MCID: MSC122
MIFTS: 40

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 52 11 48 12 68
Lgmd2g 11 48 24 54 70 50
Limb-Girdle Muscular Dystrophy Due to Telethonin Deficiency 11 54
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 11 54
Limb-Girdle Muscular Dystrophy 2g 70 27
 
Limb-Girdle Muscular Dystrophy, Type 2g 48
Limb-Girdle Muscular Dystrophy Type 2g 24
Telethoninopathy 24
Lgmd 2g 24

Characteristics:

Orphanet epidemiological data:

54
lgmd2g:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy

HPO:

64
muscular dystrophy, limb-girdle, type 2g:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 601954
Disease Ontology11 DOID:0110281
ICD1030 G71.0
Orphanet54 ORPHA34514
ICD10 via Orphanet31 G71.0
MedGen37 C1866008
MeSH39 D049288

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

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UniProtKB/Swiss-Prot:70 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 cataract, 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), and among its related pathways are Striated Muscle Contraction and Cardiac conduction. Related mouse phenotypes are behavior/neurological and homeostasis/metabolism.

Disease Ontology:11 An autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding telethonin (TCAP).

Description from OMIM:52 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 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 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 2a10.9
2cataract10.3CAPN3, DYSF
3miyoshi muscular dystrophy 110.3CAPN3, DYSF
4dystrophinopathies10.2CAPN3, DYSF
5cerebellar agenesis10.2DMD, DYSF
6schindler disease10.2DMD, DYSF
7segawa syndrome, recessive10.1DMD, DYSF
8myostatin-related muscle hypertrophy10.1DMD, MYOT
9juvenile primary osteoporosis10.1CAPN3, FKRP
10microcephaly and chorioretinopathy 110.1DMD, DYSF
11cataract 16, multiple types10.1DMD, MYOT
12fletcher factor deficiency10.0CAPN3, DMD
13proliferating trichilemmal cyst10.0DMD, FKRP
14epilepsy, generalized, with febrile seizures plus, type 110.0DMD, MYOT
15colon cancer, advanced somatic9.9DMD, FKRP
16rippling muscle disease9.9DYSF, TTN
17muscular dystrophy, rigid spine, 19.9DMD, TTN
18myopathy, spheroid body9.9MYOT, TTN
19bethlem myopathy 19.9CAPN3, DMD, DYSF
20myopathy, lactic acidosis, and sideroblastic anemia9.8DMD, TTN
21myopathy, distal, 49.8DMD, DYSF, MYOT
22autosomal recessive limb-girdle muscular dystrophy9.8
23muscular dystrophy9.8
24limb-girdle muscular dystrophy9.8
25autoimmune thyroid disease 29.8MYOT, TTN
26muscular dystrophy, congenital9.8DMD, FKRP
27thrombocytopenia, x-linked9.7DMD, DYSF, FKRP
28autoimmune disease of skin and connective tissue9.7DMD, TTN
29occupational dermatitis9.6DMD, TTN
30cardiomyopathy, familial hypertrophic9.6TCAP, TTN
31longitudinal vaginal septum9.6DMD, TCAP, TTN
32adult malignant hemangiopericytoma9.6CAPN3, DYSF, TTN
33usher syndrome9.5DMD, TTN
34ectodermal dysplasia9.5DMD, TCAP, TTN
35extraosseous ewing's sarcoma9.4DYSF, MYOT, TTN
36adams-oliver syndrome 29.3DMD, TTN
37cardiovascular disease risk factor )9.3DMD, TCAP, TTN
38emery-dreifuss muscular dystrophy9.2CAPN3, DYSF, MYOT, TCAP, TRIM32
39classic variant of chromophobe renal cell carcinoma8.9CAPN3, DMD, DYSF, FKRP, MYOT
40median arcuate ligament syndrome8.3CAPN3, DMD, DYSF, FKRP, MYOT, TCAP

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

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Symptoms by clinical synopsis from OMIM:

601954

Clinical features from OMIM:

601954

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

 64 (show all 15)
id Description HPO Frequency HPO Source Accession
1 difficulty walking64 HP:0002355
2 areflexia of lower limbs64 HP:0002522
3 elevated serum creatine phosphokinase64 HP:0003236
4 difficulty climbing stairs64 HP:0003551
5 increased variability in muscle fiber diameter64 HP:0003557
6 muscular dystrophy64 HP:0003560
7 rimmed vacuoles64 HP:0003805
8 distal lower limb amyotrophy64 HP:0008944
9 proximal upper limb amyotrophy64 HP:0008948
10 calf muscle hypertrophy64 HP:0008981
11 proximal muscle weakness in upper limbs64 HP:0008997
12 increased connective tissue64 HP:0009025
13 foot dorsiflexor weakness64 HP:0009027
14 difficulty running64 HP:0009046
15 distal lower limb muscle weakness64 HP:0009053

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2g according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.2DMD, DYSF, FKRP, TCAP, TRIM32, TTN
2MP:00053767.7CAPN3, DMD, DYSF, FKRP, TCAP, TRIM32
3MP:00053697.7CAPN3, DMD, DYSF, FKRP, TCAP, TRIM32
4MP:00028737.5CAPN3, DMD, FKRP, MYOT, TTN

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 2g27
2 Limb-Girdle Muscular Dystrophy Type 2g24 TCAP

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

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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)SNVLikely pathogenicrs45495192GRCh37Chr 17, 37821644: 37821644
2TCAPNM_003673.3(TCAP): c.24_25insGAGGTGT (p.Ser11Terfs)insertionLikely pathogenicrs863224933GRCh37Chr 17, 37821636: 37821637
3TCAPNM_003673.3(TCAP): c.103G> T (p.Glu35Ter)SNVPathogenicrs779699520GRCh37Chr 17, 37821715: 37821715
4TCAPNM_003673.3(TCAP): c.43_49dupTGTGAGC (p.Arg17Leufs)duplicationLikely pathogenicrs886044421GRCh37Chr 17, 37821655: 37821661
5TCAPNM_003673.3(TCAP): c.157C> T (p.Gln53Ter)SNVLikely pathogenic, Pathogenicrs104894655GRCh37Chr 17, 37822015: 37822015
6TCAPNM_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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Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 2g according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:003031510.2CAPN3, DYSF
2myofibrilGO:003001610.1CAPN3, DMD
3dystrophin-associated glycoprotein complexGO:001601010.0DMD, FKRP
4I bandGO:00316749.9TCAP, TTN
5sarcolemmaGO:00423839.0DMD, DYSF, FKRP, MYOT
6Z discGO:00300187.8CAPN3, DMD, MYOT, TCAP, TTN

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of proteolysisGO:004586210.2CAPN3, TRIM32
2positive regulation of neuron differentiationGO:004566610.2DMD, TRIM32
3response to muscle stretchGO:003599410.0DMD, TCAP
4cardiac muscle fiber developmentGO:004873910.0TCAP, TTN
5cardiac muscle hypertrophyGO:000330010.0TCAP, TTN
6cardiac muscle tissue morphogenesisGO:005500810.0TCAP, TTN
7cardiac myofibril assemblyGO:005500310.0TCAP, TTN
8detection of muscle stretchGO:003599510.0TCAP, TTN
9muscle cell cellular homeostasisGO:00467169.8CAPN3, DMD, TRIM32
10regulation of catalytic activityGO:00507909.7CAPN3, TTN
11response to calcium ionGO:00515929.7CAPN3, TTN
12sarcomerogenesisGO:00487699.5TCAP, TTN
13skeletal muscle myosin thick filament assemblyGO:00302419.5TCAP, TTN
14cardiac muscle contractionGO:00600489.4DMD, TCAP, TTN
15muscle filament slidingGO:00300499.4DMD, TCAP, TTN
16muscle contractionGO:00069369.4DYSF, MYOT, TTN
17skeletal muscle thin filament assemblyGO:00302409.3TCAP, TTN
18sarcomere organizationGO:00452149.1CAPN3, TCAP, TTN

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

idNameGO IDScoreTop Affiliating Genes
1myosin bindingGO:001702210.1DMD, TRIM32
2protein self-associationGO:00436219.7TRIM32, TTN
3titin bindingGO:00314329.7CAPN3, TCAP
4structural constituent of muscleGO:00083078.1CAPN3, DMD, MYOT, TCAP, TTN

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet