MCID: LMB023
MIFTS: 26

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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MalaCards based summary: 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, and has symptoms including 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, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Limb-Girdle Muscular Dystrophy, Type 2g, Aliases & Descriptions:

Name: Limb-Girdle Muscular Dystrophy, Type 2g 42
Muscular Dystrophy, Limb-Girdle, Type 2g 42 20 22 46 62
Lgmd2g 42 44 48
 
Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency 48
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 601954
ICD10 via Orphanet26 G71.0

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

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Symptoms for Limb-Girdle Muscular Dystrophy, Type 2g

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Symptoms by clinical synopsis from OMIM:

601954

Clinical features from OMIM:

601954

HPO human phenotypes related to Limb-Girdle Muscular Dystrophy, Type 2g:

(show all 17)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 difficulty walking HP:0002355
3 areflexia of lower limbs HP:0002522
4 elevated serum creatine phosphokinase HP:0003236
5 difficulty climbing stairs HP:0003551
6 increased variability in muscle fiber diameter HP:0003557
7 muscular dystrophy HP:0003560
8 rimmed vacuoles HP:0003805
9 distal lower limb amyotrophy HP:0008944
10 proximal upper limb amyotrophy HP:0008948
11 calf muscle hypertrophy HP:0008981
12 proximal muscle weakness in lower limbs HP:0008994
13 proximal muscle weakness in upper limbs HP:0008997
14 increased connective tissue HP:0009025
15 foot dorsiflexor weakness HP:0009027
16 difficulty running HP:0009046
17 distal lower limb muscle weakness HP:0009053

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

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

idTitleAuthorsYear
1
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern. (25298746)
2014
2
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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Clinvar genetic disease variations for Limb-Girdle Muscular Dystrophy, Type 2g:

6
id Gene Name Type Significance SNP ID Assembly Location
1TCAPNM_003673.3(TCAP): c.32C> A (p.Ser11Ter)single nucleotide variantLikely pathogenicGRCh37Chr 17, 37821644: 37821644
2TCAPNM_003673.3(TCAP): c.157C> T (p.Gln53Ter)single nucleotide variantLikely pathogenicrs104894655GRCh37Chr 17, 37822015: 37822015
3TCAPTCAP, 2-BP DEL, 637GGdeletionPathogenic

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

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet