MCID: MSC114
MIFTS: 40

Muscular Dystrophy, Limb-Girdle, Type 2e malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type 2e

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 65UMLS, 47Novoseek, 67UniProtKB/Swiss-Prot, 22GeneTests, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 2e:

Name: Muscular Dystrophy, Limb-Girdle, Type 2e 49 11
Lgmd2e 45 47 51 67
Lgmd2s 45 51 67
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 45 51
Muscular Dystrophy, Limb-Girdle, Type 2s 49 45
Beta-Sarcoglycanopathy 51 65
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency 51
Muscular Dystrophy Limb-Girdle with Beta-Sarcoglycan Deficiency 45
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 51
 
Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy 45
Limb-Girdle Muscular Dystrophy, Type 2e 65
Limb-Girdle Muscular Dystrophy Type 2s 45
Limb-Girdle Muscular Dystrophy Type 2e 45
Limb-Girdle Muscular Dystrophy Type 2 22
Limb-Girdle Muscular Dystrophy 2s 67
Limb-Girdle Muscular Dystrophy 2e 67
Lgmd2 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
lgmd2s:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
lgmd2e:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood


External Ids:

Orphanet51 369840, 119
ICD10 via Orphanet28 G71.0
MeSH36 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2e

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UniProtKB/Swiss-Prot:67 Limb-girdle muscular dystrophy 2E: An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate. Limb-girdle muscular dystrophy 2S: A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay.

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2e, also known as lgmd2e, is related to becker muscular dystrophy and muscular dystrophy, and has symptoms including dilated cardiomyopathy, autosomal recessive inheritance and elevated serum creatine phosphokinase. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2e is TRAPPC11 (Trafficking Protein Particle Complex 11), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Striated Muscle Contraction. Related mouse phenotypes are homeostasis/metabolism and muscle.

OMIM:49 LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in... (615356) more...

Description from OMIM:49 604286

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 2e

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Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type Ic Muscular Dystrophy, Limb-Girdle, Type 1h
muscular dystrophy, limb-girdle, type 2e Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 1e
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 2c
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 2d Limb-Girdle Muscular Dystrophy Type 1d
Limb-Girdle Muscular Dystrophies, Autosomal Dominant Limb-Girdle Muscular Dystrophies, Autosomal Recessive
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2e via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1becker muscular dystrophy30.5SGCA, SGCB, TTN
2muscular dystrophy30.0CAPN3, DYSF, FKRP, SGCA, TCAP, TTN
3limb-girdle muscular dystrophy10.9
4beta-sarcoglycanopathy10.6
5isolated hyperckemia10.6
6sarcoglycanopathies10.4
7muscular dystrophy, limb-girdle, type 2a10.1
8calpainopathy10.1
9walker-warburg syndrome10.1
10peeling skin syndrome 210.1CAPN3, SGCB
11isolated pierre robin sequence10.0CAPN3, FKRP
12septate vagina10.0TCAP, TTN
13muscular dystrophy, limb-girdle, type ic9.9DYSF, FKRP
14muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus9.9FKRP, SGCA
15sarcoidosis, susceptibility 29.8DYSF, SGCA, SGCB
16muscular dystrophy, congenital9.8CAPN3, FKRP, SGCA
17miyoshi muscular dystrophy 19.8CAPN3, DYSF
18dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease9.8CAPN3, DYSF
19rippling muscle disease9.8DYSF, TTN
20immunodeficiency 34, mycobacteriosis, x-linked9.8DYSF, FKRP, SGCA
21drug-induced hepatitis9.7FKRP, SGCA, TCAP, TTN
22acute pericementitis9.7CAPN3, DYSF, TTN
23myotonic disease9.6CAPN3, DYSF, TTN
24cardiomyopathy with or without skeletal myopathy9.6FKRP, SGCA, TCAP, TTN
25myopathy of extraocular muscle9.3CAPN3, DYSF, FKRP, TCAP, TTN
26muscular dystrophy, limb-girdle, type 2h9.2CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
27cardiomyopathy, hypertrophic, 259.2CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
28muscular dystrophy, limb-girdle, type 1a9.2CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
29glycogen storage disease 0, muscle9.2CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
30lmna-related muscle diseases9.1CAPN3, DYSF, FKRP, SGCA, TCAP, TTN
31cornelia de lange syndrome9.1CAPN3, DYSF, SGCA, SGCB, TCAP, TRIM32
32muscular dystrophy, limb-girdle, type 2b8.9CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP
33muscular dystrophy, limb-girdle, type 2f8.9CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP
34cartilage disease8.9CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP
35myeloid leukemia8.8CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP
36muscular dystrophy, limb-girdle, type 2e8.7CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 2e:



Diseases related to muscular dystrophy, limb-girdle, type 2e

Symptoms for Muscular Dystrophy, Limb-Girdle, Type 2e

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Symptoms by clinical synopsis from OMIM:

604286

Clinical features from OMIM:

604286,615356

HPO human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2e:

(show all 30)
id Description Frequency HPO Source Accession
1 dilated cardiomyopathy rare (5%) HP:0001644
2 autosomal recessive inheritance HP:0000007
3 elevated serum creatine phosphokinase HP:0003236
4 limb-girdle muscle weakness HP:0003325
5 muscular dystrophy HP:0003560
6 juvenile onset HP:0003621
7 scapular winging HP:0003691
8 calf muscle pseudohypertrophy HP:0003707
9 shoulder girdle muscle atrophy HP:0003724
10 proximal amyotrophy HP:0007126
11 pelvic girdle muscle atrophy HP:0008988
12 microcephaly HP:0000252
13 strabismus HP:0000486
14 cataract HP:0000518
15 myopia HP:0000545
16 ataxia HP:0001251
17 muscular hypotonia HP:0001252
18 global developmental delay HP:0001263
19 dystonia HP:0001332
20 tremor HP:0001337
21 hip dysplasia HP:0001385
22 chorea HP:0002072
23 athetosis HP:0002305
24 scoliosis HP:0002650
25 myalgia HP:0003326
26 muscle cramps HP:0003394
27 proximal muscle weakness HP:0003701
28 phenotypic variability HP:0003812
29 short stature HP:0004322
30 limb-girdle muscular dystrophy HP:0006785

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type 2e

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 2e

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2e

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Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 2e:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2s22 TRAPPC11

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2e

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Animal Models for Muscular Dystrophy, Limb-Girdle, Type 2e or affiliated genes

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MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2e:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.7CAPN3, DYSF, FKRP, SGCA, TCAP, TRIM32
2MP:00053696.3CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP

Publications for Muscular Dystrophy, Limb-Girdle, Type 2e

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Variations for Muscular Dystrophy, Limb-Girdle, Type 2e

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2e:

67
id Symbol AA change Variation ID SNP ID
1SGCBp.Arg91LeuVAR_010391
2SGCBp.Arg91ProVAR_010392rs28936384
3SGCBp.Met100LysVAR_010393rs28936386
4SGCBp.Leu108ArgVAR_010394
5SGCBp.Thr151ArgVAR_010395rs28936383
6SGCBp.Arg91CysVAR_010422
7SGCBp.Ile119PheVAR_010424
8SGCBp.Gly167SerVAR_010426
9TRAPPC11p.Gly980ArgVAR_070158

Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2e:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1SGCBNM_000232.4(SGCB): c.32dupA (p.Gln12Alafs)duplicationPathogenicrs796065319GRCh37Chr 4, 52904394: 52904394
2SGCBNM_000232.4(SGCB): c.341C> T (p.Ser114Phe)single nucleotide variantPathogenicrs150518260GRCh37Chr 4, 52895932: 52895932
3TRAPPC11NM_021942.5(TRAPPC11): c.2938G> A (p.Gly980Arg)single nucleotide variantPathogenicrs397509417GRCh37Chr 4, 184622936: 184622936
4TRAPPC11NM_021942.5(TRAPPC11): c.1287+5G> Asingle nucleotide variantPathogenicrs397509418GRCh37Chr 4, 184605212: 184605212
5SGCBNM_000232.4(SGCB): c.452C> G (p.Thr151Arg)single nucleotide variantPathogenicrs28936383GRCh37Chr 4, 52895065: 52895065
6SGCBNM_000232.4(SGCB): c.552T> G (p.Tyr184Ter)single nucleotide variantPathogenicrs104893868GRCh37Chr 4, 52894965: 52894965
7SGCBSGCB, 8-BP DUP, NT383duplicationPathogenic
8SGCBSGCB, 2-BP DEL, NT465deletionPathogenic
9SGCBNM_000232.4(SGCB): c.272G> C (p.Arg91Pro)single nucleotide variantPathogenicrs104893869GRCh37Chr 4, 52896001: 52896001
10SGCBNM_000232.4(SGCB): c.323T> G (p.Leu108Arg)single nucleotide variantPathogenicrs104893870GRCh37Chr 4, 52895950: 52895950
11SGCBNM_000232.4(SGCB): c.299T> A (p.Met100Lys)single nucleotide variantPathogenicrs104893871GRCh37Chr 4, 52895974: 52895974
12SGCBNM_000232.4(SGCB): c.272G> T (p.Arg91Leu)single nucleotide variantPathogenicrs104893869GRCh37Chr 4, 52896001: 52896001
13SGCBSGCB, 4-BP DEL, 243+3GAGTdeletionPathogenic
14SGCBNM_000232.4(SGCB): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs398123262GRCh37Chr 4, 52904425: 52904425

Expression for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2e

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Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2e.

Pathways for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2e

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Pathways related to Muscular Dystrophy, Limb-Girdle, Type 2e according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2SGCA, SGCB, TTN
2
Show member pathways
8.7DYSF, TCAP, TTN

GO Terms for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2e

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Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 2e according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dystroglycan complexGO:001601110.2SGCA, SGCB
2sarcoglycan complexGO:001601210.2SGCA, SGCB
3I bandGO:00316749.5TCAP, TTN
4T-tubuleGO:00303159.3CAPN3, DYSF
5dystrophin-associated glycoprotein complexGO:00160109.1FKRP, SGCA, SGCB
6Z discGO:00300188.6CAPN3, TCAP, TTN
7sarcolemmaGO:00423838.4DYSF, FKRP, SGCA, SGCB

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 2e according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle hypertrophyGO:00033009.9TCAP, TTN
2skeletal muscle thin filament assemblyGO:00302409.9TCAP, TTN
3skeletal muscle myosin thick filament assemblyGO:00302419.9TCAP, TTN
4detection of muscle stretchGO:00359959.9TCAP, TTN
5cardiac muscle fiber developmentGO:00487399.9TCAP, TTN
6sarcomerogenesisGO:00487699.9TCAP, TTN
7cardiac myofibril assemblyGO:00550039.9TCAP, TTN
8cardiac muscle tissue morphogenesisGO:00550089.8TCAP, TTN
9positive regulation of proteolysisGO:00458629.7CAPN3, TRIM32
10adult heart developmentGO:00075129.7TCAP, TTN
11response to calcium ionGO:00515929.6CAPN3, TTN
12cardiac muscle contractionGO:00600489.5TCAP, TTN
13regulation of catalytic activityGO:00507909.3CAPN3, TTN
14muscle filament slidingGO:00300499.2TCAP, TTN
15sarcomere organizationGO:00452149.1CAPN3, TCAP, TTN
16muscle organ developmentGO:00075179.0CAPN3, SGCA, SGCB

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Type 2e according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:00314329.8CAPN3, TCAP
2protein self-associationGO:00436219.8TRIM32, TTN
3structural constituent of muscleGO:00083078.9CAPN3, TCAP, TTN
4calcium ion bindingGO:00055097.8CAPN3, DYSF, SGCA, TTN

Sources for Muscular Dystrophy, Limb-Girdle, Type 2e

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet