MCID: MSC122
MIFTS: 26

Muscular Dystrophy, Limb-Girdle, Type 2g malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2g 50 46 12 66
Lgmd2g 46 23 52 68 48
Limb-Girdle Muscular Dystrophy 2g 68 25
Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency 52
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 52
 
Limb-Girdle Muscular Dystrophy, Type 2g 46
Limb-Girdle Muscular Dystrophy Type 2g 23
Telethoninopathy 23
Lgmd 2g 23

Characteristics:

Orphanet epidemiological data:

52
lgmd2g:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy

HPO:

62
muscular dystrophy, limb-girdle, type 2g:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 601954
Orphanet52 ORPHA34514
ICD10 via Orphanet29 G71.0
MedGen35 C1866008
MeSH37 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type 2g

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UniProtKB/Swiss-Prot:68 Limb-girdle muscular dystrophy 2G: An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients.

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2g, also known as lgmd2g, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including difficulty walking, areflexia of lower limbs and elevated serum creatine phosphokinase. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2g is TCAP (Titin-Cap).

Description from OMIM:50 601954

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

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Symptoms for Muscular Dystrophy, Limb-Girdle, Type 2g

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Symptoms by clinical synopsis from OMIM:

601954

Clinical features from OMIM:

601954

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

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

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2g25
2 Limb-Girdle Muscular Dystrophy Type 2g23 TCAP

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

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

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Publications for Muscular Dystrophy, Limb-Girdle, Type 2g

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

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Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2g:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TCAPNM_003673.3(TCAP): c.32C> A (p.Ser11Ter)single nucleotide variantLikely pathogenicrs45495192GRCh37Chr 17, 37821644: 37821644
2TCAPNM_003673.3(TCAP): c.24_25insGAGGTGT (p.Ser11Terfs)insertionLikely pathogenicrs863224933GRCh37Chr 17, 37821636: 37821637
3TCAPNM_003673.3(TCAP): c.157C> T (p.Gln53Ter)single nucleotide variantLikely pathogenic, Pathogenicrs104894655GRCh37Chr 17, 37822015: 37822015
4TCAPNM_003673.3(TCAP): c.109_110delGG (p.Gly37Leufs)deletionPathogenicrs786205076GRCh37Chr 17, 37821721: 37821722

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

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

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

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

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Sources for Muscular Dystrophy, Limb-Girdle, Type 2g

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet