LGMD2G
MCID: MSC122
MIFTS: 36

Muscular Dystrophy, Limb-Girdle, Type 2g (LGMD2G) malady

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2g 54 12 50 13 69
Lgmd2g 12 50 24 56 66 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 2g 66 29
Limb-Girdle Muscular Dystrophy, Type 2g 50
Limb-Girdle Muscular Dystrophy Type 2g 24
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;

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
ICD10 via Orphanet 34 G71.0
MedGen 40 C1866008
MeSH 42 D049288

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

UniProtKB/Swiss-Prot : 66 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 muscular dystrophy, limb-girdle, type 2a and sporadic hemiplegic migraine, and has symptoms including elevated serum creatine phosphokinase, areflexia of lower limbs and difficulty walking. 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).

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 2b
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 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 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 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Limb-Girdle Muscular Dystrophy 2z

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

(show all 34)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2a 10.9
2 sporadic hemiplegic migraine 10.1 CAPN3 FKRP
3 cerebral hemorrhage 10.1 CAPN3 DYSF
4 rippling muscle disease 10.1 DYSF FKRP
5 pancreatic agenesis 1 10.0 CAPN3 DYSF
6 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.0 DYSF FKRP
7 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 10.0 CAPN3 DYSF
8 deafness, autosomal recessive 18b 10.0 DYSF FKRP
9 ehlers-danlos syndrome, kyphoscoliotic form 10.0 CAPN3 DYSF
10 vulvar eccrine adenocarcinoma 10.0 CAPN3 DYSF
11 short-rib thoracic dysplasia 8 with or without polydactyly 10.0 FKRP MYOT
12 inflammatory bowel disease 14 9.9 DYSF MYOT
13 thrombocytopenia, x-linked 9.9 DYSF FKRP
14 asthma-related traits 6 9.9 CAPN3 DYSF FKRP
15 autosomal recessive limb-girdle muscular dystrophy type 2x 9.9 CAPN3 DYSF FKRP
16 ullrich congenital muscular dystrophy 1 9.9 CAPN3 DYSF
17 myopathy, early-onset, with fatal cardiomyopathy 9.9 CAPN3 FKRP MYOT
18 lyme disease 9.8 CAPN3 DYSF MYOT
19 autosomal recessive limb-girdle muscular dystrophy 9.8
20 muscular dystrophy 9.8
21 limb-girdle muscular dystrophy 9.8
22 cerebral angioma 9.7 CAPN3 DYSF FKRP MYOT
23 myopathy, spheroid body 9.5 CAPN3 FKRP MYOT TRIM32
24 congenital heart defects, multiple types, 3 9.4 CAPN3 DYSF FKRP TCAP TRIM32
25 autosomal dominant limb-girdle muscular dystrophy type 1c 9.4 CAPN3 DYSF FKRP TCAP TRIM32
26 charcot-marie-tooth disease, type 2b2 9.4 CAPN3 DYSF FKRP TCAP TRIM32
27 hypereosinophilic syndrome, idiopathic, resistant to imatinib 9.4 CAPN3 DYSF FKRP TCAP TRIM32
28 autosomal recessive limb-girdle muscular dystrophy type 2h 9.4 CAPN3 DYSF FKRP TCAP TRIM32
29 malignant hyperthermia susceptibility 9.4 CAPN3 DYSF MYOT TCAP TRIM32
30 myopathy, distal, with anterior tibial onset 9.2 CAPN3 DYSF FKRP MYOT TCAP TRIM32
31 spinocerebellar ataxia 11 9.2 CAPN3 DYSF FKRP MYOT TCAP TRIM32
32 neurodegeneration with brain iron accumulation 6 9.2 CAPN3 DYSF FKRP MYOT TCAP TRIM32
33 autosomal recessive limb-girdle muscular dystrophy type 2w 9.2 CAPN3 DYSF FKRP MYOT TCAP TRIM32
34 central corneal ulcer 9.2 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 by clinical synopsis from OMIM:

601954

Clinical features from OMIM:

601954

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

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

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
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 positive regulation of proteolysis GO:0045862 8.96 CAPN3 TRIM32
6 muscle cell cellular homeostasis GO:0046716 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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