MCID: MSC122
MIFTS: 25

Muscular Dystrophy, Limb-Girdle, Type 2g malady

Categories: Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases, Metabolic diseases

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 2g 67 24
Limb-Girdle Muscular Dystrophy, Type 2g 45
 
Limb-Girdle Muscular Dystrophy Type 2g 22
Telethoninopathy 22
Lgmd 2g 22

Characteristics:

HPO:

61
muscular dystrophy, limb-girdle, type 2g:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 601954
MedGen34 C1866008
MeSH36 D049288
UMLS65 C1866008

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 autosomal recessive limb-girdle muscular dystrophy type 2g and dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease, and has symptoms including distal lower limb muscle weakness, difficulty running and foot dorsiflexor weakness. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2g is TCAP (Titin-Cap), and among its related pathways are Striated Muscle Contraction and Cardiac conduction. 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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
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 38)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive limb-girdle muscular dystrophy type 2g11.8
2dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease10.2CAPN3, DYSF
3miyoshi muscular dystrophy 110.2CAPN3, DYSF
4muscular dystrophy, limb-girdle, type ic10.1DYSF, FKRP
5juvenile batten disease10.1CAPN3, FKRP
6myopathy, distal, 410.1DMD, MYOT
7cataract 16, multiple types10.1DMD, MYOT
8fletcher factor deficiency10.1CAPN3, DMD
9bethlem myopathy 110.0CAPN3, DMD
10progressive non-fluent aphasia10.0DMD, FKRP
11muscular dystrophy, congenital9.9DMD, FKRP
12muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus9.9DMD, FKRP
13autoimmune thyroid disease 29.9MYOT, TTN
14myopathy, spheroid body9.8MYOT, TTN
15lennox-gastaut syndrome9.8DMD, FKRP
16cardiomyopathy, familial hypertrophic9.8TCAP, TTN
17specific developmental disorder9.8DMD, TTN
18immunodeficiency 34, mycobacteriosis, x-linked9.8DMD, DYSF, FKRP
19myopathy with deficiency of iscu9.7MYOT, TCAP, TTN
20transverse vaginal septum9.7DMD, TCAP, TTN
21lethal congenital contracture syndrome 59.6DMD, TTN
22histiocytoma9.6DYSF, MYOT, TTN
23dermatosis papulosa nigra9.6DMD, MYOT, TTN
24immature teratoma of ovary9.6CAPN3, TTN
25cornelia de lange syndrome9.4CAPN3, DYSF, MYOT, TCAP, TRIM32
26kummell's disease9.2CAPN3, DMD, DYSF, FKRP, MYOT
27limb-girdle muscular dystrophy9.1CAPN3, DMD, DYSF, MYOT, TTN
28cardiomyopathy with or without skeletal myopathy9.0DMD, FKRP, MYOT, TCAP, TTN
29mast cell disease8.9CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
30bardet-biedl syndrome 118.9CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
31glycogen storage disease 0, muscle8.9CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
32lmna-related muscle diseases8.8CAPN3, DMD, DYSF, FKRP, TCAP, TTN
33myopathy, myofibrillar, 38.6CAPN3, DYSF, FKRP, MYOT, TCAP, TRIM32
34cardiomyopathy, dilated, 1l8.6CAPN3, DMD, DYSF, FKRP, TCAP, TRIM32
35muscular dystrophy, limb-girdle, type 2b8.2CAPN3, DMD, DYSF, FKRP, MYOT, TCAP
36cardiomyopathy, hypertrophic, 258.2CAPN3, DMD, DYSF, FKRP, MYOT, TCAP
37cartilage disease8.2CAPN3, DMD, DYSF, FKRP, MYOT, TCAP
38alternating esotropia8.2CAPN3, 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 15)
id Description Frequency HPO Source Accession
1 distal lower limb muscle weakness HP:0009053
2 difficulty running HP:0009046
3 foot dorsiflexor weakness HP:0009027
4 increased connective tissue HP:0009025
5 proximal muscle weakness in upper limbs HP:0008997
6 calf muscle hypertrophy HP:0008981
7 proximal upper limb amyotrophy HP:0008948
8 distal lower limb amyotrophy HP:0008944
9 rimmed vacuoles HP:0003805
10 muscular dystrophy HP:0003560
11 increased variability in muscle fiber diameter HP:0003557
12 difficulty climbing stairs HP:0003551
13 elevated serum creatine phosphokinase HP:0003236
14 areflexia of lower limbs HP:0002522
15 difficulty walking HP:0002355

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

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:00030128.6CAPN3, DMD, DYSF, MYOT
2MP:00028737.7CAPN3, DMD, FKRP, MYOT, TTN
3MP:00053867.4DMD, DYSF, FKRP, TCAP, TRIM32, TTN
4MP:00053696.9CAPN3, DMD, DYSF, FKRP, TCAP, TRIM32
5MP:00053766.6CAPN3, 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 pathogenicrs863224933GRCh37Chr 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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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
1dystrophin-associated glycoprotein complexGO:00160109.6DMD, FKRP
2T-tubuleGO:00303159.3CAPN3, DYSF
3sarcolemmaGO:00423838.9DYSF, FKRP, MYOT

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of neuron differentiationGO:00456669.8DMD, TRIM32
2cardiac myofibril assemblyGO:00550039.7TCAP, TTN
3positive regulation of NF-kappaB transcription factor activityGO:00510929.6CAPN3, TRIM32
4sarcomerogenesisGO:00487699.6TCAP, TTN
5muscle filament slidingGO:00300499.5TCAP, TTN
6muscle organ developmentGO:00075179.4CAPN3, DMD
7sarcomere organizationGO:00452149.3CAPN3, TTN
8cardiac muscle contractionGO:00600488.9DMD, TCAP, TTN

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

idNameGO IDScoreTop Affiliating Genes
1protein self-associationGO:00436219.3TRIM32, 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