MCID: ATS299
MIFTS: 29

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 34 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 Cardiac conduction and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Related phenotypes are cardiovascular system and 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 2w
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x Limb-Girdle Muscular Dystrophy Type 1a
Limb-Girdle Muscular Dystrophy Type 1b Limb-Girdle Muscular Dystrophy Type 1c

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 7 31.4 TTN TCAP MYOT DYSF CAPN3
2 isolated hyperckemia 10.1 CAPN3 TCAP
3 dysferlinopathy 10.0 CAPN3 DYSF
4 tibial muscular dystrophy 10.0 CAPN3 TTN
5 familial isolated dilated cardiomyopathy 10.0 TCAP TTN
6 bethlem myopathy 1 10.0 CAPN3 DYSF
7 myopathy, myofibrillar, 3 9.9 TTN MYOT
8 rigid spine muscular dystrophy 1 9.9 DYSF TTN
9 autosomal recessive limb-girdle muscular dystrophy type 2l 9.9 DYSF SGCB
10 myopathy, spheroid body 9.9 MYOT TTN
11 myositis 9.8 TTN DYSF CAPN3
12 myofibrillar myopathy 9.7 TTN TCAP MYOT
13 muscular dystrophy, limb-girdle, autosomal dominant 1 9.7 MYOT SGCB
14 neuromuscular disease 9.7 TTN MYOT
15 autosomal recessive limb-girdle muscular dystrophy 9.7 TCAP SGCG DYSF CAPN3
16 muscular dystrophy, limb-girdle, autosomal recessive 8 9.6 TTN TCAP DYSF CAPN3
17 muscular dystrophy-dystroglycanopathy , type c, 5 9.6 TTN TCAP DYSF CAPN3
18 atrial standstill 1 9.6 TTN MYOT
19 miyoshi muscular dystrophy 9.5 CAPN3 DYSF MYOT TTN
20 muscle tissue disease 9.5 CAPN3 DYSF MYOT SGCG
21 myopathy 9.5 TTN MYOT DYSF CAPN3
22 autosomal recessive limb-girdle muscular dystrophy type 2f 9.4 SGCG SGCB DYSF CAPN3
23 autosomal recessive limb-girdle muscular dystrophy type 2d 9.4 SGCG SGCB DYSF CAPN3
24 autosomal recessive limb-girdle muscular dystrophy type 2c 9.4 SGCG SGCB DYSF CAPN3
25 autosomal recessive limb-girdle muscular dystrophy type 2b 9.4 SGCG SGCB DYSF CAPN3
26 dilated cardiomyopathy 9.3 TTN TCAP SGCG SGCB
27 autosomal recessive limb-girdle muscular dystrophy type 2j 9.3 TTN SGCB MYOT CAPN3
28 autosomal recessive limb-girdle muscular dystrophy type 2h 9.3 SGCG SGCB MYOT CAPN3
29 muscular dystrophy, limb-girdle, autosomal recessive 6 8.9 CAPN3 DYSF SGCB SGCG TCAP TTN
30 muscular dystrophy, limb-girdle, autosomal recessive 2 8.8 CAPN3 DYSF TTN TCAP SGCB MYOT
31 autosomal recessive limb-girdle muscular dystrophy type 2a 8.7 CAPN3 DYSF MYOT SGCB SGCG TTN
32 muscular disease 8.7 TTN SGCG SGCB MYOT DYSF CAPN3
33 muscular dystrophy 8.5 TTN TCAP SGCG SGCB MYOT DYSF
34 limb-girdle muscular dystrophy 8.5 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 CAPN3 SGCB SGCG TCAP TTN
2 muscle MP:0005369 9.1 CAPN3 DYSF SGCB SGCG TCAP TTN

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

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 sarcomere GO:0030017 9.4 TCAP TTN
2 T-tubule GO:0030315 9.37 CAPN3 DYSF
3 I band GO:0031674 9.32 TCAP TTN
4 sarcoglycan complex GO:0016012 9.26 SGCB SGCG
5 Z disc GO:0030018 9.26 CAPN3 MYOT TCAP TTN
6 dystroglycan complex GO:0016011 9.16 SGCB SGCG
7 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:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex assembly GO:0065003 9.57 CAPN3 TCAP
2 regulation of catalytic activity GO:0050790 9.56 CAPN3 TTN
3 response to calcium ion GO:0051592 9.55 CAPN3 TTN
4 cardiac muscle contraction GO:0060048 9.54 TCAP TTN
5 muscle filament sliding GO:0030049 9.52 TCAP TTN
6 cardiac muscle tissue morphogenesis GO:0055008 9.51 TCAP TTN
7 muscle contraction GO:0006936 9.5 DYSF MYOT TTN
8 cardiac myofibril assembly GO:0055003 9.49 TCAP TTN
9 cardiac muscle fiber development GO:0048739 9.48 TCAP TTN
10 skeletal muscle thin filament assembly GO:0030240 9.46 TCAP TTN
11 muscle fiber development GO:0048747 9.43 DYSF SGCB
12 muscle organ development GO:0007517 9.43 CAPN3 SGCB SGCG
13 cardiac muscle hypertrophy GO:0003300 9.4 TCAP TTN
14 skeletal muscle myosin thick filament assembly GO:0030241 9.37 TCAP TTN
15 detection of muscle stretch GO:0035995 9.16 TCAP TTN
16 sarcomerogenesis GO:0048769 8.96 TCAP TTN
17 sarcomere organization GO:0045214 8.8 CAPN3 TCAP TTN

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 8.92 CAPN3 MYOT TCAP TTN

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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