MCID: LMB023
MIFTS: 14

Limb-Girdle Muscular Dystrophy, Type 2g malady

Neuronal, Muscle categories

Summaries for Limb-Girdle Muscular Dystrophy, Type 2g

Sources:
47OMIM, 33MalaCards
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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:47 601954

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

Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 20GeneTests, 22GTR, 47OMIM, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


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 61
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

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

Sources:
47OMIM
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Clinical features from OMIM:

601954

Clinical synopsis from OMIM:

601954

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Limb-Girdle Muscular Dystrophy, Type 2g

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

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

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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limb-Girdle Muscular Dystrophy, Type 2g

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet