LGMD2C
MCID: MSC120
MIFTS: 47

Muscular Dystrophy, Limb-Girdle, Type 2c (LGMD2C) malady

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2c 54 12 13
Lgmd2c 12 50 24 56 66
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 12 50 56 14
Gamma-Sarcoglycanopathy 12 50 24 56
Limb-Girdle Muscular Dystrophy Due to Gamma-Sarcoglycan Deficiency 12 50 56
Scarmd 12 24 66
Dmda1 12 50 66
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type 50 29
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type 12 66
Severe Childhood Autosomal Recessive Muscular Dystrophy 24 69
Maghrebian Myopathy 12 50
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 69
Limb-Girdle Muscular Dystrophy with Gamma-Sarcoglycan Deficiency 50
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1 50
Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1 12
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 1 66
Limb-Girdle Muscular Dystrophy, Type 2c 50
Muscular Dystrophy, Duchenne-Like 50
Limb-Girdle Muscular Dystrophy 2c 66
Deficiency of Sarcoglycan Gamma 12
Adhalin Deficiency, Secondary 50
Sarcoglycan Gamma Deficiency 66
Sarcoglycan, Gamma 13
Dmda 50

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive limb-girdle muscular dystrophy type 2c
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult;

HPO:

32
muscular dystrophy, limb-girdle, type 2c:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 253700
Disease Ontology 12 DOID:0110277
ICD10 33 G71.0
Orphanet 56 ORPHA353
ICD10 via Orphanet 34 G71.0
MedGen 40 C0410173
MeSH 42 D049288

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

NIH Rare Diseases : 50 limb-girdle muscular dystrophy type 2c (lgmd2c) is a genetic condition that affects the voluntary muscles around the hips and shoulders. this condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles. symptoms of lgmd2c usually appear around 6-8 years of age, may be mild or severe, and can progress to loss of the ability to walk by 12-16 years. symptoms may additionally include: enlargement (hypertrophy) of the calf muscle and tongue, diseases of the heart muscle (cardiomyopathy), and respiratory abnormalities. lgmd2c is caused by mutations in the sgcg gene and is inherited in an autosomal recessive manner. although there is no specific treatment or cure for lgmd2c, there are ways to manage the symptoms. a team of doctors or specialists is often needed to figure out the treatment options for each person. last updated: 8/9/2016

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 2c, also known as lgmd2c, is related to muscular dystrophy, limb-girdle, type 2d and sarcoglycanopathies, and has symptoms including scoliosis, hyperlordosis and flexion contracture. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2c is SGCG (Sarcoglycan Gamma), and among its related pathways/superpathways are Allograft rejection and Degradation of the extracellular matrix. The drugs Lisinopril and Angiotensin-Converting Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, tongue and skeletal muscle, and related phenotypes are cardiovascular system and homeostasis/metabolism

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.

UniProtKB/Swiss-Prot : 66 Limb-girdle muscular dystrophy 2C: An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining.

Description from OMIM: 253700

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

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 2c via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2d 10.8
2 sarcoglycanopathies 10.4
3 eif2b1-related childhood ataxia with central nervous system hypomyelination/vanishing white matter 10.1 DMD SGCA
4 prosthetic joint infection 10.1 DMD SGCA
5 autosomal recessive nonsyndromic deafness 47 10.1 DAG1 DMD
6 cardiomyopathy, dilated, 1aa, with or without lvnc 10.1 DAG1 DMD
7 cardiomyopathy, familial restrictive, 3 10.1 DAG1 DMD
8 lung cancer susceptibility 3 10.1
9 lipodystrophy, familial partial, 2 10.1 DAG1 DMD
10 dermatofibrosarcoma protuberans 10.1 DAG1 DMD
11 cone-rod dystrophy, prph2-related 10.1 DAG1 DMD
12 cardiomyopathy, dilated, 1x 10.1 DAG1 DMD
13 glycogen storage disease 0, muscle 10.0 DAG1 DMD
14 muscular dystrophy 10.0
15 muscular dystrophy, limb-girdle, type 1b 10.0 DAG1 DMD
16 lumbar malsegmentation short stature 10.0 DMD DYSF
17 sudden infant death with dysgenesis of the testes syndrome 10.0 DAG1 DMD SGCA
18 microscopic breast papilloma 10.0 DAG1 DMD
19 myasthenia gravis, limb-girdle 10.0 DAG1 DMD SGCA
20 autosomal dominant nonsyndromic deafness 9.9 DAG1 DMD SGCA
21 cerebral hemorrhage 9.9 CAPN3 DYSF
22 pervasive developmental disorder 9.9 DMD SGCD
23 immunodeficiency 34, mycobacteriosis, x-linked 9.9 DAG1 DMD SGCA
24 congenital heart defects, multiple types, 3 9.9 CAPN3 DYSF
25 autosomal dominant limb-girdle muscular dystrophy type 1c 9.9 CAPN3 DYSF
26 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 9.9 CAPN3 DYSF
27 ceroid lipofuscinosis, neuronal, 2 9.9 DMD DYSF
28 neurodegeneration with brain iron accumulation 6 9.9 CAPN3 DYSF
29 ehlers-danlos syndrome, kyphoscoliotic form 9.9 CAPN3 DYSF
30 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 9.9 CAPN3 DMD
31 inflammatory bowel disease 14 9.9 DMD DYSF
32 muscular dystrophy, rigid spine, 1 9.9 DMD DYSF
33 charcot-marie-tooth disease, type 2b2 9.9 CAPN3 DYSF
34 microcephaly and chorioretinopathy 2 9.9 DMD DYSF
35 primary cutaneous gamma/delta-positive t-cell lymphoma 9.9 DMD SGCD
36 myoglobinuria 9.8
37 myositis 9.8
38 thrombocytopenia, x-linked 9.8 DMD DYSF SGCA
39 autosomal recessive limb-girdle muscular dystrophy type 2w 9.8 CAPN3 DYSF SGCA
40 hypereosinophilic syndrome, idiopathic, resistant to imatinib 9.8 CAPN3 DYSF SGCA
41 cdkl5-related angelman-like syndrome 9.8 DAG1 DMD SGCA SGCD
42 emery-dreifuss muscular dystrophy, dominant type 9.8 DAG1 DMD SGCA SGCD
43 lyme disease 9.8 CAPN3 DMD DYSF
44 ullrich congenital muscular dystrophy 1 9.8 CAPN3 DMD DYSF
45 vulvar eccrine adenocarcinoma 9.7 CAPN3 DMD DYSF
46 spinocerebellar ataxia 11 9.7 CAPN3 DYSF SGCA SGCG
47 malignant hyperthermia susceptibility 9.7 CAPN3 DYSF SGCA SGCG
48 myopathy, distal, with anterior tibial onset 9.6 CAPN3 DMD DYSF SGCA
49 asthma-related traits 6 9.5 CAPN3 DYSF SGCA SGCD SGCG
50 autosomal recessive limb-girdle muscular dystrophy type 2x 9.5 CAPN3 DYSF SGCA SGCD SGCG

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



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

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

Symptoms by clinical synopsis from OMIM:

253700

Clinical features from OMIM:

253700

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

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 hyperlordosis 32 HP:0003307
3 flexion contracture 32 HP:0001371
4 elevated serum creatine phosphokinase 32 HP:0003236
5 skeletal muscle atrophy 32 HP:0003202
6 muscular dystrophy 32 HP:0003560
7 pneumonia 32 HP:0002090
8 right ventricular hypertrophy 32 HP:0001667
9 calf muscle pseudohypertrophy 32 HP:0003707
10 gowers sign 32 HP:0003391
11 muscle fiber necrosis 32 HP:0003713
12 restrictive ventilatory defect 32 HP:0002091
13 right ventricular dilatation 32 HP:0005133

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 CAPN3 DAG1 DMD SGCA SGCD SGCG
2 homeostasis/metabolism MP:0005376 9.5 CAPN3 DAG1 DMD DYSF SGCA SGCD
3 muscle MP:0005369 9.17 CAPN3 DAG1 DMD DYSF SGCA SGCD

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

Drugs for Muscular Dystrophy, Limb-Girdle, Type 2c (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7 5362119
2 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
3 Antihypertensive Agents Phase 2, Phase 3
4 HIV Protease Inhibitors Phase 2, Phase 3
5 Micronutrients Phase 2, Phase 3
6
protease inhibitors Phase 2, Phase 3
7 Protective Agents Phase 2, Phase 3
8 Trace Elements Phase 2, Phase 3
9 Ubiquinone Phase 2, Phase 3
10 Vitamins Phase 2, Phase 3
11
Coenzyme Q10 Experimental, Nutraceutical Phase 2, Phase 3 303-98-0 5281915

Interventional clinical trials:


id Name Status NCT ID Phase
1 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3
2 Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1

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

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

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

id Genetic test Affiliating Genes
1 Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 29
2 Gamma-Sarcoglycanopathy 24 SGCG

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

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 2c:

39
Heart, Tongue, Skeletal Muscle

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

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

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2c:

66
id Symbol AA change Variation ID SNP ID
1 SGCG p.Cys283Tyr VAR_010398 rs104894422
2 SGCG p.Gly69Asp VAR_010430
3 SGCG p.Gly69Arg VAR_012202

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

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 SGCG SGCG, 1-BP DEL, 525T deletion Pathogenic
2 SGCG SGCG, 2-BP DEL, 801TC deletion Pathogenic
3 SGCG NM_000231.2(SGCG): c.848G> A (p.Cys283Tyr) single nucleotide variant Pathogenic rs104894422 GRCh37 Chromosome 13, 23898652: 23898652
4 SGCG SGCG, 2-BP DEL, 793TG deletion Pathogenic
5 SGCG SGCG, 1-BP INS, 87T insertion Pathogenic
6 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic rs104894423 GRCh37 Chromosome 13, 23898591: 23898591
7 SGCG NM_000231.2(SGCG): c.525delT (p.Phe175Leufs) deletion Pathogenic rs786204786 GRCh37 Chromosome 13, 23869573: 23869573
8 SGCG NM_000231.2(SGCG): c.735dupC (p.Lys246Glnfs) duplication Pathogenic rs797044783 GRCh37 Chromosome 13, 23898539: 23898539
9 SGCG NM_000231.2(SGCG): c.195+4_195+7delAGTA deletion Pathogenic/Likely pathogenic rs797045106 GRCh38 Chromosome 13, 23203893: 23203896
10 SGCG NM_000231.2(SGCG): c.690T> A (p.Ser230Arg) single nucleotide variant Pathogenic rs875989949 GRCh37 Chromosome 13, 23894887: 23894887
11 SGCG NM_000231.2(SGCG): c.581T> C (p.Leu194Ser) single nucleotide variant Pathogenic rs547818652 GRCh37 Chromosome 13, 23894778: 23894778
12 SGCG NM_000231.2(SGCG): c.452_458delTTACTGT (p.Phe151Terfs) deletion Pathogenic rs886042540 GRCh37 Chromosome 13, 23853564: 23853570
13 SGCG NM_000231.2(SGCG): c.195+1G> C single nucleotide variant Pathogenic rs200502077 GRCh37 Chromosome 13, 23778029: 23778029
14 SGCG NM_000231.2(SGCG): c.752delC (p.Thr251Serfs) deletion Pathogenic rs886042749 GRCh37 Chromosome 13, 23898556: 23898556
15 SGCG NM_000231.2(SGCG): c.386-2A> G single nucleotide variant Pathogenic rs886042757 GRCh37 Chromosome 13, 23853496: 23853496
16 SGCG NM_000231.2(SGCG): c.599delG (p.Ser200Ilefs) deletion Pathogenic rs886043860 GRCh37 Chromosome 13, 23894796: 23894796
17 SGCG NM_000231.2(SGCG): c.158T> C (p.Leu53Pro) single nucleotide variant Pathogenic rs781760379 GRCh37 Chromosome 13, 23777991: 23777991
18 SGCG NM_000231.2(SGCG): c.385+2T> G single nucleotide variant Pathogenic rs200206447 GRCh37 Chromosome 13, 23824858: 23824858

Copy number variations for Muscular Dystrophy, Limb-Girdle, Type 2c from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 262034 X 29400000 31500000 Microdeletion Duchenne-like muscular dystrophy
2 262131 X 31047265 33267647 Insertion DMD Duchenne-like muscular dystrophy

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

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

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

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

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.95 CAPN3 DAG1 DMD DYSF SGCA SGCD
2 cytoskeleton GO:0005856 9.72 DAG1 DMD SGCA SGCD SGCG
3 membrane raft GO:0045121 9.61 DAG1 DMD SGCA
4 filopodium GO:0030175 9.49 DAG1 DMD
5 myofibril GO:0030016 9.48 CAPN3 DMD
6 T-tubule GO:0030315 9.46 CAPN3 DYSF
7 dystrophin-associated glycoprotein complex GO:0016010 9.46 DAG1 DMD SGCA SGCD
8 sarcoglycan complex GO:0016012 9.43 SGCA SGCD SGCG
9 costamere GO:0043034 9.37 DAG1 DMD
10 dystroglycan complex GO:0016011 9.26 DAG1 SGCA SGCD SGCG
11 sarcolemma GO:0042383 9.1 DAG1 DMD DYSF SGCA SGCD SGCG

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

id Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.61 SGCA SGCD SGCG
2 cardiac muscle tissue development GO:0048738 9.4 SGCD SGCG
3 muscle cell cellular homeostasis GO:0046716 9.37 CAPN3 DMD
4 skeletal muscle tissue regeneration GO:0043403 9.33 DAG1 DMD SGCA
5 heart contraction GO:0060047 9.32 SGCD SGCG
6 muscle cell development GO:0055001 9.26 SGCD SGCG
7 response to denervation involved in regulation of muscle adaptation GO:0014894 9.13 DAG1 DMD SGCA
8 muscle organ development GO:0007517 9.02 CAPN3 DMD SGCA SGCD SGCG

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.56 CAPN3 DAG1 DYSF SGCA
2 vinculin binding GO:0017166 9.16 DAG1 DMD
3 dystroglycan binding GO:0002162 8.96 DAG1 DMD
4 structural constituent of muscle GO:0008307 8.8 CAPN3 DAG1 DMD

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

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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