MCID: ATS299
MIFTS: 24

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:



External Ids:

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 limb-girdle muscular dystrophy. 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 Striated Muscle Contraction. Related phenotypes are cardiovascular system and homeostasis/metabolism

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 25 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 44)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 7 29.8 TTN TCAP MYOT FKRP DYSF CAPN3
2 limb-girdle muscular dystrophy 28.9 TTN TCAP SGCG MYOT FKRP DYSF
3 autosomal recessive limb-girdle muscular dystrophy 28.6 TCAP SGCG FKRP DYSF CAPN3
4 myopathy 28.4 TTN MYOT DYSF CAPN3
5 muscular dystrophy, limb-girdle, autosomal recessive 8 28.1 TTN TCAP FKRP DYSF CAPN3
6 muscular dystrophy, limb-girdle, autosomal recessive 6 27.4 TTN TCAP SGCG FKRP DYSF CAPN3
7 muscular dystrophy, limb-girdle, autosomal recessive 2 27.3 TTN TCAP MYOT FKRP DYSF CAPN3
8 muscular dystrophy 26.8 TTN TCAP SGCG MYOT FKRP DYSF
9 paresthesia 10.1 FKRP CAPN3
10 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1 FKRP DYSF
11 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
12 muscular dystrophy, limb-girdle, autosomal recessive 5 10.1
13 muscular dystrophy, duchenne type 10.1
14 muscular dystrophy, limb-girdle, autosomal recessive 4 10.1
15 muscular dystrophy, limb-girdle, autosomal recessive 3 10.1
16 muscle hypertrophy 10.1
17 trabecular myopathy 10.1
18 qualitative or quantitative defects of sarcoglycan 10.1
19 dysferlinopathy 10.1 DYSF CAPN3
20 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 FKRP CAPN3
21 bethlem myopathy 1 9.9 DYSF CAPN3
22 isolated hyperckemia 9.8 TCAP FKRP CAPN3
23 autosomal recessive limb-girdle muscular dystrophy type 2f 9.8 SGCG DYSF CAPN3
24 tibial muscular dystrophy 9.8 TTN CAPN3
25 autosomal recessive limb-girdle muscular dystrophy type 2c 9.7 SGCG DYSF CAPN3
26 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 SGCG DYSF CAPN3
27 familial isolated dilated cardiomyopathy 9.7 TTN TCAP
28 rigid spine muscular dystrophy 1 9.6 TTN DYSF
29 myopathy, myofibrillar, 3 9.6 TTN MYOT
30 myopathy, spheroid body 9.5 TTN MYOT
31 myositis 9.4 TTN DYSF CAPN3
32 muscular dystrophy, congenital, lmna-related 9.4 TTN FKRP
33 myofibrillar myopathy 9.3 TTN TCAP MYOT
34 autosomal recessive limb-girdle muscular dystrophy type 2d 9.3 SGCG FKRP DYSF CAPN3
35 atrial standstill 1 9.1 TTN MYOT FKRP
36 neuromuscular disease 9.1 TTN MYOT
37 autosomal recessive limb-girdle muscular dystrophy type 2h 9.1 SGCG MYOT FKRP CAPN3
38 miyoshi muscular dystrophy 8.9 TTN MYOT DYSF CAPN3
39 dilated cardiomyopathy 8.8 TTN TCAP SGCG FKRP
40 autosomal recessive limb-girdle muscular dystrophy type 2j 8.8 TTN MYOT FKRP CAPN3
41 muscle tissue disease 8.7 SGCG MYOT FKRP DYSF CAPN3
42 muscular dystrophy-dystroglycanopathy , type c, 5 8.7 TTN TCAP FKRP DYSF CAPN3
43 autosomal recessive limb-girdle muscular dystrophy type 2a 8.0 TTN SGCG MYOT FKRP DYSF CAPN3
44 muscular disease 7.9 TTN SGCG MYOT FKRP DYSF CAPN3

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 cardiovascular system MP:0005385 9.55 CAPN3 FKRP SGCG TCAP TTN
2 homeostasis/metabolism MP:0005376 9.43 CAPN3 DYSF FKRP SGCG TCAP TTN
3 muscle MP:0005369 9.1 CAPN3 DYSF FKRP 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

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

# Title Authors PMID Year
1
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. 38
29935994 2018
2
Functional muscle analysis of the Tcap knockout mouse. 38
20233748 2010

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 9.32 TTN TCAP
2 T-tubule GO:0030315 9.26 DYSF CAPN3
3 Z disc GO:0030018 9.26 TTN TCAP MYOT CAPN3
4 I band GO:0031674 9.16 TTN TCAP
5 sarcolemma GO:0042383 8.92 SGCG MYOT FKRP DYSF

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex assembly GO:0065003 9.56 TCAP CAPN3
2 muscle organ development GO:0007517 9.55 SGCG CAPN3
3 regulation of catalytic activity GO:0050790 9.54 TTN CAPN3
4 response to calcium ion GO:0051592 9.52 TTN CAPN3
5 cardiac muscle contraction GO:0060048 9.51 TTN TCAP
6 muscle filament sliding GO:0030049 9.49 TTN TCAP
7 cardiac muscle tissue morphogenesis GO:0055008 9.48 TTN TCAP
8 cardiac myofibril assembly GO:0055003 9.46 TTN TCAP
9 cardiac muscle fiber development GO:0048739 9.43 TTN TCAP
10 muscle contraction GO:0006936 9.43 TTN MYOT DYSF
11 skeletal muscle thin filament assembly GO:0030240 9.4 TTN TCAP
12 skeletal muscle myosin thick filament assembly GO:0030241 9.37 TTN TCAP
13 cardiac muscle hypertrophy GO:0003300 9.32 TTN TCAP
14 detection of muscle stretch GO:0035995 9.16 TTN TCAP
15 sarcomerogenesis GO:0048769 8.96 TTN TCAP
16 sarcomere organization GO:0045214 8.8 TTN TCAP CAPN3

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 TCAP CAPN3
2 structural constituent of muscle GO:0008307 8.92 TTN TCAP MYOT CAPN3

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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