MCID: MSC122
MIFTS: 40

Muscular Dystrophy, Limb-Girdle, Type 2g malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases categories

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

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Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 2g:

Name: Muscular Dystrophy, Limb-Girdle, Type 2g 49 11 45 65
Lgmd2g 45 22 47 67
Limb-Girdle Muscular Dystrophy, Type 2g 45 22 24
 
Limb-Girdle Muscular Dystrophy 2g 67
Telethoninopathy 22
Lgmd 2g 22


Classifications:



External Ids:

OMIM49 601954
MedGen34 C1866008
MeSH36 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2g

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UniProtKB/Swiss-Prot:67 Limb-girdle muscular dystrophy 2G: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients.

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2g, also known as lgmd2g, is related to muscular dystrophy and autosomal recessive limb-girdle muscular dystrophy type 2g, and has symptoms including autosomal recessive inheritance, difficulty walking and areflexia of lower limbs. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2g is TCAP (Titin-Cap), and among its related pathways is Striated Muscle Contraction. Related mouse phenotypes are no phenotypic analysis and normal.

Description from OMIM:49 601954

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 2g

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Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type Ic Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2e Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 1e
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 2c
Muscular Dystrophy, Limb-Girdle, Type 2a muscular dystrophy, limb-girdle, type 2g
Muscular Dystrophy, Limb-Girdle, Type 2d Limb-Girdle Muscular Dystrophy Type 1d
Limb-Girdle Muscular Dystrophies, Autosomal Dominant Limb-Girdle Muscular Dystrophies, Autosomal Recessive
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

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

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy29.5CAPN3, DMD, DYSF, FKRP, MYOT, TCAP
2autosomal recessive limb-girdle muscular dystrophy type 2g10.8
3limb-girdle muscular dystrophy10.7
4lockwood feingold syndrome10.1DMD, DYSF
5miyoshi muscular dystrophy 110.1CAPN3, DYSF
6dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease10.1CAPN3, DYSF
7muscular dystrophy, limb-girdle, type 2a10.1
8stormorken syndrome10.1DMD, DYSF
9sarcoidosis, susceptibility 210.1DMD, DYSF
10muscular dystrophy, limb-girdle, type ic10.1DYSF, FKRP
11isolated pierre robin sequence10.0CAPN3, FKRP
12congenital fibrosis of the extraocular muscles10.0DMD, DYSF
13myopathy with deficiency of iscu10.0DMD, MYOT
14facioscapulohumeral muscular dystrophy 110.0CAPN3, DMD
15minicore myopathy with external ophthalmoplegia10.0DMD, MYOT
16col12a1-related muscle diseases9.9DMD, FKRP
17rippling muscle disease9.9DYSF, TTN
18reductional transverse limb defects9.9DMD, TTN
19bethlem myopathy 19.9CAPN3, DMD
20immunodeficiency 34, mycobacteriosis, x-linked9.9DMD, DYSF, FKRP
21muscular dystrophy, congenital9.8CAPN3, DMD, FKRP
22lethal congenital contracture syndrome 59.8DMD, TTN
23septate vagina9.8DMD, TCAP, TTN
24invasive bladder transitional cell carcinoma9.8DMD, TCAP, TTN
25muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus9.8DMD, FKRP
26myotonic disease9.6CAPN3, DMD, DYSF, TTN
27drug-induced hepatitis9.5DMD, FKRP, TCAP, TTN
28acute pericementitis9.4CAPN3, DMD, DYSF, MYOT, TTN
29cardiomyopathy with or without skeletal myopathy9.4DMD, FKRP, MYOT, TCAP, TTN
30cornelia de lange syndrome9.3CAPN3, DYSF, MYOT, TCAP, TRIM32, TTN
31muscular dystrophy, limb-girdle, type 2e9.3CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
32muscular dystrophy, limb-girdle, type 2h9.3CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
33glycogen storage disease 0, muscle9.3CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
34lmna-related muscle diseases9.2CAPN3, DMD, DYSF, FKRP, TCAP, TTN
35myopathy of extraocular muscle9.2CAPN3, DYSF, FKRP, MYOT, TCAP, TTN
36muscular dystrophy, limb-girdle, type 1a9.1CAPN3, DYSF, FKRP, MYOT, TCAP, TRIM32
37muscular dystrophy, limb-girdle, type 2f9.1CAPN3, DMD, DYSF, FKRP, TCAP, TRIM32
38muscular dystrophy, limb-girdle, type 2b8.9CAPN3, DMD, DYSF, FKRP, MYOT, TCAP
39cardiomyopathy, hypertrophic, 258.9CAPN3, DMD, DYSF, FKRP, MYOT, TCAP
40cartilage disease8.9CAPN3, DMD, DYSF, FKRP, MYOT, TCAP
41myeloid leukemia8.9CAPN3, DMD, DYSF, FKRP, MYOT, TCAP

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



Diseases related to muscular dystrophy, limb-girdle, type 2g

Symptoms for Muscular Dystrophy, Limb-Girdle, Type 2g

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Symptoms by clinical synopsis from OMIM:

601954

Clinical features from OMIM:

601954

HPO human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2g:

(show all 16)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 difficulty walking HP:0002355
3 areflexia of lower limbs HP:0002522
4 elevated serum creatine phosphokinase HP:0003236
5 difficulty climbing stairs HP:0003551
6 increased variability in muscle fiber diameter HP:0003557
7 muscular dystrophy HP:0003560
8 rimmed vacuoles HP:0003805
9 distal lower limb amyotrophy HP:0008944
10 proximal upper limb amyotrophy HP:0008948
11 calf muscle hypertrophy HP:0008981
12 proximal muscle weakness in upper limbs HP:0008997
13 increased connective tissue HP:0009025
14 foot dorsiflexor weakness HP:0009027
15 difficulty running HP:0009046
16 distal lower limb muscle weakness HP:0009053

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

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 2g

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2g

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2g22 TCAP
2 Limb-Girdle Muscular Dystrophy, Type 2g24

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2g

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Animal Models for Muscular Dystrophy, Limb-Girdle, Type 2g or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.8CAPN3, DMD, DYSF, MYOT
2MP:00028737.8CAPN3, DMD, FKRP, MYOT, TTN
3MP:00053867.1DMD, DYSF, FKRP, TCAP, TRIM32, TTN
4MP:00053697.0CAPN3, DMD, DYSF, FKRP, TCAP, TRIM32
5MP:00053766.9CAPN3, DMD, DYSF, FKRP, TCAP, TRIM32

Publications for Muscular Dystrophy, Limb-Girdle, Type 2g

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Variations for Muscular Dystrophy, Limb-Girdle, Type 2g

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Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2g:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TCAPNM_003673.3(TCAP): c.32C> A (p.Ser11Ter)single nucleotide variantLikely pathogenicrs45495192GRCh37Chr 17, 37821644: 37821644
2TCAPNM_003673.3(TCAP): c.24_25insGAGGTGT (p.Ser11Terfs)insertionLikely pathogenicGRCh37Chr 17, 37821636: 37821637
3TCAPNM_003673.3(TCAP): c.157C> T (p.Gln53Ter)single nucleotide variantLikely pathogenic, Pathogenicrs104894655GRCh37Chr 17, 37822015: 37822015
4TCAPNM_003673.3(TCAP): c.109_110delGG (p.Gly37Leufs)deletionPathogenicrs786205076GRCh37Chr 17, 37821721: 37821722

Expression for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2g

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

Pathways for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2g

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.4DMD, DYSF, TCAP, TTN

GO Terms for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2g

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

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:00303159.9CAPN3, DYSF
2I bandGO:00316749.3TCAP, TTN
3dystrophin-associated glycoprotein complexGO:00160109.2DMD, FKRP
4sarcolemmaGO:00423838.4DMD, DYSF, FKRP, MYOT
5Z discGO:00300187.5CAPN3, DMD, MYOT, TCAP, TTN

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of proteolysisGO:00458629.9CAPN3, TRIM32
2cardiac muscle hypertrophyGO:00033009.7TCAP, TTN
3skeletal muscle thin filament assemblyGO:00302409.7TCAP, TTN
4skeletal muscle myosin thick filament assemblyGO:00302419.7TCAP, TTN
5detection of muscle stretchGO:00359959.7TCAP, TTN
6cardiac muscle fiber developmentGO:00487399.7TCAP, TTN
7sarcomerogenesisGO:00487699.7TCAP, TTN
8cardiac myofibril assemblyGO:00550039.7TCAP, TTN
9cardiac muscle tissue morphogenesisGO:00550089.7TCAP, TTN
10response to muscle stretchGO:00359949.6DMD, TCAP
11adult heart developmentGO:00075129.6TCAP, TTN
12response to calcium ionGO:00515929.5CAPN3, TTN
13positive regulation of neuron differentiationGO:00456669.5DMD, TRIM32
14regulation of catalytic activityGO:00507909.3CAPN3, TTN
15muscle cell cellular homeostasisGO:00467169.2CAPN3, DMD
16sarcomere organizationGO:00452149.1CAPN3, TCAP, TTN
17muscle filament slidingGO:00300498.9DMD, TCAP, TTN
18cardiac muscle contractionGO:00600488.8DMD, TCAP, TTN

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Type 2g according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1titin bindingGO:00314329.8CAPN3, TCAP
2myosin bindingGO:00170229.6DMD, TRIM32
3protein self-associationGO:00436219.2TRIM32, TTN
4structural constituent of muscleGO:00083077.5CAPN3, DMD, MYOT, TCAP, TTN

Sources for Muscular Dystrophy, Limb-Girdle, Type 2g

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet