MCID: LMB023
MIFTS: 24

Limb-Girdle Muscular Dystrophy, Type 2g malady

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

Summaries for Limb-Girdle Muscular Dystrophy, Type 2g

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48OMIM, 34MalaCards
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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:48 601954

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

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Sources:
44NIH Rare Diseases, 46Novoseek, 50Orphanet, 21GeneTests, 23GTR, 48OMIM, 63UMLS, 27ICD10 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):

50
lgmd2g:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy, type 2g 44
muscular dystrophy, limb-girdle, type 2g 44 21 23 48 63
lgmd2g 44 46 50
limb-girdle muscular dystrophy due to telethonin deficiency 50
autosomal recessive limb-girdle muscular dystrophy type 2g 50


External Ids:

OMIM48 601954
ICD10 via Orphanet27 G71.0

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

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Sources:
18GeneCards, 19GeneDecks
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Symptoms for Limb-Girdle Muscular Dystrophy, Type 2g

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48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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

Drug clinical trials:

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

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

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

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21GeneTests, 23GTR
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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 2g21 TCAP
2 Limb-Girdle Muscular Dystrophy, Type 2g23

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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53PubMed
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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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet