MCID: LMB023
MIFTS: 24

Limb-Girdle Muscular Dystrophy, Type 2g malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Limb-Girdle Muscular Dystrophy, Type 2g

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Sources:
47OMIM, 33MalaCards
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MalaCards: Limb-Girdle Muscular Dystrophy, Type 2g, also known as muscular dystrophy, limb-girdle, type 2g, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy, Type 2g is TCAP (titin-cap).

Description from OMIM:47 601954

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

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Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 20GeneTests, 22GTR, 47OMIM, 62UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

49
lgmd2g:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy, type 2g 43
muscular dystrophy, limb-girdle, type 2g 43 20 22 47 62
lgmd2g 43 45 49
limb-girdle muscular dystrophy due to telethonin deficiency 49
autosomal recessive limb-girdle muscular dystrophy type 2g 49


External Ids:

OMIM47 601954
ICD10 via Orphanet26 G71.0

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

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17GeneCards, 18GeneDecks
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Symptoms for Limb-Girdle Muscular Dystrophy, Type 2g

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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

601954

Clinical features from OMIM:

601954

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

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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

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

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

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20GeneTests, 22GTR
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Genetic tests related to Limb-Girdle Muscular Dystrophy, Type 2g:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy Type 2g20 TCAP
2 Limb-Girdle Muscular Dystrophy, Type 2g22

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

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

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Publications for Limb-Girdle Muscular Dystrophy, Type 2g

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52PubMed
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Articles related to Limb-Girdle Muscular Dystrophy, Type 2g:

idTitleAuthorsYear
1
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. (10655062)
2000

Variations for Limb-Girdle Muscular Dystrophy, Type 2g

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Limb-Girdle Muscular Dystrophy, Type 2g:

1
id Gene Name Type Significance SNP ID Assembly Location
1TCAPNM_003673.3(TCAP): c.157C> T (p.Gln53Ter)single nucleotide variantLikely pathogenic, Pathogenicrs104894655GRCh37Chr 17, 37822015: 37822015
2TCAPTCAP, 2-BP DEL, 637GGdeletionPathogenic

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

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2g

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

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limb-Girdle Muscular Dystrophy, Type 2g

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet