MCID: ATS359
MIFTS: 37

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Categories: Rare diseases, Muscle diseases, Genetic diseases, Neuronal diseases, Metabolic diseases

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

MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e:

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 12 15
Beta-Sarcoglycanopathy 12 53 29 6 73
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 12 15
Muscular Dystrophy, Limb-Girdle, Type 2s 12 73
Autosomal Recessive Muscular Dystrophy Due to Torsin-1a-Interacting Protein 1 Deficiency 12
Muscular Dystrophy with Progressive Weakness, Distal Contractures and Rigid Spine 12
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency 12
Autosomal Recessive Muscular Dystrophy Due to Lap1b Deficiency 12
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 40
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y 12
Muscular Dystrophy, Limb-Girdle, Type 2e 12
Muscular Dystrophy, Limb-Girdle, Type 2y 12
Limb-Girdle Muscular Dystrophy, Type 2e 73
Lgmd2e 12
Lgmd2s 12
Lgmd2y 12

Classifications:



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ICD10 33 G71.0

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e, also known as beta-sarcoglycanopathy, is related to muscular dystrophy, limb-girdle, type 2a and autosomal recessive limb-girdle muscular dystrophy type 2h, and has symptoms including ataxia, athetosis and muscle cramp. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e is SGCB (Sarcoglycan Beta), and among its related pathways/superpathways are Allograft rejection and Dilated cardiomyopathy (DCM). Affiliated tissues include skeletal muscle, and related phenotype is muscle.

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2a 31.6 CAPN3 SGCB TRAPPC11
2 autosomal recessive limb-girdle muscular dystrophy type 2h 10.1 CAPN3 SGCG
3 autosomal dominant limb-girdle muscular dystrophy type 1g 10.0 HNRNPDL TRAPPC11
4 muscular dystrophy-dystroglycanopathy , type c, 9 10.0 HNRNPDL TRAPPC11
5 muscular dystrophy, limb-girdle, type 2w 10.0 HNRNPDL TRAPPC11
6 muscular dystrophy-dystroglycanopathy , type c, 4 9.9 HNRNPDL TRAPPC11
7 muscular dystrophy, limb-girdle, type 2q 9.9 HNRNPDL TRAPPC11
8 muscular dystrophy, limb-girdle, type 2b 9.9 CAPN3 SGCB
9 autosomal recessive limb-girdle muscular dystrophy type 2b 9.9 CAPN3 SGCG
10 muscular dystrophy, limb-girdle, type 2r 9.9 HNRNPDL TRAPPC11
11 muscular dystrophy-dystroglycanopathy , type c, 14 9.9 HNRNPDL TRAPPC11
12 muscular dystrophy-dystroglycanopathy , type c, 7 9.9 HNRNPDL TRAPPC11
13 muscular dystrophy, limb-girdle, type 1f 9.8 HNRNPDL TRAPPC11
14 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 HNRNPDL TRAPPC11
15 muscular dystrophy-dystroglycanopathy , type c, 1 9.8 HNRNPDL TRAPPC11
16 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 HNRNPDL TRAPPC11
17 muscular dystrophy, limb-girdle, type 1e 9.7 HNRNPDL TRAPPC11
18 muscular dystrophy, limb-girdle, type 2c 9.2 CAPN3 SGCD SGCG
19 autosomal recessive limb-girdle muscular dystrophy 9.2 CAPN3 SGCD SGCG
20 muscle tissue disease 9.2 CAPN3 SGCD SGCG
21 myopathy 8.9 CAPN3 SGCB SGCG
22 autosomal recessive limb-girdle muscular dystrophy type 2f 8.8 CAPN3 SGCB SGCD SGCG
23 muscular dystrophy, limb-girdle, type 2d 8.8 CAPN3 SGCB SGCD SGCG
24 muscular dystrophy, limb-girdle, type 2f 8.7 CAPN3 SGCB SGCD SGCG
25 dilated cardiomyopathy 8.7 SGCB SGCD SGCG
26 limb-girdle muscular dystrophy 7.4 CAPN3 HNRNPDL SGCB SGCD SGCG TRAPPC11
27 muscular dystrophy 7.4 CAPN3 HNRNPDL SGCB SGCD SGCG TRAPPC11

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



Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

UMLS symptoms related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e:


ataxia, athetosis, muscle cramp, tremor, myalgia, waddling gait

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 SGCD SGCG CAPN3 SGCB

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

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

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

# Genetic test Affiliating Genes
1 Beta-Sarcoglycanopathy 29

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

MalaCards organs/tissues related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e:

41
Skeletal Muscle

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e:

# Title Authors Year
1
Morphological and functional analyses of skeletal muscles from an immunodeficient animal model of limb-girdle muscular dystrophy type 2E. ( 29476695 )
2018
2
Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene. ( 28883879 )
2017
3
A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping. ( 27276190 )
2016
4
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. ( 25862795 )
2015
5
Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort. ( 20071171 )
2010
6
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. ( 16088906 )
2005
7
Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. ( 10678176 )
2000
8
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). ( 8968749 )
1996

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

ClinVar genetic disease variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e:

6
(show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGCB NM_000232.4(SGCB): c.341C> T (p.Ser114Phe) single nucleotide variant Pathogenic/Likely pathogenic rs150518260 GRCh37 Chromosome 4, 52895932: 52895932
2 SGCB NM_000232.4(SGCB): c.341C> T (p.Ser114Phe) single nucleotide variant Pathogenic/Likely pathogenic rs150518260 GRCh38 Chromosome 4, 52029766: 52029766
3 SGCB NM_000232.4(SGCB): c.943G> A (p.Gly315Arg) single nucleotide variant Uncertain significance rs150395645 GRCh37 Chromosome 4, 52890137: 52890137
4 SGCB NM_000232.4(SGCB): c.943G> A (p.Gly315Arg) single nucleotide variant Uncertain significance rs150395645 GRCh38 Chromosome 4, 52023971: 52023971
5 SGCB NM_000232.4(SGCB): c.31C> G (p.Gln11Glu) single nucleotide variant Uncertain significance rs752492870 GRCh37 Chromosome 4, 52904395: 52904395
6 SGCB NM_000232.4(SGCB): c.31C> G (p.Gln11Glu) single nucleotide variant Uncertain significance rs752492870 GRCh38 Chromosome 4, 52038229: 52038229
7 SGCB NM_000232.4(SGCB): c.799C> T (p.Arg267Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200761715 GRCh37 Chromosome 4, 52890281: 52890281
8 SGCB NM_000232.4(SGCB): c.799C> T (p.Arg267Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200761715 GRCh38 Chromosome 4, 52024115: 52024115
9 SGCB NM_000232.4(SGCB): c.392G> A (p.Arg131Gln) single nucleotide variant Uncertain significance rs201439705 GRCh37 Chromosome 4, 52895881: 52895881
10 SGCB NM_000232.4(SGCB): c.392G> A (p.Arg131Gln) single nucleotide variant Uncertain significance rs201439705 GRCh38 Chromosome 4, 52029715: 52029715
11 SGCB NM_000232.4(SGCB): c.*3258G> C single nucleotide variant Uncertain significance rs182133472 GRCh38 Chromosome 4, 52020699: 52020699
12 SGCB NM_000232.4(SGCB): c.*3258G> C single nucleotide variant Uncertain significance rs182133472 GRCh37 Chromosome 4, 52886865: 52886865
13 SGCB NM_000232.4(SGCB): c.*3216A> G single nucleotide variant Uncertain significance rs774980532 GRCh38 Chromosome 4, 52020741: 52020741
14 SGCB NM_000232.4(SGCB): c.*3216A> G single nucleotide variant Uncertain significance rs774980532 GRCh37 Chromosome 4, 52886907: 52886907
15 SGCB NM_000232.4(SGCB): c.*2811G> A single nucleotide variant Uncertain significance rs561817001 GRCh38 Chromosome 4, 52021146: 52021146
16 SGCB NM_000232.4(SGCB): c.*2811G> A single nucleotide variant Uncertain significance rs561817001 GRCh37 Chromosome 4, 52887312: 52887312
17 SGCB NM_000232.4(SGCB): c.*2580C> T single nucleotide variant Uncertain significance rs886059427 GRCh37 Chromosome 4, 52887543: 52887543
18 SGCB NM_000232.4(SGCB): c.*2580C> T single nucleotide variant Uncertain significance rs886059427 GRCh38 Chromosome 4, 52021377: 52021377
19 SGCB NM_000232.4(SGCB): c.*1963_*1966delTTTA deletion Likely benign rs147275302 GRCh37 Chromosome 4, 52888157: 52888160
20 SGCB NM_000232.4(SGCB): c.*1963_*1966delTTTA deletion Likely benign rs147275302 GRCh38 Chromosome 4, 52021991: 52021994
21 SGCB NM_000232.4(SGCB): c.*1648dupA duplication Uncertain significance rs886059430 GRCh37 Chromosome 4, 52888475: 52888475
22 SGCB NM_000232.4(SGCB): c.*1648dupA duplication Uncertain significance rs886059430 GRCh38 Chromosome 4, 52022309: 52022309
23 SGCB NM_000232.4(SGCB): c.*1624C> T single nucleotide variant Benign rs225163 GRCh37 Chromosome 4, 52888499: 52888499
24 SGCB NM_000232.4(SGCB): c.*1624C> T single nucleotide variant Benign rs225163 GRCh38 Chromosome 4, 52022333: 52022333
25 SGCB NM_000232.4(SGCB): c.*1135C> G single nucleotide variant Uncertain significance rs886059431 GRCh37 Chromosome 4, 52888988: 52888988
26 SGCB NM_000232.4(SGCB): c.*1135C> G single nucleotide variant Uncertain significance rs886059431 GRCh38 Chromosome 4, 52022822: 52022822
27 SGCB NM_000232.4(SGCB): c.*1113G> A single nucleotide variant Uncertain significance rs76630071 GRCh37 Chromosome 4, 52889010: 52889010
28 SGCB NM_000232.4(SGCB): c.*1113G> A single nucleotide variant Uncertain significance rs76630071 GRCh38 Chromosome 4, 52022844: 52022844
29 SGCB NM_000232.4(SGCB): c.*1105A> G single nucleotide variant Uncertain significance rs77404139 GRCh37 Chromosome 4, 52889018: 52889018
30 SGCB NM_000232.4(SGCB): c.*1105A> G single nucleotide variant Uncertain significance rs77404139 GRCh38 Chromosome 4, 52022852: 52022852
31 SGCB NM_000232.4(SGCB): c.*507A> G single nucleotide variant Uncertain significance rs886059436 GRCh38 Chromosome 4, 52023450: 52023450
32 SGCB NM_000232.4(SGCB): c.*507A> G single nucleotide variant Uncertain significance rs886059436 GRCh37 Chromosome 4, 52889616: 52889616
33 SGCB NM_000232.4(SGCB): c.-18G> A single nucleotide variant Uncertain significance rs368914658 GRCh38 Chromosome 4, 52038277: 52038277
34 SGCB NM_000232.4(SGCB): c.-18G> A single nucleotide variant Uncertain significance rs368914658 GRCh37 Chromosome 4, 52904443: 52904443
35 SGCB NM_000232.4(SGCB): c.*2956_*2960delATAAA deletion Uncertain significance rs886059425 GRCh38 Chromosome 4, 52020997: 52021001
36 SGCB NM_000232.4(SGCB): c.*2956_*2960delATAAA deletion Uncertain significance rs886059425 GRCh37 Chromosome 4, 52887163: 52887167
37 SGCB NM_000232.4(SGCB): c.*2351C> T single nucleotide variant Uncertain significance rs886059428 GRCh37 Chromosome 4, 52887772: 52887772
38 SGCB NM_000232.4(SGCB): c.*2351C> T single nucleotide variant Uncertain significance rs886059428 GRCh38 Chromosome 4, 52021606: 52021606
39 SGCB NM_000232.4(SGCB): c.*2286T> A single nucleotide variant Uncertain significance rs116538326 GRCh37 Chromosome 4, 52887837: 52887837
40 SGCB NM_000232.4(SGCB): c.*2286T> A single nucleotide variant Uncertain significance rs116538326 GRCh38 Chromosome 4, 52021671: 52021671
41 SGCB NM_000232.4(SGCB): c.*1566T> C single nucleotide variant Benign rs13989 GRCh37 Chromosome 4, 52888557: 52888557
42 SGCB NM_000232.4(SGCB): c.*1566T> C single nucleotide variant Benign rs13989 GRCh38 Chromosome 4, 52022391: 52022391
43 SGCB NM_000232.4(SGCB): c.*1118G> T single nucleotide variant Uncertain significance rs886059433 GRCh37 Chromosome 4, 52889005: 52889005
44 SGCB NM_000232.4(SGCB): c.*1118G> T single nucleotide variant Uncertain significance rs886059433 GRCh38 Chromosome 4, 52022839: 52022839
45 SGCB NM_000232.4(SGCB): c.*1002G> A single nucleotide variant Uncertain significance rs543319107 GRCh37 Chromosome 4, 52889121: 52889121
46 SGCB NM_000232.4(SGCB): c.*1002G> A single nucleotide variant Uncertain significance rs543319107 GRCh38 Chromosome 4, 52022955: 52022955
47 SGCB NM_000232.4(SGCB): c.*669T> G single nucleotide variant Uncertain significance rs886059435 GRCh37 Chromosome 4, 52889454: 52889454
48 SGCB NM_000232.4(SGCB): c.*669T> G single nucleotide variant Uncertain significance rs886059435 GRCh38 Chromosome 4, 52023288: 52023288
49 SGCB NM_000232.4(SGCB): c.-25G> A single nucleotide variant Likely benign rs571169918 GRCh38 Chromosome 4, 52038284: 52038284
50 SGCB NM_000232.4(SGCB): c.-25G> A single nucleotide variant Likely benign rs571169918 GRCh37 Chromosome 4, 52904450: 52904450

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

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

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

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

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.33 SGCB SGCD SGCG
2 dystrophin-associated glycoprotein complex GO:0016010 9.26 SGCB SGCD
3 sarcoglycan complex GO:0016012 9.13 SGCB SGCD SGCG
4 dystroglycan complex GO:0016011 8.8 SGCB SGCD SGCG

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

# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.33 SGCB SGCD SGCG
2 cardiac muscle tissue development GO:0048738 9.32 SGCD SGCG
3 heart contraction GO:0060047 9.26 SGCD SGCG
4 muscle cell development GO:0055001 8.96 SGCD SGCG
5 muscle organ development GO:0007517 8.92 CAPN3 SGCB SGCD SGCG

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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