MCID: MSC122
MIFTS: 37

Muscular Dystrophy, Limb-Girdle, Type 2g

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Muscle diseases, Neuronal 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 53 12 49 13 69
Lgmd2g 53 12 49 55 71 51
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 12 55 14
Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency 12 55
Limb-Girdle Muscular Dystrophy, Type 2g 49 28
Limb-Girdle Muscular Dystrophy 2g 71

Characteristics:

Orphanet epidemiological data:

55
autosomal recessive limb-girdle muscular dystrophy type 2g
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM:

53
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:

31
muscular dystrophy, limb-girdle, type 2g:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 601954
Disease Ontology 12 DOID:0110281
ICD10 32 G71.0
Orphanet 55 ORPHA34514
UMLS via Orphanet 70 C1866008
ICD10 via Orphanet 33 G71.0
MedGen 39 C1866008
MeSH 41 D049288
UMLS 69 C1866008

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

UniProtKB/Swiss-Prot : 71 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.

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, and has symptoms including elevated serum creatine phosphokinase, areflexia of lower limbs and difficulty walking. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2g is TCAP (Titin-Cap). Related phenotype is muscle.

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

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Limb-girdle muscular dystrophy.

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 28.0 CAPN3 DYSF FKRP TCAP TRIM32
2 limb-girdle muscular dystrophy 27.4 CAPN3 DYSF FKRP MYOT TCAP TRIM32
3 muscular dystrophy 27.3 CAPN3 DYSF FKRP MYOT TCAP TRIM32
4 autosomal recessive limb-girdle muscular dystrophy type 2f 10.0 CAPN3 DYSF
5 miyoshi muscular dystrophy 1 10.0 CAPN3 DYSF
6 muscular dystrophy, limb-girdle, type 2c 10.0 CAPN3 DYSF
7 muscular dystrophy, limb-girdle, type 1c 10.0 DYSF FKRP
8 autosomal recessive limb-girdle muscular dystrophy type 2b 9.9 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 isolated hyperckemia 9.8 CAPN3 FKRP TCAP
13 muscular dystrophy, limb-girdle, type 1e 9.7 FKRP MYOT
14 muscular dystrophy, limb-girdle, type 2d 9.7 CAPN3 DYSF FKRP
15 myositis 9.6 CAPN3 DYSF
16 muscular dystrophy, limb-girdle, type 2j 9.6 CAPN3 FKRP MYOT
17 distal muscular dystrophy 9.6 CAPN3 DYSF MYOT
18 autosomal dominant limb-girdle muscular dystrophy type 1c 9.6 DYSF FKRP MYOT
19 muscle tissue disease 9.2 CAPN3 DYSF FKRP MYOT
20 muscular dystrophy, limb-girdle, type 1a 9.0 CAPN3 FKRP MYOT TRIM32
21 muscular dystrophy, limb-girdle, type 2h 8.8 CAPN3 DYSF FKRP TCAP TRIM32
22 muscular dystrophy, limb-girdle, type 2f 8.8 CAPN3 DYSF FKRP TCAP TRIM32
23 muscular dystrophy-dystroglycanopathy , type c, 5 8.8 CAPN3 DYSF FKRP TCAP TRIM32
24 autosomal recessive limb-girdle muscular dystrophy type 2h 8.7 CAPN3 DYSF FKRP MYOT TRIM32
25 muscular dystrophy, limb-girdle, type 2b 8.4 CAPN3 DYSF FKRP MYOT TCAP TRIM32
26 muscular dystrophy, limb-girdle, type 2a 8.4 CAPN3 DYSF FKRP MYOT TCAP TRIM32
27 myopathy 8.3 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:

53
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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 31 HP:0003236
2 areflexia of lower limbs 31 HP:0002522
3 difficulty walking 31 HP:0002355
4 proximal muscle weakness in lower limbs 31 HP:0008994
5 muscular dystrophy 31 HP:0003560
6 increased connective tissue 31 HP:0009025
7 rimmed vacuoles 31 HP:0003805
8 difficulty climbing stairs 31 HP:0003551
9 increased variability in muscle fiber diameter 31 HP:0003557
10 calf muscle hypertrophy 31 HP:0008981
11 foot dorsiflexor weakness 31 HP:0009027
12 proximal muscle weakness in upper limbs 31 HP:0008997
13 distal lower limb amyotrophy 31 HP:0008944
14 difficulty running 31 HP:0009046
15 distal lower limb muscle weakness 31 HP:0009053
16 proximal upper limb amyotrophy 31 HP:0008948

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CAPN3 DYSF FKRP TCAP TRIM32

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 28 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
3
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. ( 10069710 )
1999

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TCAP NM_003673.3(TCAP): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic rs45495192 GRCh37 Chromosome 17, 37821644: 37821644
2 TCAP NM_003673.3(TCAP): c.157C> T (p.Gln53Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894655 GRCh37 Chromosome 17, 37822015: 37822015
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.24_25insGAGGTGT (p.Ser11Terfs) insertion Likely pathogenic rs863224933 GRCh37 Chromosome 17, 37821636: 37821637
5 TCAP NM_003673.3(TCAP): c.103G> T (p.Glu35Ter) single nucleotide variant Pathogenic rs779699520 GRCh37 Chromosome 17, 37821715: 37821715
6 TCAP NM_003673.3(TCAP): c.43_49dupTGTGAGC (p.Arg17Leufs) duplication Likely pathogenic rs886044421 GRCh37 Chromosome 17, 37821655: 37821661

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 complex assembly GO:0006461 9.32 CAPN3 TCAP
3 muscle contraction GO:0006936 9.26 DYSF MYOT
4 sarcomere organization GO:0045214 9.16 CAPN3 TCAP
5 positive regulation of proteolysis GO:0045862 8.96 CAPN3 TRIM32
6 muscle cell cellular homeostasis GO:0046716 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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