MCID: MSC120
MIFTS: 51

Muscular Dystrophy, Limb-Girdle, Type 2c

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

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2c 57 12 13
Lgmd2c 57 12 53 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 12 53 59 15
Dmda1 57 12 53 75
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 29 6 73
Limb-Girdle Muscular Dystrophy Due to Gamma-Sarcoglycan Deficiency 12 53 59
Gamma-Sarcoglycanopathy 12 53 59
Maghrebian Myopathy 57 12 53
Scarmd 57 12 75
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type 57 53
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type 12 75
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1 57 53
Muscular Dystrophy, Duchenne-Like 57 53
Adhalin Deficiency, Secondary 57 53
Dmda 57 53
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type; Scarmd 57
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1; Dmda1 57
Limb-Girdle Muscular Dystrophy with Gamma-Sarcoglycan Deficiency 53
Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1 12
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 1 75
Dystrophy, Muscular, Limb-Girdle, Type 2c ) 40
Limb-Girdle Muscular Dystrophy, Type 2c 53
Sarcoglycan, Gamma, Deficiency of 57
Limb-Girdle Muscular Dystrophy 2c 75
Deficiency of Sarcoglycan Gamma 12
Sarcoglycan Gamma Deficiency 75
Sarcoglycan, Gamma 13

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2c
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
rapid progression
onset 1-12 years
prevalent in north africa
wheelchair use by 10-30 years


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 253700
Disease Ontology 12 DOID:0110277
ICD10 33 G71.0
Orphanet 59 ORPHA353
UMLS via Orphanet 74 C0410173
ICD10 via Orphanet 34 G71.0
MedGen 42 C0410173
MeSH 44 D049288
UMLS 73 C0410173

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

NIH Rare Diseases : 53 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.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 2c, also known as lgmd2c, is related to muscular dystrophy, limb-girdle, type 2d and myositis. 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 Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include heart, tongue and lung, and related phenotypes are scoliosis and hyperlordosis

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 : 75 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 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z 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 Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2d 28.8 CAPN3 DYSF SGCA SGCD SGCG
2 myositis 28.5 CAPN3 DMD DYSF
3 limb-girdle muscular dystrophy 26.5 CAPN3 DMD DYSF SGCA SGCD SGCG
4 autosomal recessive limb-girdle muscular dystrophy 26.3 CAPN3 DMD DYSF SGCA SGCD SGCG
5 muscular dystrophy 25.7 CAPN3 DAG1 DMD DYSF SGCA SGCD
6 cardiomyopathy, dilated, 3b 10.2 DMD SGCA
7 lung cancer susceptibility 3 10.2
8 mcleod syndrome 10.2 DMD SGCA
9 cardiomyopathy, dilated, 1b 10.1 DAG1 DMD
10 muscular dystrophy, congenital, 1b 10.1 DAG1 DMD
11 cardiomyopathy, dilated, 1d 10.0 DAG1 DMD
12 isolated hyperckemia 10.0 CAPN3 DMD
13 muscular dystrophy-dystroglycanopathy , type b, 6 10.0 DAG1 DMD
14 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 CAPN3 DMD
15 cardiomyopathy, dilated, 1a 10.0 DAG1 DMD
16 myoglobinuria 9.9
17 familial isolated dilated cardiomyopathy 9.9 DMD SGCD
18 muscular dystrophy-dystroglycanopathy , type a, 4 9.9 DAG1 DMD
19 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 DAG1 DMD
20 nonsyndromic deafness 9.9
21 dfnb1 9.9
22 localized lipodystrophy 9.8 DMD DYSF
23 muscle eye brain disease 9.8 DAG1 DMD
24 autosomal recessive limb-girdle muscular dystrophy type 2e 9.7 CAPN3 SGCD SGCG
25 muscular dystrophy, congenital merosin-deficient, 1a 9.7 DAG1 DMD SGCA
26 walker-warburg syndrome 9.6 DAG1 DMD SGCA
27 muscular dystrophy, limb-girdle, type 2h 9.6 CAPN3 DYSF
28 stormorken syndrome 9.6 DMD DYSF
29 muscular dystrophy, limb-girdle, type 2g 9.6 CAPN3 DYSF
30 dysferlinopathy 9.6 CAPN3 DYSF
31 muscular dystrophy-dystroglycanopathy , type c, 5 9.5 CAPN3 DYSF
32 rigid spine muscular dystrophy 1 9.3 DMD DYSF
33 myocarditis 9.3 DAG1 DMD
34 muscular dystrophy, becker type 9.3 DMD DYSF SGCA
35 autosomal recessive limb-girdle muscular dystrophy type 2h 9.3 CAPN3 DYSF SGCG
36 congenital fiber-type disproportion 9.2 DMD DYSF
37 distal muscular dystrophy 9.1 CAPN3 DMD DYSF
38 bethlem myopathy 1 9.0 CAPN3 DMD DYSF
39 autosomal recessive limb-girdle muscular dystrophy type 2b 8.8 CAPN3 DYSF SGCA SGCG
40 dilated cardiomyopathy 8.7 DAG1 DMD SGCA SGCD SGCG
41 muscular dystrophy, limb-girdle, type 2b 8.6 CAPN3 DMD DYSF SGCA
42 autosomal recessive limb-girdle muscular dystrophy type 2f 8.3 CAPN3 DYSF SGCA SGCD SGCG
43 muscular dystrophy, limb-girdle, type 2f 7.6 CAPN3 DMD DYSF SGCA SGCD SGCG
44 myopathy 7.5 CAPN3 DAG1 DMD DYSF SGCA SGCG
45 muscle tissue disease 7.0 CAPN3 DAG1 DMD DYSF SGCA SGCD

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 via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
hyperlordosis

Cardiovascular Heart:
right ventricular hypertrophy
right ventricular dilatation
subclinical cardiac involvement in a subset of patients
abnormal precordial tall r waves on ekg

Skeletal Limbs:
joint contractures

Respiratory Lung:
pneumonia
restrictive lung disease

Muscle Soft Tissue:
calf muscle pseudohypertrophy
gowers sign
muscle fiber necrosis
muscle atrophy
progressive proximal muscle involvement
more
Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

253700

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

32 (show all 13)
# 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 restrictive ventilatory defect 32 HP:0002091
9 right ventricular hypertrophy 32 HP:0001667
10 right ventricular dilatation 32 HP:0005133
11 calf muscle pseudohypertrophy 32 HP:0003707
12 gowers sign 32 HP:0003391
13 muscle fiber necrosis 32 HP:0003713

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 SGCD SGCG CAPN3 DAG1 DMD SGCA
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)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
3 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
4 Antihypertensive Agents Phase 2, Phase 3
5 HIV Protease Inhibitors Phase 2, Phase 3
6 Micronutrients Phase 2, Phase 3
7
protease inhibitors Phase 2, Phase 3
8 Protective Agents Phase 2, Phase 3
9 Trace Elements Phase 2, Phase 3
10 Ubiquinone Phase 2, Phase 3
11 Vitamins Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
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:

# Genetic test Affiliating Genes
1 Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 29 SGCG

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

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

41
Heart, Tongue, Lung, Skeletal Muscle

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

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

(show all 11)
# Title Authors Year
1
Severe murine limb girdle muscular dystrophy type 2C pathology is diminished by FTY720 treatment. ( 27935071 )
2016
2
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. ( 25802879 )
2015
3
Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population. ( 24552312 )
2014
4
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C. ( 24638197 )
2014
5
A phase I trial of adeno-associated virus serotype 1-I^-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. ( 22240777 )
2012
6
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD. ( 20350330 )
2010
7
A novel mutation in two families with limb-girdle muscular dystrophy type 2C. ( 16832103 )
2006
8
Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations. ( 10797406 )
2000
9
Calcium homeostasis and ultrastructural studies in a patient with limb girdle muscular dystrophy type 2C. ( 10417666 )
1999
10
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C. ( 9885023 )
1998
11
A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C). ( 8530067 )
1995

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

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

75
# 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 top 50) (show all 113)
# 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 NM_000231.2(SGCG): c.848G> A (p.Cys283Tyr) single nucleotide variant Pathogenic rs104894422 GRCh38 Chromosome 13, 23324513: 23324513
5 SGCG SGCG, 2-BP DEL, 793TG deletion Pathogenic
6 SGCG SGCG, 1-BP INS, 87T insertion Pathogenic
7 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic rs104894423 GRCh37 Chromosome 13, 23898591: 23898591
8 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic rs104894423 GRCh38 Chromosome 13, 23324452: 23324452
9 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic rs104894423 NCBI36 Chromosome 13, 22796591: 22796591
10 SGCG NM_000231.2(SGCG): c.525delT (p.Phe175Leufs) deletion Pathogenic rs786204786 GRCh37 Chromosome 13, 23869573: 23869573
11 SGCG NM_000231.2(SGCG): c.525delT (p.Phe175Leufs) deletion Pathogenic rs786204786 GRCh38 Chromosome 13, 23295434: 23295434
12 SGCG NM_000231.2(SGCG): c.735dupC (p.Lys246Glnfs) duplication Pathogenic rs797044783 GRCh37 Chromosome 13, 23898539: 23898539
13 SGCG NM_000231.2(SGCG): c.735dupC (p.Lys246Glnfs) duplication Pathogenic rs797044783 GRCh38 Chromosome 13, 23324400: 23324400
14 SGCG NM_000231.2(SGCG): c.195+4_195+7delAGTA deletion Pathogenic/Likely pathogenic rs797045106 GRCh37 Chromosome 13, 23778032: 23778035
15 SGCG NM_000231.2(SGCG): c.195+4_195+7delAGTA deletion Pathogenic/Likely pathogenic rs797045106 GRCh38 Chromosome 13, 23203893: 23203896
16 SGCG NM_000231.2(SGCG): c.690T> A (p.Ser230Arg) single nucleotide variant Pathogenic rs875989949 GRCh37 Chromosome 13, 23894887: 23894887
17 SGCG NM_000231.2(SGCG): c.690T> A (p.Ser230Arg) single nucleotide variant Pathogenic rs875989949 GRCh38 Chromosome 13, 23320748: 23320748
18 SGCG NM_000231.2(SGCG): c.860G> A (p.Ser287Asn) single nucleotide variant Benign rs1800354 GRCh38 Chromosome 13, 23324525: 23324525
19 SGCG NM_000231.2(SGCG): c.860G> A (p.Ser287Asn) single nucleotide variant Benign rs1800354 GRCh37 Chromosome 13, 23898664: 23898664
20 SGCG NM_000231.2(SGCG): c.*10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139369964 GRCh37 Chromosome 13, 23898690: 23898690
21 SGCG NM_000231.2(SGCG): c.*10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs139369964 GRCh38 Chromosome 13, 23324551: 23324551
22 SGCG NM_000231.2(SGCG): c.581T> C (p.Leu194Ser) single nucleotide variant Pathogenic rs547818652 GRCh37 Chromosome 13, 23894778: 23894778
23 SGCG NM_000231.2(SGCG): c.581T> C (p.Leu194Ser) single nucleotide variant Pathogenic rs547818652 GRCh38 Chromosome 13, 23320639: 23320639
24 SGCG NM_000231.2(SGCG): c.507G> T (p.Gly169=) single nucleotide variant Conflicting interpretations of pathogenicity rs199905729 GRCh38 Chromosome 13, 23295416: 23295416
25 SGCG NM_000231.2(SGCG): c.507G> T (p.Gly169=) single nucleotide variant Conflicting interpretations of pathogenicity rs199905729 GRCh37 Chromosome 13, 23869555: 23869555
26 SGCG NM_000231.2(SGCG): c.452_458delTTACTGT (p.Phe151Terfs) deletion Pathogenic rs886042540 GRCh37 Chromosome 13, 23853564: 23853570
27 SGCG NM_000231.2(SGCG): c.452_458delTTACTGT (p.Phe151Terfs) deletion Pathogenic rs886042540 GRCh38 Chromosome 13, 23279425: 23279431
28 SGCG NM_000231.2(SGCG): c.195+1G> C single nucleotide variant Pathogenic rs200502077 GRCh37 Chromosome 13, 23778029: 23778029
29 SGCG NM_000231.2(SGCG): c.195+1G> C single nucleotide variant Pathogenic rs200502077 GRCh38 Chromosome 13, 23203890: 23203890
30 SGCG NM_000231.2(SGCG): c.752delC (p.Thr251Serfs) deletion Pathogenic rs886042749 GRCh37 Chromosome 13, 23898556: 23898556
31 SGCG NM_000231.2(SGCG): c.752delC (p.Thr251Serfs) deletion Pathogenic rs886042749 GRCh38 Chromosome 13, 23324417: 23324417
32 SGCG NM_000231.2(SGCG): c.386-2A> G single nucleotide variant Pathogenic rs886042757 GRCh37 Chromosome 13, 23853496: 23853496
33 SGCG NM_000231.2(SGCG): c.386-2A> G single nucleotide variant Pathogenic rs886042757 GRCh38 Chromosome 13, 23279357: 23279357
34 SGCG NM_000231.2(SGCG): c.235C> T (p.Arg79Cys) single nucleotide variant Uncertain significance rs148404730 GRCh37 Chromosome 13, 23808789: 23808789
35 SGCG NM_000231.2(SGCG): c.235C> T (p.Arg79Cys) single nucleotide variant Uncertain significance rs148404730 GRCh38 Chromosome 13, 23234650: 23234650
36 SGCG NM_000231.2(SGCG): c.596G> A (p.Arg199Gln) single nucleotide variant Uncertain significance rs200191311 GRCh37 Chromosome 13, 23894793: 23894793
37 SGCG NM_000231.2(SGCG): c.596G> A (p.Arg199Gln) single nucleotide variant Uncertain significance rs200191311 GRCh38 Chromosome 13, 23320654: 23320654
38 SGCG NM_000231.2(SGCG): c.832G> A (p.Gly278Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147820869 GRCh37 Chromosome 13, 23898636: 23898636
39 SGCG NM_000231.2(SGCG): c.832G> A (p.Gly278Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147820869 GRCh38 Chromosome 13, 23324497: 23324497
40 SGCG NM_000231.2(SGCG): c.599delG (p.Ser200Ilefs) deletion Pathogenic rs886043860 GRCh37 Chromosome 13, 23894796: 23894796
41 SGCG NM_000231.2(SGCG): c.599delG (p.Ser200Ilefs) deletion Pathogenic rs886043860 GRCh38 Chromosome 13, 23320657: 23320657
42 SACS; SGCG NM_000231.2(SGCG): c.*254G> A single nucleotide variant Benign/Likely benign rs3751371 GRCh37 Chromosome 13, 23898934: 23898934
43 SACS; SGCG NM_000231.2(SGCG): c.*254G> A single nucleotide variant Benign/Likely benign rs3751371 GRCh38 Chromosome 13, 23324795: 23324795
44 SGCG NM_000231.2(SGCG): c.236G> A (p.Arg79His) single nucleotide variant Uncertain significance rs375766013 GRCh37 Chromosome 13, 23808790: 23808790
45 SGCG NM_000231.2(SGCG): c.236G> A (p.Arg79His) single nucleotide variant Uncertain significance rs375766013 GRCh38 Chromosome 13, 23234651: 23234651
46 SGCG NM_000231.2(SGCG): c.158T> C (p.Leu53Pro) single nucleotide variant Pathogenic rs781760379 GRCh37 Chromosome 13, 23777991: 23777991
47 SGCG NM_000231.2(SGCG): c.158T> C (p.Leu53Pro) single nucleotide variant Pathogenic rs781760379 GRCh38 Chromosome 13, 23203852: 23203852
48 SGCG NM_000231.2(SGCG): c.275C> A (p.Ala92Asp) single nucleotide variant Uncertain significance rs886044395 GRCh37 Chromosome 13, 23808829: 23808829
49 SGCG NM_000231.2(SGCG): c.275C> A (p.Ala92Asp) single nucleotide variant Uncertain significance rs886044395 GRCh38 Chromosome 13, 23234690: 23234690
50 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
# 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 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.98 CAPN3 DAG1 DMD DYSF SGCA SGCD
2 cytoskeleton GO:0005856 9.72 DAG1 DMD SGCA SGCD SGCG
3 membrane raft GO:0045121 9.63 DAG1 DMD SGCA
4 lamellipodium GO:0030027 9.54 DAG1 DMD DYSF
5 filopodium GO:0030175 9.51 DAG1 DMD
6 myofibril GO:0030016 9.49 CAPN3 DMD
7 T-tubule GO:0030315 9.48 CAPN3 DYSF
8 dystrophin-associated glycoprotein complex GO:0016010 9.46 DAG1 DMD SGCA SGCD
9 sarcoglycan complex GO:0016012 9.43 SGCA SGCD SGCG
10 costamere GO:0043034 9.4 DAG1 DMD
11 dystroglycan complex GO:0016011 9.26 DAG1 SGCA SGCD SGCG
12 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:

# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.5 SGCA SGCD SGCG
2 muscle contraction GO:0006936 9.46 DYSF SGCA
3 cardiac muscle tissue development GO:0048738 9.43 SGCD SGCG
4 muscle cell cellular homeostasis GO:0046716 9.4 CAPN3 DMD
5 heart contraction GO:0060047 9.37 SGCD SGCG
6 skeletal muscle tissue regeneration GO:0043403 9.33 DAG1 DMD SGCA
7 muscle cell development GO:0055001 9.26 SGCD SGCG
8 response to denervation involved in regulation of muscle adaptation GO:0014894 9.13 DAG1 DMD SGCA
9 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:

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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