MCID: MSC122
MIFTS: 36

Muscular Dystrophy, Limb-Girdle, Type 2g

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

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

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 2g:

Name: Muscular Dystrophy, Limb-Girdle, Type 2g 57 12 53 13 73
Lgmd2g 57 12 53 59 75 55
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 12 59 15
Limb-Girdle Muscular Dystrophy, Type 2g 53 29 6
Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency 12 59
Dystrophy, Muscular, Limb-Girdle, Type 2g 40
Limb-Girdle Muscular Dystrophy 2g 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2g
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
mean age at onset 12.5 years (range 2 to 15 years)
genetic heterogeneity, see lgmd2a
allelic disorder to dilated cardiomyopathy 1n (cmd1n, )


HPO:

32
muscular dystrophy, limb-girdle, type 2g:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 601954
Disease Ontology 12 DOID:0110281
ICD10 33 G71.0
Orphanet 59 ORPHA34514
UMLS via Orphanet 74 C1866008
ICD10 via Orphanet 34 G71.0
MedGen 42 C1866008
MeSH 44 D049288
UMLS 73 C1866008

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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 34514Disease definitionAutosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.Visit the Orphanet disease page for more resources.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 2g, also known as lgmd2g, is related to autosomal recessive limb-girdle muscular dystrophy and limb-girdle muscular dystrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2g is TCAP (Titin-Cap). Related phenotypes are difficulty walking and areflexia of lower limbs

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding telethonin (TCAP).

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2G: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients.

Description from OMIM: 601954

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

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 Muscular Dystrophy, Limb-Girdle, Type 2g via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy 27.0 CAPN3 DYSF FKRP TCAP TRIM32
2 limb-girdle muscular dystrophy 25.9 CAPN3 DYSF FKRP MYOT TCAP TRIM32
3 muscular dystrophy 25.9 CAPN3 DYSF FKRP MYOT TCAP TRIM32
4 autosomal recessive limb-girdle muscular dystrophy type 2f 10.1 CAPN3 DYSF
5 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 CAPN3 FKRP
6 autosomal recessive limb-girdle muscular dystrophy type 2b 10.0 CAPN3 DYSF
7 muscular dystrophy, limb-girdle, type 1c 10.0 DYSF FKRP
8 muscular dystrophy, limb-girdle, type 2c 10.0 CAPN3 DYSF
9 muscular dystrophy, limb-girdle, type 2l 9.9 DYSF FKRP
10 dysferlinopathy 9.9 CAPN3 DYSF
11 bethlem myopathy 1 9.8 CAPN3 DYSF
12 muscular dystrophy, limb-girdle, type 1e 9.7 FKRP MYOT
13 myositis 9.7 CAPN3 DYSF
14 isolated hyperckemia 9.7 CAPN3 FKRP TCAP
15 muscular dystrophy, limb-girdle, type 2d 9.5 CAPN3 DYSF FKRP
16 muscular dystrophy, limb-girdle, type 2j 9.4 CAPN3 FKRP MYOT
17 distal muscular dystrophy 9.4 CAPN3 DYSF MYOT
18 autosomal dominant limb-girdle muscular dystrophy type 1c 9.3 DYSF FKRP MYOT
19 atrial standstill 1 9.2 FKRP MYOT
20 muscle tissue disease 8.8 CAPN3 DYSF FKRP MYOT
21 muscular dystrophy, limb-girdle, type 1a 8.5 CAPN3 FKRP MYOT TRIM32
22 muscular dystrophy, limb-girdle, type 2h 8.1 CAPN3 DYSF FKRP TCAP TRIM32
23 muscular dystrophy, limb-girdle, type 2f 8.1 CAPN3 DYSF FKRP TCAP TRIM32
24 muscular dystrophy-dystroglycanopathy , type c, 5 8.1 CAPN3 DYSF FKRP TCAP TRIM32
25 autosomal recessive limb-girdle muscular dystrophy type 2h 7.9 CAPN3 DYSF FKRP MYOT TRIM32
26 muscular dystrophy, limb-girdle, type 2b 7.4 CAPN3 DYSF FKRP MYOT TCAP TRIM32
27 myopathy 7.3 CAPN3 DYSF FKRP MYOT TCAP TRIM32

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



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2g

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 2g

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
proximal muscle weakness in lower limbs
increased connective tissue
rimmed vacuoles
difficulty climbing stairs
proximal muscle weakness in upper limbs
more
Cardiovascular Heart:
cardiac muscle is involved in a subset of patients

Laboratory Abnormalities:
increased serum creatine kinase
creatine kinase levels may normalize with disease progression


Clinical features from OMIM:

601954

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2g:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 difficulty walking 32 HP:0002355
2 areflexia of lower limbs 32 HP:0002522
3 elevated serum creatine phosphokinase 32 HP:0003236
4 difficulty climbing stairs 32 HP:0003551
5 increased variability in muscle fiber diameter 32 HP:0003557
6 muscular dystrophy 32 HP:0003560
7 rimmed vacuoles 32 HP:0003805
8 distal lower limb amyotrophy 32 HP:0008944
9 proximal upper limb amyotrophy 32 HP:0008948
10 calf muscle hypertrophy 32 HP:0008981
11 proximal muscle weakness in lower limbs 32 HP:0008994
12 proximal muscle weakness in upper limbs 32 HP:0008997
13 increased connective tissue 32 HP:0009025
14 foot dorsiflexor weakness 32 HP:0009027
15 difficulty running 32 HP:0009046
16 distal lower limb muscle weakness 32 HP:0009053

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 TRIM32 CAPN3 DYSF FKRP TCAP

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

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

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

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

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2g 29 TCAP

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

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

Articles related to Muscular Dystrophy, Limb-Girdle, Type 2g:

# Title Authors Year
1
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. ( 25298746 )
2014
2
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. ( 10655062 )
2000

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

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2g:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCAP NM_003673.3(TCAP): c.157C> T (p.Gln53Ter) single nucleotide variant Likely pathogenic rs104894655 GRCh37 Chromosome 17, 37822015: 37822015
2 TCAP NM_003673.3(TCAP): c.157C> T (p.Gln53Ter) single nucleotide variant Likely pathogenic rs104894655 GRCh38 Chromosome 17, 39665762: 39665762
3 TCAP NM_003673.3(TCAP): c.109_110delGG (p.Gly37Leufs) deletion Pathogenic rs786205076 GRCh37 Chromosome 17, 37821721: 37821722
4 TCAP NM_003673.3(TCAP): c.109_110delGG (p.Gly37Leufs) deletion Pathogenic rs786205076 GRCh38 Chromosome 17, 39665468: 39665469
5 TCAP NM_003673.3(TCAP): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic rs45495192 GRCh37 Chromosome 17, 37821644: 37821644
6 TCAP NM_003673.3(TCAP): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic rs45495192 GRCh38 Chromosome 17, 39665391: 39665391
7 TCAP NM_003673.3(TCAP): c.24_25insGAGGTGT (p.Ser11Terfs) insertion Likely pathogenic rs863224933 GRCh37 Chromosome 17, 37821636: 37821637
8 TCAP NM_003673.3(TCAP): c.24_25insGAGGTGT (p.Ser11Terfs) insertion Likely pathogenic rs863224933 GRCh38 Chromosome 17, 39665383: 39665384
9 TCAP NM_003673.3(TCAP): c.103G> T (p.Glu35Ter) single nucleotide variant Pathogenic rs779699520 GRCh37 Chromosome 17, 37821715: 37821715
10 TCAP NM_003673.3(TCAP): c.103G> T (p.Glu35Ter) single nucleotide variant Pathogenic rs779699520 GRCh38 Chromosome 17, 39665462: 39665462
11 TCAP NM_003673.3(TCAP): c.43_49dupTGTGAGC (p.Arg17Leufs) duplication Likely pathogenic rs886044421 GRCh37 Chromosome 17, 37821655: 37821661
12 TCAP NM_003673.3(TCAP): c.43_49dupTGTGAGC (p.Arg17Leufs) duplication Likely pathogenic rs886044421 GRCh38 Chromosome 17, 39665402: 39665408
13 TCAP NM_003673.3(TCAP): c.34dup (p.Glu12Glyfs) duplication Likely pathogenic GRCh38 Chromosome 17, 39665393: 39665393
14 TCAP NM_003673.3(TCAP): c.34dup (p.Glu12Glyfs) duplication Likely pathogenic GRCh37 Chromosome 17, 37821646: 37821646

Expression for Muscular Dystrophy, Limb-Girdle, Type 2g

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

Pathways for Muscular Dystrophy, Limb-Girdle, Type 2g

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 2g

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

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.16 CAPN3 DYSF
2 Z disc GO:0030018 9.13 CAPN3 MYOT TCAP
3 sarcolemma GO:0042383 8.8 DYSF FKRP MYOT

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.37 CAPN3 TRIM32
2 protein-containing complex assembly GO:0065003 9.32 CAPN3 TCAP
3 muscle contraction GO:0006936 9.26 DYSF MYOT
4 sarcomere organization GO:0045214 9.16 CAPN3 TCAP
5 muscle cell cellular homeostasis GO:0046716 8.96 CAPN3 TRIM32
6 positive regulation of proteolysis GO:0045862 8.62 CAPN3 TRIM32

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

# Name GO ID Score Top Affiliating Genes
1 titin binding GO:0031432 8.96 CAPN3 TCAP
2 structural constituent of muscle GO:0008307 8.8 CAPN3 MYOT TCAP

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

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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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