MCID: MYS017
MIFTS: 25

Myasthenia, Limb-Girdle, Familial malady

Genetic diseases (common) category

Summaries for Myasthenia, Limb-Girdle, Familial

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MalaCards based summary: Myasthenia, Limb-Girdle, Familial, also known as congenital myasthenic syndrome ib, is related to congenital myasthenic syndrome, and has symptoms including ophthalmoparesis, decreased fetal movement and autosomal recessive inheritance. An important gene associated with Myasthenia, Limb-Girdle, Familial is DOK7 (docking protein 7). Related mouse phenotypes are behavior/neurological and respiratory system.

Description from OMIM:45 254300

Aliases & Classifications for Myasthenia, Limb-Girdle, Familial

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

Name: Myasthenia, Limb-Girdle, Familial 45 10
Congenital Myasthenic Syndrome Ib 60
 
Familial Limb-Girdle Myasthenia 22


Classifications:

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


External Ids:

OMIM45 254300

Related Diseases for Myasthenia, Limb-Girdle, Familial

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Diseases related to Myasthenia, Limb-Girdle, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital myasthenic syndrome30.8AGRN

Symptoms for Myasthenia, Limb-Girdle, Familial

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Symptoms by clinical synopsis from OMIM:

254300

Clinical features from OMIM:

254300

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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Genetic tests related to Myasthenia, Limb-Girdle, Familial:

id Genetic test Affiliating Genes
1 Myasthenia, Limb-Girdle, Familial22
2 Myasthenia, Familial Limb-Girdle22

Anatomical Context for Myasthenia, Limb-Girdle, Familial

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

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1AGRN, DOK7
2MP:00053888.8AGRN, DOK7

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:

62 (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 Variation 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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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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Compounds for genes affiliated with Myasthenia, Limb-Girdle, Familial

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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell junctionGO:00300549.1AGRN, DOK7

Biological processes related to Myasthenia, Limb-Girdle, Familial according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular junction developmentGO:00075289.1AGRN, DOK7
2receptor clusteringGO:00431138.8AGRN, DOK7

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

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  • Antibodies
  • Proteins
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Myasthenia, Limb-Girdle, Familial

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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