MCID: MSC122
MIFTS: 37

Muscular Dystrophy, Limb-Girdle, Type 2g

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

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

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 2g:

Name: Muscular Dystrophy, Limb-Girdle, Type 2g 54 12 50 13 69
Lgmd2g 12 50 24 56 71 52
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 12 56 14
Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency 12 56
Limb-Girdle Muscular Dystrophy, Type 2g 50 29
Limb-Girdle Muscular Dystrophy Type 2g 24
Limb-Girdle Muscular Dystrophy 2g 71
Telethoninopathy 24
Lgmd 2g 24

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive limb-girdle muscular dystrophy type 2g
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
mean age at onset 12.5 years (range 2 to 15 years)
genetic heterogeneity, see lgmd2a
allelic disorder to dilated cardiomyopathy 1n (cmd1n, )


HPO:

32
muscular dystrophy, limb-girdle, type 2g:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 601954
Disease Ontology 12 DOID:0110281
ICD10 33 G71.0
Orphanet 56 ORPHA34514
UMLS via Orphanet 70 C1866008
ICD10 via Orphanet 34 G71.0
MedGen 40 C1866008
MeSH 42 D049288

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

UniProtKB/Swiss-Prot : 71 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 multiple endocrine neoplasia and miyoshi muscular dystrophy 1, and has symptoms including muscular dystrophy, difficulty climbing stairs and increased connective tissue. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2g is TCAP (Titin-Cap). Related phenotype is muscle.

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding telethonin (TCAP).

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on limb-girdle muscular dystrophy.

Description from OMIM: 601954

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

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2y
Muscular Dystrophy, Limb-Girdle, Type 2b Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type Ic Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2z Muscular Dystrophy, Limb-Girdle, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 2x 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
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z

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

(show all 31)
id Related Disease Score Top Affiliating Genes
1 multiple endocrine neoplasia 10.1 CAPN3 FKRP
2 miyoshi muscular dystrophy 1 10.1 CAPN3 DYSF
3 pulmonary hypertension, primary, 2 10.1 CAPN3 DYSF
4 efemp2-related cutis laxa 10.1 CAPN3 DYSF
5 miyoshi muscular dystrophy 3 10.0 DYSF FKRP
6 creatine phosphokinase, elevated serum 10.0 DYSF FKRP
7 ullrich congenital muscular dystrophy 1 9.9 CAPN3 DYSF
8 craniofrontonasal dysplasia 9.9 DYSF FKRP
9 adult intracranial malignant hemangiopericytoma 9.9 CAPN3 DYSF
10 schizophrenia 16 9.8 FKRP MYOT
11 autosomal recessive limb-girdle muscular dystrophy 9.8
12 muscular dystrophy 9.8
13 limb-girdle muscular dystrophy 9.8
14 muscular dystrophy, congenital 9.8 CAPN3 FKRP
15 acetyl-coa carboxylase deficiency 9.6 CAPN3 DYSF FKRP
16 salih myopathy 9.6 CAPN3 FKRP MYOT
17 lyme disease 9.5 CAPN3 DYSF MYOT
18 hypertrophic cardiomyopathy 21 9.3 CAPN3 DYSF TRIM32
19 eosinophilic variant of chromophobe renal cell carcinoma 9.0 CAPN3 DYSF FKRP MYOT
20 casr-related disorders 9.0 FKRP MYOT TCAP
21 myopathy, myofibrillar, 3 8.7 CAPN3 FKRP MYOT TRIM32
22 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 8.5 CAPN3 DYSF FKRP TCAP TRIM32
23 charcot-marie-tooth disease, type 2b2 8.5 CAPN3 DYSF FKRP TCAP TRIM32
24 autosomal recessive limb-girdle muscular dystrophy type 2h 8.5 CAPN3 DYSF FKRP TCAP TRIM32
25 autosomal recessive limb-girdle muscular dystrophy type 2e 8.5 CAPN3 DYSF FKRP TCAP TRIM32
26 mct8-specific thyroid hormone cell-membrane transporter deficiency 8.4 CAPN3 DYSF MYOT TCAP TRIM32
27 cardiomyopathy, hypertrophic, 25 7.9 CAPN3 DYSF FKRP MYOT TCAP TRIM32
28 autosomal recessive limb-girdle muscular dystrophy type 2f 7.9 CAPN3 DYSF FKRP MYOT TCAP TRIM32
29 peeling skin syndrome 2 7.9 CAPN3 DYSF FKRP MYOT TCAP TRIM32
30 periodontosis 7.8 CAPN3 DYSF FKRP MYOT TCAP TRIM32
31 clear cell sarcoma 7.8 CAPN3 DYSF FKRP MYOT TCAP TRIM32

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 2g:



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2g

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

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
increased serum creatine kinase
creatine kinase levels may normalize with disease progression

Cardiovascular- Heart:
cardiac muscle is involved in a subset of patients

Muscle Soft Tissue:
difficulty climbing stairs
muscle biopsy shows dystrophic changes
foot drop
increased connective tissue
areflexia in lower limbs
more

Clinical features from OMIM:

601954

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

32 (show all 16)
id Description HPO Frequency HPO Source Accession
1 muscular dystrophy 32 HP:0003560
2 difficulty climbing stairs 32 HP:0003551
3 increased connective tissue 32 HP:0009025
4 difficulty running 32 HP:0009046
5 rimmed vacuoles 32 HP:0003805
6 difficulty walking 32 HP:0002355
7 distal lower limb muscle weakness 32 HP:0009053
8 areflexia of lower limbs 32 HP:0002522
9 calf muscle hypertrophy 32 HP:0008981
10 proximal muscle weakness in lower limbs 32 HP:0008994
11 proximal muscle weakness in upper limbs 32 HP:0008997
12 elevated serum creatine phosphokinase 32 HP:0003236
13 increased variability in muscle fiber diameter 32 HP:0003557
14 proximal upper limb amyotrophy 32 HP:0008948
15 distal lower limb amyotrophy 32 HP:0008944
16 foot dorsiflexor weakness 32 HP:0009027

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2g:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CAPN3 DYSF FKRP TCAP TRIM32

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402

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

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

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2g 29
2 Limb-Girdle Muscular Dystrophy Type 2g 24 TCAP

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

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

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

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TCAP NM_003673.3(TCAP): c.157C> T (p.Gln53Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894655 GRCh37 Chromosome 17, 37822015: 37822015
2 TCAP NM_003673.3(TCAP): c.109_110delGG (p.Gly37Leufs) deletion Pathogenic rs786205076 GRCh37 Chromosome 17, 37821721: 37821722
3 TCAP NM_003673.3(TCAP): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic rs45495192 GRCh37 Chromosome 17, 37821644: 37821644
4 TCAP NM_003673.3(TCAP): c.24_25insGAGGTGT (p.Ser11Terfs) insertion Likely pathogenic rs863224933 GRCh37 Chromosome 17, 37821636: 37821637
5 TCAP NM_003673.3(TCAP): c.103G> T (p.Glu35Ter) single nucleotide variant Pathogenic rs779699520 GRCh37 Chromosome 17, 37821715: 37821715
6 TCAP NM_003673.3(TCAP): c.43_49dupTGTGAGC (p.Arg17Leufs) duplication Likely pathogenic rs886044421 GRCh37 Chromosome 17, 37821655: 37821661

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

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

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

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

Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 2g according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 9.16 CAPN3 DYSF
2 Z disc GO:0030018 9.13 CAPN3 MYOT TCAP
3 sarcolemma GO:0042383 8.8 DYSF FKRP MYOT

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 2g according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.37 CAPN3 TRIM32
2 protein complex assembly GO:0006461 9.32 CAPN3 TCAP
3 muscle contraction GO:0006936 9.26 DYSF MYOT
4 sarcomere organization GO:0045214 9.16 CAPN3 TCAP
5 muscle cell cellular homeostasis GO:0046716 8.96 CAPN3 TRIM32
6 positive regulation of proteolysis GO:0045862 8.62 CAPN3 TRIM32

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Type 2g according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 titin binding GO:0031432 8.96 CAPN3 TCAP
2 structural constituent of muscle GO:0008307 8.8 CAPN3 MYOT TCAP

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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