MCID: ATS299
MIFTS: 32

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 29 6 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 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, duchenne type. 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 behavior/neurological and cardiovascular system

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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 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 105)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 7 31.6 TTN TRIM32 TCAP MYOT FKRP DYSF
2 muscular dystrophy, duchenne type 29.4 TTN TCAP SGCD SGCA CAV3
3 muscular dystrophy, limb-girdle, autosomal recessive 8 29.3 TTN TRIM32 TCAP FKRP DYSF CAPN3
4 muscular dystrophy, limb-girdle, autosomal recessive 6 28.1 TTN TRIM32 TCAP SGCG SGCD SGCA
5 limb-girdle muscular dystrophy 27.7 TTN TRIM32 TCAP SGCG SGCD SGCA
6 autosomal recessive limb-girdle muscular dystrophy 26.0 TTN TRIM32 TCAP SGCG SGCD SGCA
7 muscular dystrophy, limb-girdle, autosomal recessive 2 26.0 TTN TRIM32 TCAP SGCG SGCD SGCA
8 muscular dystrophy 25.7 TTN TRIM32 TCAP SGCG SGCD SGCA
9 myopathy 25.4 TTN TRIM32 TCAP SGCG SGCD SGCA
10 dysferlinopathy 10.4 DYSF CAPN3
11 muscular dystrophy-dystroglycanopathy , type c, 9 10.4 MYOT DYSF
12 myopathy, myofibrillar, 4 10.3 TCAP MYOT
13 paresthesia 10.3 FKRP CAPN3
14 autosomal recessive limb-girdle muscular dystrophy type 2w 10.3 MYOT ANO5
15 polyglucosan body myopathy 1 with or without immunodeficiency 10.3 FKRP CAPN3
16 muscular dystrophy, limb-girdle, type 1h 10.3 MYOT CAV3
17 reducing body myopathy 1a 10.2 TTN TCAP MYOT
18 hyaline body myopathy 10.2 TTN MYOT
19 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 TTN LMNA
20 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 TTN LMNA
21 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 TTN LMNA
22 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
23 muscular dystrophy, limb-girdle, autosomal recessive 5 10.1
24 muscular dystrophy, limb-girdle, autosomal recessive 4 10.1
25 muscular dystrophy, limb-girdle, autosomal recessive 3 10.1
26 muscle hypertrophy 10.1
27 myopathy, x-linked, with postural muscle atrophy 10.1 MYOT LMNA
28 rippling muscle disease 2 10.1 FKRP DYSF CAV3
29 familial isolated dilated cardiomyopathy 10.1 TTN TCAP SGCD
30 muscular dystrophy, limb-girdle, autosomal dominant 3 10.1 MYOT CAV3 ANO5
31 centronuclear myopathy 10.1 TTN DYSF CAV3
32 myositis 10.0 TTN DYSF CAPN3
33 glycogen storage disease ii 10.0 FKRP CAV3 CAPN3
34 x-linked recessive disease 10.0 SGCG SGCA DYSF
35 myopathy, spheroid body 10.0 TRIM32 TCAP MYOT
36 myopathy, myofibrillar, 9, with early respiratory failure 10.0 TTN TCAP MYOT CAPN3
37 autosomal recessive limb-girdle muscular dystrophy type 2q 10.0 TCAP MYOT DYSF ANO5
38 cardiomyopathy, dilated, 1b 10.0 TTN LMNA
39 progressive muscular atrophy 10.0 CAV3 CAPN3
40 cardiomyopathy, dilated, 1a 9.9 MYOT LMNA
41 congenital muscular dystrophy without intellectual disability 9.9 POMT1 FKRP
42 congenital muscular dystrophy with intellectual disability 9.9 POMT1 FKRP
43 congenital muscular dystrophy with cerebellar involvement 9.9 POMT1 FKRP
44 congenital muscular dystrophy-dystroglycanopathy type a 9.9 POMT1 FKRP
45 congenital muscular dystrophy-dystroglycanopathy type a1 9.9 POMT1 FKRP
46 autosomal recessive limb-girdle muscular dystrophy type 2x 9.9 MYOT DYSF CAV3 ANO5
47 cardiomyopathy, dilated, 1g 9.9 TTN POMT1
48 creatine phosphokinase, elevated serum 9.9 TCAP CAV3 CAPN3 ANO5
49 congenital structural myopathy 9.8 TTN MYOT
50 cardiomyopathy, dilated, 1d 9.8 POMT1 FKRP

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 behavior/neurological MP:0005386 9.96 ANO5 DYSF FKRP LMNA POMT1 SGCD
2 cardiovascular system MP:0005385 9.9 ANKRD2 CAPN3 CAV3 FKRP LMNA POMT1
3 homeostasis/metabolism MP:0005376 9.73 ANO5 CAPN3 CAV3 DYSF FKRP LMNA
4 muscle MP:0005369 9.47 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

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

# Genetic test Affiliating Genes
1 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 29 TCAP

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. 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

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

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCAP NM_003673.3(TCAP):c.110_110+1deldeletion Pathogenic 5526 rs786205076 17:37821720-37821721 17:39665467-39665468
2 TCAP NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)SNV Likely pathogenic 5525 rs104894655 17:37822015-37822015 17:39665762-39665762
3 TCAP NM_003673.3(TCAP):c.34dup (p.Glu12fs)duplication Likely pathogenic 522598 rs1555606959 17:37821644-37821645 17:39665391-39665392
4 TCAP NM_003673.4(TCAP):c.75G>A (p.Trp25Ter)SNV Likely pathogenic 813977 17:37821687-37821687 17:39665434-39665434
5 TCAP NM_003673.3(TCAP):c.32C>A (p.Ser11Ter)SNV Likely pathogenic 140582 rs45495192 17:37821644-37821644 17:39665391-39665391
6 TCAP NM_003673.3(TCAP):c.25_31dup (p.Ser11Ter)duplication Likely pathogenic 217014 rs863224933 17:37821636-37821637 17:39665383-39665384
7 TCAP NM_003673.4(TCAP):c.32C>T (p.Ser11Leu)SNV Conflicting interpretations of pathogenicity 177939 rs45495192 17:37821644-37821644 17:39665391-39665391
8 TCAP NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)SNV Conflicting interpretations of pathogenicity 191776 rs146906267 17:37822171-37822171 17:39665918-39665918
9 TCAP NM_003673.4(TCAP):c.458G>A (p.Arg153His)SNV Conflicting interpretations of pathogenicity 44710 rs149585781 17:37822316-37822316 17:39666063-39666063
10 TCAP NM_003673.4(TCAP):c.60C>G (p.Ala20=)SNV Conflicting interpretations of pathogenicity 44714 rs146502276 17:37821672-37821672 17:39665419-39665419
11 TCAP NM_003673.4(TCAP):c.*54G>ASNV Conflicting interpretations of pathogenicity 889706 17:37822416-37822416 17:39666163-39666163
12 TCAP NM_003673.3(TCAP):c.282C>T (p.Phe94=)SNV Conflicting interpretations of pathogenicity 464947 rs749565002 17:37822140-37822140 17:39665887-39665887
13 TCAP NM_003673.4(TCAP):c.*128G>ASNV Uncertain significance 889707 17:37822490-37822490 17:39666237-39666237
14 TCAP NM_003673.4(TCAP):c.*199G>TSNV Uncertain significance 889708 17:37822561-37822561 17:39666308-39666308
15 TCAP NM_003673.4(TCAP):c.*395C>TSNV Uncertain significance 891260 17:37822757-37822757 17:39666504-39666504
16 TCAP NM_003673.4(TCAP):c.*418C>TSNV Uncertain significance 892449 17:37822780-37822780 17:39666527-39666527
17 TCAP NM_003673.4(TCAP):c.388C>T (p.Arg130Cys)SNV Uncertain significance 44708 rs374886575 17:37822246-37822246 17:39665993-39665993
18 TCAP NM_003673.3(TCAP):c.113G>T (p.Cys38Phe)SNV Uncertain significance 202108 rs375310569 17:37821971-37821971 17:39665718-39665718
19 TCAP NM_003673.3(TCAP):c.421C>G (p.Pro141Ala)SNV Uncertain significance 180535 rs45509691 17:37822279-37822279 17:39666026-39666026
20 TCAP NM_003673.3(TCAP):c.313G>A (p.Glu105Lys)SNV Uncertain significance 288969 rs146906267 17:37822171-37822171 17:39665918-39665918
21 TCAP NM_003673.3(TCAP):c.111-13C>ASNV Uncertain significance 323045 rs773913117 17:37821956-37821956 17:39665703-39665703
22 TCAP NM_003673.3(TCAP):c.111-13C>TSNV Uncertain significance 323046 rs773913117 17:37821956-37821956 17:39665703-39665703
23 TCAP NM_003673.3(TCAP):c.*76G>TSNV Uncertain significance 323047 rs45506294 17:37822438-37822438 17:39666185-39666185
24 TCAP NM_003673.3(TCAP):c.*292G>ASNV Uncertain significance 323048 rs185210946 17:37822654-37822654 17:39666401-39666401
25 TCAP NM_003673.3(TCAP):c.*297C>TSNV Uncertain significance 323049 rs772638575 17:37822659-37822659 17:39666406-39666406
26 TCAP NM_003673.3(TCAP):c.*377G>CSNV Benign/Likely benign 323050 rs3194794 17:37822739-37822739 17:39666486-39666486
27 TCAP NM_003673.4(TCAP):c.453A>C (p.Ala151=)SNV Benign/Likely benign 44709 rs1053651 17:37822311-37822311 17:39666058-39666058
28 TCAP NM_003673.4(TCAP):c.316C>T (p.Arg106Cys)SNV Benign/Likely benign 44706 rs45578741 17:37822174-37822174 17:39665921-39665921

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 10.2 TTN TRIM32 TCAP SGCG SGCD SGCA
2 Z disc GO:0030018 9.65 TTN TCAP MYOT CAV3 CAPN3
3 sarcomere GO:0030017 9.61 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 22)
# Name GO ID Score Top Affiliating Genes
1 skeletal muscle tissue regeneration GO:0043403 9.61 SGCA DYSF
2 cardiac muscle contraction GO:0060048 9.61 TTN TCAP SGCD
3 plasma membrane organization GO:0007009 9.6 DYSF CAV3
4 cardiac muscle tissue development GO:0048738 9.59 SGCG SGCD
5 positive regulation of proteolysis GO:0045862 9.58 TRIM32 CAPN3
6 protein O-linked mannosylation GO:0035269 9.58 POMT1 FKRP
7 sarcomere organization GO:0045214 9.58 TTN TCAP CAPN3
8 heart contraction GO:0060047 9.57 SGCG SGCD
9 cardiac muscle tissue morphogenesis GO:0055008 9.56 TTN TCAP
10 cardiac myofibril assembly GO:0055003 9.55 TTN TCAP
11 plasma membrane repair GO:0001778 9.54 DYSF CAV3
12 cardiac muscle hypertrophy GO:0003300 9.52 TTN TCAP
13 regulation of calcium ion import GO:0090279 9.51 DYSF CAV3
14 muscle cell cellular homeostasis GO:0046716 9.5 TRIM32 CAV3 CAPN3
15 T-tubule organization GO:0033292 9.49 DYSF CAV3
16 skeletal muscle thin filament assembly GO:0030240 9.48 TTN TCAP
17 skeletal muscle myosin thick filament assembly GO:0030241 9.46 TTN TCAP
18 cardiac muscle fiber development GO:0048739 9.43 TTN TCAP SGCD
19 muscle contraction GO:0006936 9.43 TTN SGCA MYOT DYSF CAV3 ANKRD2
20 sarcomerogenesis GO:0048769 9.37 TTN TCAP
21 detection of muscle stretch GO:0035995 9.33 TTN TCAP CAV3
22 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 titin binding GO:0031432 9.13 TCAP CAPN3 ANKRD2
2 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
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44 MESH via Orphanet
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48 NCI
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50 NDF-RT
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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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