MCID: LMB023
MIFTS: 18

Limb-Girdle Muscular Dystrophy, Type 2g malady

Neuronal diseases, Muscle diseases categories

Summaries for Limb-Girdle Muscular Dystrophy, Type 2g

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Sources:
46OMIM, 32MalaCards
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MalaCards: Limb-Girdle Muscular Dystrophy, Type 2g, is also known as muscular dystrophy, limb-girdle, type 2g An important gene associated with Limb-Girdle Muscular Dystrophy, Type 2g is TCAP (titin-cap).

Description from OMIM:46 601954

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

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 20GeneTests, 22GTR, 46OMIM, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
lgmd2g:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy, type 2g 42
muscular dystrophy, limb-girdle, type 2g 42 20 22 46 60
lgmd2g 42 44 48
limb girdle muscular dystrophy due to telethonin deficiency 48
autosomal recessive limb-girdle muscular dystrophy type 2g 48


External Ids:

OMIM46 601954
ICD10 via Orphanet26 G71.0

Clinical Features for Limb-Girdle Muscular Dystrophy, Type 2g

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46OMIM
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Clinical features from OMIM:

601954

Clinical synopsis from OMIM:

601954

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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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

Drug clinical trials:

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

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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Sources:
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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Genetic Variations for Limb-Girdle Muscular Dystrophy, Type 2g

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

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Sources:
1BioGPS, 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet