LGMD2E
MCID: MSC176
MIFTS: 29

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 (LGMD2E)

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 57
Lgmd2e 57 59 75 55
Muscular Dystrophy, Limb-Girdle, Type 2e 57 13
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency 59
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 59
Muscular Dystrophy, Limb-Girdle, Type 2e; Lgmd2e 57
Limb-Girdle Muscular Dystrophy 2e 75
Beta-Sarcoglycanopathy 59
Lgmdr4 57

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2e
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (United Kingdom),<1/1000000 (Europe); Age of onset: Adolescent,Childhood; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
intrafamilial variability
variable progression
onset in childhood (range 4 to 12 years)
most patients become wheelchair-bound in the second to fourth decades


HPO:

32
muscular dystrophy, limb-girdle, autosomal recessive 4:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 604286
Orphanet 59 ORPHA119
UMLS via Orphanet 74 C1858593 C2930900
ICD10 via Orphanet 34 G71.0
MedGen 42 C1858593
MeSH 44 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4, also known as lgmd2e, is related to myopathy, autosomal recessive, with rigid spine and distal joint contractures and muscular dystrophy, limb-girdle, autosomal recessive 2. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 is SGCB (Sarcoglycan Beta). Affiliated tissues include skeletal muscle, and related phenotypes are elevated serum creatine phosphokinase and delayed speech and language development

Description from OMIM: 604286

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopathy, autosomal recessive, with rigid spine and distal joint contractures 11.7
2 muscular dystrophy, limb-girdle, autosomal recessive 2 11.7
3 muscular dystrophy 10.4
4 limb-girdle muscular dystrophy 10.4
5 maternal uniparental disomy of chromosome 4 10.4
6 dilated cardiomyopathy 10.1
7 myoglobinuria 10.1

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Muscle Soft Tissue:
proximal muscle atrophy
muscle weakness, proximal, limb-girdle
trunk muscle atrophy
calf pseudohypertrophy
skeletal muscle shows dystrophic changes
more
Laboratory Abnormalities:
increased serum creatine kinase

Cardiovascular Heart:
dilated cardiomyopathy (rare)


Clinical features from OMIM:

604286

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 59 32 Frequent (79-30%) HP:0003236
2 delayed speech and language development 59 Frequent (79-30%)
3 myopathy 59 Frequent (79-30%)
4 cardiomyopathy 59 Occasional (29-5%)
5 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
6 waddling gait 59 Frequent (79-30%)
7 scapular winging 32 HP:0003691
8 pelvic girdle muscle weakness 59 Frequent (79-30%)
9 difficulty walking 59 Frequent (79-30%)
10 muscular dystrophy 32 HP:0003560
11 myopathic facies 59 Frequent (79-30%)
12 limb-girdle muscle weakness 32 HP:0003325
13 increased variability in muscle fiber diameter 59 Frequent (79-30%)
14 proximal amyotrophy 32 HP:0007126
15 gowers sign 59 Frequent (79-30%)
16 calf muscle hypertrophy 59 Frequent (79-30%)
17 calf muscle pseudohypertrophy 32 HP:0003707
18 myoglobinuria 59 Occasional (29-5%)
19 broad-based gait 59 Frequent (79-30%)
20 pelvic girdle muscle atrophy 32 HP:0008988
21 shoulder girdle muscle atrophy 32 HP:0003724

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:

41
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:

# Title Authors Year
1
Systemic AAV-Mediated β-Sarcoglycan Delivery Targeting Cardiac and Skeletal Muscle Ameliorates Histological and Functional Deficits in LGMD2E Mice. ( 28284983 )
2017
2
Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. ( 21480868 )
2012
3
LGMD2E patients risk developing dilated cardiomyopathy. ( 12868499 )
2003

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 SGCB p.Arg91Leu VAR_010391 rs104893869
2 SGCB p.Arg91Pro VAR_010392 rs104893869
3 SGCB p.Met100Lys VAR_010393 rs104893871
4 SGCB p.Leu108Arg VAR_010394 rs104893870
5 SGCB p.Thr151Arg VAR_010395 rs28936383
6 SGCB p.Gln11Glu VAR_010421 rs752492870
7 SGCB p.Arg91Cys VAR_010422 rs555514820
8 SGCB p.Ser114Phe VAR_010423 rs150518260
9 SGCB p.Ile119Phe VAR_010424 rs762412447
10 SGCB p.Gly139Asp VAR_010425
11 SGCB p.Gly167Ser VAR_010426 rs779516489
12 SGCB p.Thr182Ala VAR_010427

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4:

6 (show top 50) (show all 145)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGCB NM_000232.4(SGCB): c.452C> G (p.Thr151Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28936383 GRCh37 Chromosome 4, 52895065: 52895065
2 SGCB NM_000232.4(SGCB): c.452C> G (p.Thr151Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28936383 GRCh38 Chromosome 4, 52028899: 52028899
3 SGCB NM_000232.4(SGCB): c.552T> G (p.Tyr184Ter) single nucleotide variant Likely pathogenic rs104893868 GRCh37 Chromosome 4, 52894965: 52894965
4 SGCB NM_000232.4(SGCB): c.552T> G (p.Tyr184Ter) single nucleotide variant Likely pathogenic rs104893868 GRCh38 Chromosome 4, 52028799: 52028799
5 SGCB SGCB, 8-BP DUP, NT383 duplication Pathogenic
6 SGCB SGCB, 2-BP DEL, NT465 deletion Pathogenic
7 SGCB NM_000232.4(SGCB): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs104893869 GRCh37 Chromosome 4, 52896001: 52896001
8 SGCB NM_000232.4(SGCB): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs104893869 GRCh38 Chromosome 4, 52029835: 52029835
9 SGCB NM_000232.4(SGCB): c.323T> G (p.Leu108Arg) single nucleotide variant Pathogenic rs104893870 GRCh37 Chromosome 4, 52895950: 52895950
10 SGCB NM_000232.4(SGCB): c.323T> G (p.Leu108Arg) single nucleotide variant Pathogenic rs104893870 GRCh38 Chromosome 4, 52029784: 52029784
11 SGCB NM_000232.4(SGCB): c.299T> A (p.Met100Lys) single nucleotide variant Likely pathogenic rs104893871 GRCh37 Chromosome 4, 52895974: 52895974
12 SGCB NM_000232.4(SGCB): c.299T> A (p.Met100Lys) single nucleotide variant Likely pathogenic rs104893871 GRCh38 Chromosome 4, 52029808: 52029808
13 SGCB NM_000232.4(SGCB): c.272G> T (p.Arg91Leu) single nucleotide variant Likely pathogenic rs104893869 GRCh37 Chromosome 4, 52896001: 52896001
14 SGCB NM_000232.4(SGCB): c.272G> T (p.Arg91Leu) single nucleotide variant Likely pathogenic rs104893869 GRCh38 Chromosome 4, 52029835: 52029835
15 SGCB SGCB, 4-BP DEL, 243+3GAGT deletion Pathogenic
16 SGCB NM_000232.4(SGCB): c.341C> T (p.Ser114Phe) single nucleotide variant Pathogenic/Likely pathogenic rs150518260 GRCh37 Chromosome 4, 52895932: 52895932
17 SGCB NM_000232.4(SGCB): c.341C> T (p.Ser114Phe) single nucleotide variant Pathogenic/Likely pathogenic rs150518260 GRCh38 Chromosome 4, 52029766: 52029766
18 SGCB NM_000232.4(SGCB): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs398123262 GRCh38 Chromosome 4, 52038259: 52038259
19 SGCB NM_000232.4(SGCB): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs398123262 GRCh37 Chromosome 4, 52904425: 52904425
20 SGCB NM_000232.4(SGCB): c.151C> T (p.Arg51Cys) single nucleotide variant Uncertain significance rs144743676 GRCh37 Chromosome 4, 52899689: 52899689
21 SGCB NM_000232.4(SGCB): c.151C> T (p.Arg51Cys) single nucleotide variant Uncertain significance rs144743676 GRCh38 Chromosome 4, 52033523: 52033523
22 SGCB NM_000232.4(SGCB): c.92G> T (p.Ser31Ile) single nucleotide variant Benign/Likely benign rs115928999 GRCh37 Chromosome 4, 52899748: 52899748
23 SGCB NM_000232.4(SGCB): c.92G> T (p.Ser31Ile) single nucleotide variant Benign/Likely benign rs115928999 GRCh38 Chromosome 4, 52033582: 52033582
24 SGCB NM_000232.4(SGCB): c.21_23dupGGC (p.Ala9_Glu10insAla) duplication Uncertain significance rs781364428 GRCh37 Chromosome 4, 52904403: 52904405
25 SGCB NM_000232.4(SGCB): c.21_23dupGGC (p.Ala9_Glu10insAla) duplication Uncertain significance rs781364428 GRCh38 Chromosome 4, 52038237: 52038239
26 SGCB NM_000232.4(SGCB): c.32dupA (p.Gln12Alafs) duplication Pathogenic rs796065319 GRCh37 Chromosome 4, 52904394: 52904394
27 SGCB NM_000232.4(SGCB): c.32dupA (p.Gln12Alafs) duplication Pathogenic rs796065319 GRCh38 Chromosome 4, 52038228: 52038228
28 SGCB NM_000232.4(SGCB): c.794C> T (p.Thr265Ile) single nucleotide variant Uncertain significance rs116214830 GRCh37 Chromosome 4, 52890286: 52890286
29 SGCB NM_000232.4(SGCB): c.794C> T (p.Thr265Ile) single nucleotide variant Uncertain significance rs116214830 GRCh38 Chromosome 4, 52024120: 52024120
30 SGCB NM_000232.4(SGCB): c.31C> G (p.Gln11Glu) single nucleotide variant Uncertain significance rs752492870 GRCh37 Chromosome 4, 52904395: 52904395
31 SGCB NM_000232.4(SGCB): c.31C> G (p.Gln11Glu) single nucleotide variant Uncertain significance rs752492870 GRCh38 Chromosome 4, 52038229: 52038229
32 SGCB NM_000232.4(SGCB): c.355A> T (p.Ile119Phe) single nucleotide variant Uncertain significance rs762412447 GRCh37 Chromosome 4, 52895918: 52895918
33 SGCB NM_000232.4(SGCB): c.355A> T (p.Ile119Phe) single nucleotide variant Uncertain significance rs762412447 GRCh38 Chromosome 4, 52029752: 52029752
34 SGCB NM_000232.4(SGCB): c.1_2delAT (p.Met1Glyfs) deletion Pathogenic rs886042503 GRCh37 Chromosome 4, 52904424: 52904425
35 SGCB NM_000232.4(SGCB): c.1_2delAT (p.Met1Glyfs) deletion Pathogenic rs886042503 GRCh38 Chromosome 4, 52038258: 52038259
36 SGCB NM_000232.4(SGCB): c.799C> T (p.Arg267Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200761715 GRCh37 Chromosome 4, 52890281: 52890281
37 SGCB NM_000232.4(SGCB): c.799C> T (p.Arg267Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200761715 GRCh38 Chromosome 4, 52024115: 52024115
38 SGCB NM_000232.4(SGCB): c.572delT (p.Leu191Cysfs) deletion Pathogenic rs886042546 GRCh37 Chromosome 4, 52894945: 52894945
39 SGCB NM_000232.4(SGCB): c.572delT (p.Leu191Cysfs) deletion Pathogenic rs886042546 GRCh38 Chromosome 4, 52028779: 52028779
40 SGCB NM_000232.4(SGCB): c.838G> A (p.Gly280Ser) single nucleotide variant Uncertain significance rs879945095 GRCh37 Chromosome 4, 52890242: 52890242
41 SGCB NM_000232.4(SGCB): c.838G> A (p.Gly280Ser) single nucleotide variant Uncertain significance rs879945095 GRCh38 Chromosome 4, 52024076: 52024076
42 SGCB NM_000232.4(SGCB): c.31C> T (p.Gln11Ter) single nucleotide variant Pathogenic/Likely pathogenic rs752492870 GRCh37 Chromosome 4, 52904395: 52904395
43 SGCB NM_000232.4(SGCB): c.31C> T (p.Gln11Ter) single nucleotide variant Pathogenic/Likely pathogenic rs752492870 GRCh38 Chromosome 4, 52038229: 52038229
44 SGCB NM_000232.4(SGCB): c.392G> A (p.Arg131Gln) single nucleotide variant Uncertain significance rs201439705 GRCh37 Chromosome 4, 52895881: 52895881
45 SGCB NM_000232.4(SGCB): c.392G> A (p.Arg131Gln) single nucleotide variant Uncertain significance rs201439705 GRCh38 Chromosome 4, 52029715: 52029715
46 SGCB NM_000232.4(SGCB): c.502A> G (p.Met168Val) single nucleotide variant Uncertain significance rs754465904 GRCh37 Chromosome 4, 52895015: 52895015
47 SGCB NM_000232.4(SGCB): c.502A> G (p.Met168Val) single nucleotide variant Uncertain significance rs754465904 GRCh38 Chromosome 4, 52028849: 52028849
48 SGCB NM_000232.4(SGCB): c.496A> G (p.Ile166Val) single nucleotide variant Uncertain significance rs138877636 GRCh37 Chromosome 4, 52895021: 52895021
49 SGCB NM_000232.4(SGCB): c.496A> G (p.Ile166Val) single nucleotide variant Uncertain significance rs138877636 GRCh38 Chromosome 4, 52028855: 52028855
50 SGCB NM_000232.4(SGCB): c.699_702delCATT (p.Phe233Leufs) deletion Likely pathogenic rs1057516515 GRCh38 Chromosome 4, 52028019: 52028022

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4

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