MCID: ATS299
MIFTS: 27

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 32 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 muscular dystrophy, limb-girdle, autosomal recessive 8. 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). Affiliated tissues include eye and brain, and 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 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 7 31.4 TTN TRIM32 TCAP MYOT FKRP DYSF
2 muscular dystrophy, limb-girdle, autosomal recessive 8 29.1 TTN TRIM32 TCAP FKRP DYSF CAPN3
3 muscular dystrophy, duchenne type 28.7 TTN TCAP SGCD SGCA CAV3
4 limb-girdle muscular dystrophy 28.2 TTN TRIM32 TCAP SGCG SGCD SGCA
5 muscular dystrophy, limb-girdle, autosomal recessive 6 27.7 TTN TRIM32 TCAP SGCG SGCD SGCA
6 myopathy 26.8 TTN TRIM32 TCAP SGCA MYOT FKRP
7 muscular dystrophy 26.1 TTN TRIM32 TCAP SGCG SGCD SGCA
8 autosomal recessive limb-girdle muscular dystrophy 25.9 TTN TRIM32 TCAP SGCG SGCD SGCA
9 muscular dystrophy, limb-girdle, autosomal recessive 2 25.9 TTN TRIM32 TCAP SGCG SGCD SGCA
10 paresthesia 10.3 FKRP CAPN3
11 dysferlinopathy 10.3 DYSF CAPN3
12 polyglucosan body myopathy 1 with or without immunodeficiency 10.2 FKRP CAPN3
13 autosomal recessive limb-girdle muscular dystrophy type 2w 10.1 MYOT ANO5
14 myopathy, myofibrillar, 5 10.1 TTN MYOT
15 muscular dystrophy-dystroglycanopathy , type a, 4 10.1 FKRP DYSF DCAF8
16 reducing body myopathy 10.1 TTN TCAP MYOT
17 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
18 muscular dystrophy, limb-girdle, autosomal recessive 5 10.1
19 muscular dystrophy, limb-girdle, autosomal recessive 4 10.1
20 muscular dystrophy, limb-girdle, autosomal recessive 3 10.1
21 muscle hypertrophy 10.1
22 qualitative or quantitative defects of sarcoglycan 10.1
23 myopathy, myofibrillar, 1 10.1 TTN MYOT DCAF8
24 muscular dystrophy-dystroglycanopathy , type c, 2 10.1 FKRP ANO5
25 muscular dystrophy-dystroglycanopathy , type c, 3 10.1 FKRP ANO5
26 congenital fiber-type disproportion 10.0 TTN MYOT DYSF
27 muscular dystrophy-dystroglycanopathy , type c, 9 10.0 MYOT DYSF ANO5
28 congenital structural myopathy 10.0 TTN MYOT
29 miyoshi muscular dystrophy 3 10.0 DYSF CAPN3 ANO5
30 familial isolated dilated cardiomyopathy 10.0 TTN TCAP SGCD
31 myopathy, spheroid body 10.0 TRIM32 TCAP MYOT
32 myositis 9.9 TTN DYSF CAPN3
33 muscular dystrophy, congenital merosin-deficient, 1a 9.9 SGCA FKRP DYSF
34 muscular dystrophy, limb-girdle, type 1h 9.9 MYOT CAV3
35 left ventricular noncompaction 9.9 TTN TCAP MYOT
36 total anomalous pulmonary venous return 1 9.8 SGCD ANKRD2
37 muscle eye brain disease 9.8 SGCA FKRP
38 ullrich congenital muscular dystrophy 1 9.7 SGCA FKRP DYSF CAPN3
39 rippling muscle disease 2 9.7 FKRP DYSF CAV3
40 glycogen storage disease ii 9.7 FKRP DCAF8 CAV3
41 rigid spine muscular dystrophy 1 9.7 TTN MYOT FKRP DYSF CAPN3
42 facioscapulohumeral muscular dystrophy 1 9.7 TTN MYOT FKRP DYSF CAPN3
43 isolated elevated serum creatine phosphokinase levels 9.6 TCAP CAV3 ANO5
44 creatine phosphokinase, elevated serum 9.6 TCAP CAV3 ANO5
45 centronuclear myopathy 9.6 TTN DYSF CAV3
46 autosomal recessive limb-girdle muscular dystrophy type 2x 9.4 MYOT DYSF CAV3 ANO5
47 intrinsic cardiomyopathy 9.4 TTN TCAP SGCD CAV3
48 autosomal dominant limb-girdle muscular dystrophy 9.4 MYOT CAV3 CAPN3 ANO5
49 hypertrophic cardiomyopathy 9.3 TTN TCAP SGCD CAV3
50 muscular dystrophy, limb-girdle, autosomal dominant 3 9.3 SGCD MYOT CAV3 ANO5

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.81 ANKRD2 CAPN3 CAV3 FKRP SGCA SGCD
2 homeostasis/metabolism MP:0005376 9.7 ANO5 CAPN3 CAV3 DYSF FKRP SGCA
3 muscle MP:0005369 9.4 ANKRD2 ANO5 CAPN3 CAV3 DYSF FKRP

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

MalaCards organs/tissues related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g:

40
Eye, Brain

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. 61
29935994 2018
2
Functional muscle analysis of the Tcap knockout mouse. 61
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 cytoplasm GO:0005737 10.21 TTN TRIM32 TCAP SGCG SGCD SGCA
2 Z disc GO:0030018 9.65 TTN TCAP MYOT CAV3 CAPN3
3 sarcomere GO:0030017 9.63 TTN TCAP ANKRD2
4 T-tubule GO:0030315 9.58 DYSF CAV3 CAPN3
5 I band GO:0031674 9.54 TTN TCAP ANKRD2
6 dystrophin-associated glycoprotein complex GO:0016010 9.5 SGCD SGCA CAV3
7 sarcoglycan complex GO:0016012 9.33 SGCG SGCD SGCA
8 sarcolemma GO:0042383 9.17 SGCG SGCD SGCA MYOT FKRP DYSF
9 dystroglycan complex GO:0016011 9.13 SGCG SGCD SGCA

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.61 TTN TCAP SGCD
2 muscle filament sliding GO:0030049 9.6 TTN TCAP
3 skeletal muscle tissue regeneration GO:0043403 9.59 SGCA DYSF
4 cardiac muscle tissue development GO:0048738 9.58 SGCG SGCD
5 positive regulation of proteolysis GO:0045862 9.58 TRIM32 CAPN3
6 sarcomere organization GO:0045214 9.58 TTN TCAP CAPN3
7 heart contraction GO:0060047 9.57 SGCG SGCD
8 cardiac myofibril assembly GO:0055003 9.56 TTN TCAP
9 cardiac muscle tissue morphogenesis GO:0055008 9.55 TTN TCAP
10 plasma membrane repair GO:0001778 9.54 DYSF CAV3
11 cardiac muscle hypertrophy GO:0003300 9.52 TTN TCAP
12 regulation of calcium ion import GO:0090279 9.51 DYSF CAV3
13 muscle cell cellular homeostasis GO:0046716 9.5 TRIM32 CAV3 CAPN3
14 skeletal muscle thin filament assembly GO:0030240 9.49 TTN TCAP
15 T-tubule organization GO:0033292 9.48 DYSF CAV3
16 skeletal muscle myosin thick filament assembly GO:0030241 9.46 TTN TCAP
17 cardiac muscle fiber development GO:0048739 9.43 TTN TCAP SGCD
18 muscle contraction GO:0006936 9.43 TTN SGCA MYOT DYSF CAV3 ANKRD2
19 sarcomerogenesis GO:0048769 9.37 TTN TCAP
20 detection of muscle stretch GO:0035995 9.33 TTN TCAP CAV3
21 muscle organ development GO:0007517 9.1 SGCG SGCD SGCA CAV3 CAPN3 ANKRD2

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 alpha-tubulin binding GO:0043014 9.16 DYSF CAV3
2 titin binding GO:0031432 9.13 TCAP CAPN3 ANKRD2
3 structural constituent of muscle GO:0008307 9.02 TTN TCAP MYOT CAPN3 ANKRD2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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