MCID: ATS299
MIFTS: 26

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

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

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

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

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 12 15
Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency 12
Muscular Dystrophy, Limb-Girdle, Type 2g 12
Lgmd2g 12

Classifications:



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Disease Ontology 12 DOID:0110281
ICD10 33 G71.0

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

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

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g, also known as limb-girdle muscular dystrophy due to telethonin deficiency, is related to muscular dystrophy, limb-girdle, autosomal recessive 7 and isolated hyperckemia. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g is TCAP (Titin-Cap), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy (DCM). Related phenotype is muscle.

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

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

(show all 29)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 7 31.9 CAPN3 DYSF MYOT TCAP
2 isolated hyperckemia 10.1 CAPN3 TCAP
3 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 DYSF SGCB
4 dysferlinopathy 10.0 CAPN3 DYSF
5 autosomal dominant limb-girdle muscular dystrophy type 1a 10.0 CAPN3 MYOT
6 autosomal dominant limb-girdle muscular dystrophy type 1f 10.0 MYOT SGCB
7 bethlem myopathy 1 10.0 CAPN3 DYSF
8 muscular dystrophy, limb-girdle, autosomal dominant 1 9.9 MYOT SGCB
9 myofibrillar myopathy 9.9 MYOT TCAP
10 myositis 9.9 CAPN3 DYSF
11 muscular dystrophy, limb-girdle, autosomal recessive 8 9.9 CAPN3 DYSF TCAP
12 muscular dystrophy-dystroglycanopathy , type c, 5 9.9 CAPN3 DYSF TCAP
13 autosomal recessive limb-girdle muscular dystrophy type 2j 9.8 CAPN3 MYOT SGCB
14 miyoshi muscular dystrophy 9.8 CAPN3 DYSF MYOT
15 myopathy 9.7 CAPN3 DYSF MYOT
16 autosomal recessive limb-girdle muscular dystrophy 9.6 CAPN3 DYSF SGCG TCAP
17 autosomal recessive limb-girdle muscular dystrophy type 2f 9.6 CAPN3 DYSF SGCB SGCG
18 autosomal recessive limb-girdle muscular dystrophy type 2d 9.6 CAPN3 DYSF SGCB SGCG
19 autosomal recessive limb-girdle muscular dystrophy type 2c 9.6 CAPN3 DYSF SGCB SGCG
20 autosomal recessive limb-girdle muscular dystrophy type 2b 9.6 CAPN3 DYSF SGCB SGCG
21 dilated cardiomyopathy 9.5 SGCB SGCG TCAP
22 autosomal recessive limb-girdle muscular dystrophy type 2h 9.5 CAPN3 MYOT SGCB SGCG
23 muscle tissue disease 9.5 CAPN3 DYSF MYOT SGCG
24 muscular dystrophy, limb-girdle, autosomal recessive 2 9.5 CAPN3 DYSF MYOT SGCB TCAP
25 muscular dystrophy, limb-girdle, autosomal recessive 6 9.4 CAPN3 DYSF SGCB SGCG TCAP
26 autosomal recessive limb-girdle muscular dystrophy type 2a 9.3 CAPN3 DYSF MYOT SGCB SGCG
27 muscular disease 9.3 CAPN3 DYSF MYOT SGCB SGCG
28 limb-girdle muscular dystrophy 9.2 CAPN3 DYSF MYOT SGCB SGCG TCAP
29 muscular dystrophy 9.2 CAPN3 DYSF MYOT SGCB SGCG TCAP

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



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

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

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

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

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

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

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

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

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

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

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

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

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

Pathways related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.2 CAPN3 SGCB SGCG
2
Show member pathways
11.19 SGCB SGCG

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

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.43 CAPN3 MYOT TCAP
2 T-tubule GO:0030315 9.32 CAPN3 DYSF
3 sarcoglycan complex GO:0016012 9.16 SGCB SGCG
4 dystroglycan complex GO:0016011 8.96 SGCB SGCG
5 sarcolemma GO:0042383 8.92 DYSF MYOT SGCB SGCG

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex assembly GO:0065003 9.32 CAPN3 TCAP
2 muscle contraction GO:0006936 9.26 DYSF MYOT
3 sarcomere organization GO:0045214 9.16 CAPN3 TCAP
4 muscle fiber development GO:0048747 8.96 DYSF SGCB
5 muscle organ development GO:0007517 8.8 CAPN3 SGCB SGCG

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy 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 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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