MCID: MSC122
MIFTS: 24

Muscular Dystrophy, Limb-Girdle, Type 2g malady

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

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

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 61UMLS, 20GeneTests, 22GTR, 48Orphanet, 44Novoseek, 26ICD10 via Orphanet
See all sources

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2g 46 9 42 61
Limb-Girdle Muscular Dystrophy, Type 2g 42 20 22
Lgmd2g 42 44 48
 
Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency 42 48
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 42 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 601954
Orphanet48 34514
ICD10 via Orphanet26 G71.0

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

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MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2g, also known as limb-girdle muscular dystrophy, type 2g, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including autosomal recessive inheritance, difficulty walking and areflexia of lower limbs. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2g is TCAP (titin-cap).

Description from OMIM:46 601954

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

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Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 1h Muscular Dystrophy, Limb-Girdle, Type 2e
Limb-Girdle Muscular Dystrophy, Type 1g Muscular Dystrophy, Limb-Girdle, Type 1a
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 2q
Muscular Dystrophy, Limb-Girdle, Type 2h Muscular Dystrophy, Limb-Girdle, Type 2l
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2a
muscular dystrophy, limb-girdle, type 2g Muscular Dystrophy, Limb-Girdle, Type 2d
Muscular Dystrophy, Limb-Girdle, Type Ic Limb-Girdle Muscular Dystrophies, Autosomal Dominant
Limb-Girdle Muscular Dystrophy Type 1d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2g via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy10.7
2muscular dystrophy10.7
3muscular dystrophy, limb-girdle, type 2a10.1

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 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 Muscular Dystrophy, Limb-Girdle, Type 2g

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Drug clinical trials:

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

Search 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 2g20 TCAP
2 Limb-Girdle Muscular Dystrophy, Type 2g22

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 pathogenicGRCh37Chr 17, 37821644: 37821644
2TCAPNM_003673.3(TCAP): c.157C> T (p.Gln53Ter)single nucleotide variantLikely pathogenic, Pathogenicrs104894655GRCh37Chr 17, 37822015: 37822015
3TCAPTCAP, 2-BP DEL, 637GGdeletionPathogenic

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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet