasthenic Syndromes, Postsynaptic 62
 
Postsynaptic Congenital Myasthenic Syndromes 48


Classifications:

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


External Ids:

ICD10 via Orphanet26 G70.2

Related Diseases for Myasthenia, Limb-Girdle, Familial

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Graphical network of diseases related to Myasthenia, Limb-Girdle, Familial:



Diseases related to myasthenia, limb-girdle, familial

Symptoms for Myasthenia, Limb-Girdle, Familial

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Symptoms by clinical synopsis from OMIM:

254300

Clinical features from OMIM:

254300,601462,608930,608931,614198,615120

HPO human phenotypes related to Myasthenia, Limb-Girdle, Familial:

(show all 17)
id Description Frequency HPO Source Accession
1 ophthalmoparesis rare (5%) HP:0000597
2 decreased fetal movement rare (5%) HP:0001558
3 autosomal recessive inheritance HP:0000007
4 ptosis HP:0000508
5 bulbar palsy HP:0001283
6 waddling gait HP:0002515
7 abnormality of the immune system HP:0002715
8 respiratory insufficiency due to muscle weakness HP:0002747
9 easy fatigability HP:0003388
10 gowers sign HP:0003391
11 muscle cramps HP:0003394
12 fatigable weakness HP:0003473
13 juvenile onset HP:0003621
14 distal amyotrophy HP:0003693
15 proximal amyotrophy HP:0007126
16 mildly elevated creatine phosphokinase HP:0008180
17 facial palsy HP:0010628

Drugs & Therapeutics for Myasthenia, Limb-Girdle, Familial

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Drug clinical trials:

Search ClinicalTrials for Myasthenia, Limb-Girdle, Familial

Search NIH Clinical Center for Myasthenia, Limb-Girdle, Familial

Genetic Tests for Myasthenia, Limb-Girdle, Familial

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Anatomical Context for Myasthenia, Limb-Girdle, Familial

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MalaCards organs/tissues related to Myasthenia, Limb-Girdle, Familial:

32
Eye

Animal Models for Myasthenia, Limb-Girdle, Familial or affiliated genes

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MGI Mouse Phenotypes related to Myasthenia, Limb-Girdle, Familial:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.0LRP4, MUSK, CHRNE, DOK7, RAPSN, AGRN
2MP:00053787.7SCN4A, MUSK, CHRNE, AGRN, LRP4
3MP:00053697.6CHRNE, MUSK, SCN4A, AGRN, RAPSN
4MP:00036317.1LRP4, AGRN, RAPSN, DOK7, CHRNA1, CHRNE
5MP:00053866.9LRP4, SCN4A, MUSK, CHRNE, CHRNA1, DOK7
6MP:00107686.7AGRN, LRP4, SCN4A, MUSK, CHRNE, CHRNA1

Publications for Myasthenia, Limb-Girdle, Familial

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Variations for Myasthenia, Limb-Girdle, Familial

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UniProtKB/Swiss-Prot genetic disease variations for Myasthenia, Limb-Girdle, Familial:

64 (show all 19)
id Symbol AA change Variation ID SNP ID
1DOK7p.Gly180AlaVAR_027544
2DOK7p.Arg158GlnVAR_031246rs6811423
3DOK7p.Glu3LysVAR_068750
4DOK7p.Pro31ThrVAR_068751
5DOK7p.Ala33ValVAR_068752
6DOK7p.Thr77MetVAR_068754
7DOK7p.Gly109CysVAR_068756
8DOK7p.Val116MetVAR_068757
9DOK7p.His132GlnVAR_068758
10DOK7p.Val139LeuVAR_068759
11DOK7p.Pro146LeuVAR_068760
12DOK7p.Leu157ArgVAR_068761
13DOK7p.Gly161ArgVAR_068762
14DOK7p.Gly166ArgVAR_068763
15DOK7p.Gly171AspVAR_068764
16DOK7p.Gly171ArgVAR_068765
17DOK7p.Gly172ArgVAR_068766
18DOK7p.Gly180ValVAR_068767
19DOK7p.Pro469HisVAR_068773rs147185207

Clinvar genetic disease variations for Myasthenia, Limb-Girdle, Familial:

6
id Gene Name Type Significance SNP ID Assembly Location
1DOK7DOK7, 4-BP DUP, 1124TGCCduplicationPathogenic
2DOK7DOK7, 1-BP INS, 1263CinsertionPathogenic
3DOK7DOK7, 4-BP DEL, 548TCCTdeletionPathogenic
4DOK7DOK7, 4-BP DUP, 1339CTGGduplicationPathogenic
5DOK7DOK7, 1-BP INS, 1143CinsertionPathogenic
6DOK7NM_173660.4(DOK7): c.539G> C (p.Gly180Ala)single nucleotide variantPathogenicrs118203994GRCh37Chr 4, 3487272: 3487272
7DOK7NM_173660.4(DOK7): c.601C> T (p.Arg201Ter)single nucleotide variantPathogenicrs118203995GRCh37Chr 4, 3487334: 3487334
8DOK7DOK7, IVS2, G-T, -1single nucleotide variantPathogenic
9DOK7DOK7, IVS3DS, G-T, +1single nucleotide variantPathogenic
10DOK7DOK7, 1-BP INS, 1378CinsertionPathogenic

Expression for genes affiliated with Myasthenia, Limb-Girdle, Familial

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Expression patterns in normal tissues for genes affiliated with Myasthenia, Limb-Girdle, Familial

Search GEO for disease gene expression data for Myasthenia, Limb-Girdle, Familial.

Pathways for genes affiliated with Myasthenia, Limb-Girdle, Familial

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Pathways related to Myasthenia, Limb-Girdle, Familial according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2CHRNE, CHRNA1, CHRND
2
Show member pathways
9.2CHRND, CHRNA1, CHRNE
3
Show member pathways
9.0MUSK, LRP4, AGRN
49.0MUSK, LRP4, AGRN
58.8AGRN, RAPSN, CHRNA1, MUSK
68.7CHRNA1, CHRNE, CHRNB1, CHRND
7
Show member pathways
8.7CHRNB1, CHRNE, CHRND, CHRNA1
8
Show member pathways
8.6CHRNE, CHRND, CHRNA1, MUSK
9
Show member pathways
8.1CHRND, CHRNB1, CHRNE, CHRNA1, MUSK

Compounds for genes affiliated with Myasthenia, Limb-Girdle, Familial

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Compounds related to Myasthenia, Limb-Girdle, Familial according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1alpha-bungarotoxin44 28 6111.8CHRNA1, AGRN
2succinylcholine44 50 28 1112.2SCN4A, CHRNA1
3nicotine44 28 50 1112.0AGRN, MUSK, CHRNA1
4sodium44 2410.0SCN4A, RAPSN, AGRN
5galantamine44 50 1110.9CHRNB1, CHRNE, CHRNA1, CHRND
6acetylcholine44 50 28 24 1112.5MUSK, CHRNA1, CHRND, RAPSN, AGRN
7potassium44 24 1110.4SCN4A, MUSK, RAPSN

GO Terms for genes affiliated with Myasthenia, Limb-Girdle, Familial

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Cellular components related to Myasthenia, Limb-Girdle, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surfaceGO:0099869.2AGRN, CHRNA1, LRP4
2acetylcholine-gated channel complexGO:0058928.6CHRND, CHRNA1, CHRNE, CHRNB1
3neuromuscular junctionGO:0315948.3CHRNA1, DOK7, LRP4, RAPSN, MUSK
4integral component of plasma membraneGO:0058877.8SCN4A, MUSK, CHRNB1, CHRNE
5postsynaptic membraneGO:0452117.7RAPSN, CHRNA1, CHRNE, CHRNB1, CHRND, MUSK
6cell junctionGO:0300547.2CHRNA1, CHRNE, MUSK, CHRND, DOK7, RAPSN

Biological processes related to Myasthenia, Limb-Girdle, Familial according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1receptor clusteringGO:04311310.0DOK7, AGRN
2skeletal muscle tissue growthGO:0486309.9CHRND, CHRNA1
3musculoskeletal movementGO:0508819.9CHRND, CHRNA1
4neuromuscular processGO:0509059.7CHRND, CHRNA1
5neuromuscular synaptic transmissionGO:0072749.6CHRNA1, CHRNB1
6skeletal muscle acetylcholine-gated channel clusteringGO:0713409.6MUSK, LRP4
7synapse organizationGO:0508089.5AGRN, LRP4
8positive regulation of neuron apoptotic processGO:0435259.4RAPSN, MUSK, AGRN
9synaptic transmission, cholinergicGO:0072719.4RAPSN, CHRNB1, CHRNE
10neuromuscular junction developmentGO:0075289.1MUSK, CHRNA1, DOK7, AGRN
11synaptic transmissionGO:0072689.0RAPSN, CHRND, CHRNA1, CHRNE
12cation transportGO:0068129.0CHRNB1, CHRNE, CHRNA1, CHRND
13extracellular matrix organizationGO:0301989.0LRP4, MUSK, AGRN
14regulation of membrane potentialGO:0423919.0CHRNE, CHRNA1, CHRND, CHRNB1
15transportGO:0068108.9CHRND, CHRNE, CHRNA1
16muscle contractionGO:0069368.6SCN4A, CHRNB1, CHRNE, CHRND
17signal transductionGO:0071658.6CHRND, CHRNB1, CHRNE, AGRN, CHRNA1

Molecular functions related to Myasthenia, Limb-Girdle, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylcholine receptor activityGO:0154649.1CHRNB1, CHRNA1, CHRNE
2acetylcholine bindingGO:0421668.9CHRNA1, CHRND, CHRNB1
3acetylcholine-activated cation-selective channel activityGO:0048898.6CHRND, CHRNA1, CHRNE, CHRNB1

Products for genes affiliated with Myasthenia, Limb-Girdle, Familial

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Sources for Myasthenia, Limb-Girdle, Familial

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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