MCID: MSC120
MIFTS: 53

Muscular Dystrophy, Limb-Girdle, Type 2c

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Muscle diseases, Neuronal 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 53 12 13
Lgmd2c 53 12 49 55 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 12 49 55 14
Dmda1 53 12 49 71
Limb-Girdle Muscular Dystrophy Due to Gamma-Sarcoglycan Deficiency 12 49 55
Gamma-Sarcoglycanopathy 12 49 55
Maghrebian Myopathy 53 12 49
Scarmd 53 12 71
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 28 69
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type 53 49
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type 12 71
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1 53 49
Muscular Dystrophy, Duchenne-Like 53 49
Adhalin Deficiency, Secondary 53 49
Dmda 53 49
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type; Scarmd 53
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1; Dmda1 53
Limb-Girdle Muscular Dystrophy with Gamma-Sarcoglycan Deficiency 49
Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1 12
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 1 71
Limb-Girdle Muscular Dystrophy, Type 2c 49
Sarcoglycan, Gamma, Deficiency of 53
Limb-Girdle Muscular Dystrophy 2c 71
Deficiency of Sarcoglycan Gamma 12
Sarcoglycan Gamma Deficiency 71
Sarcoglycan, Gamma 13

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive

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


HPO:

31
muscular dystrophy, limb-girdle, type 2c:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 253700
Disease Ontology 12 DOID:0110277
ICD10 32 G71.0
Orphanet 55 ORPHA353
UMLS via Orphanet 70 C0410173
ICD10 via Orphanet 33 G71.0
MedGen 39 C0410173
MeSH 41 D049288
UMLS 69 C0410173

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

NIH Rare Diseases : 49 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 myositis and muscular dystrophy, limb-girdle, type 2d, 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 Coenzyme Q10 have been mentioned in the context of this disorder. Affiliated tissues include heart, tongue and lung, 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 : 71 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 top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 myositis 29.0 CAPN3 DMD DYSF
2 muscular dystrophy, limb-girdle, type 2d 28.1 CAPN3 DYSF SGCA SGCD SGCG
3 autosomal recessive limb-girdle muscular dystrophy 27.9 CAPN3 DMD DYSF SGCA SGCD
4 limb-girdle muscular dystrophy 27.7 CAPN3 DMD DYSF SGCA SGCD SGCG
5 muscular dystrophy 27.3 CAPN3 DAG1 DMD DYSF SGCA SGCD
6 lung cancer susceptibility 3 10.2
7 cardiomyopathy, dilated, 3b 10.1 DMD SGCA
8 mcleod syndrome 10.1 DMD SGCA
9 cardiomyopathy, dilated, 1b 10.1 DAG1 DMD
10 muscular dystrophy, congenital, 1b 10.0 DAG1 DMD
11 isolated hyperckemia 10.0 CAPN3 DMD
12 cardiomyopathy, dilated, 1d 10.0 DAG1 DMD
13 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 CAPN3 DMD
14 cardiomyopathy, dilated, 1a 10.0 DAG1 DMD
15 muscular dystrophy-dystroglycanopathy , type b, 6 9.9 DAG1 DMD
16 muscular dystrophy-dystroglycanopathy , type a, 4 9.9 DAG1 DMD
17 myoglobinuria, acute recurrent, autosomal recessive 9.9
18 myoglobinuria 9.9
19 familial isolated dilated cardiomyopathy 9.9 DMD SGCD
20 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 DAG1 DMD
21 localized lipodystrophy 9.9 DMD DYSF
22 branchiootic syndrome 1 9.8
23 nonsyndromic deafness 9.8
24 deafness, autosomal dominant nonsyndromic sensorineural 3 9.8
25 dfnb1 9.8
26 muscular dystrophy, congenital merosin-deficient, 1a 9.8 DAG1 DMD SGCA
27 autosomal recessive limb-girdle muscular dystrophy type 2e 9.8 CAPN3 SGCD SGCG
28 muscle eye brain disease 9.8 DAG1 DMD SGCA
29 walker-warburg syndrome 9.8 DAG1 DMD SGCA
30 stormorken syndrome 9.8 DMD DYSF
31 miyoshi muscular dystrophy 1 9.7 CAPN3 DYSF
32 muscular dystrophy, limb-girdle, type 2h 9.7 CAPN3 DYSF
33 dysferlinopathy 9.7 CAPN3 DYSF
34 muscular dystrophy, limb-girdle, type 2g 9.7 CAPN3 DYSF
35 muscular dystrophy-dystroglycanopathy , type c, 5 9.7 CAPN3 DYSF
36 rigid spine muscular dystrophy 1 9.6 DMD DYSF
37 myocarditis 9.6 DAG1 DMD
38 autosomal recessive limb-girdle muscular dystrophy type 2h 9.5 CAPN3 DYSF SGCG
39 congenital fiber-type disproportion 9.5 DMD DYSF
40 muscular dystrophy, duchenne type 9.5 DAG1 DMD SGCA SGCD
41 distal muscular dystrophy 9.4 CAPN3 DMD DYSF
42 bethlem myopathy 1 9.4 CAPN3 DMD DYSF
43 autosomal recessive limb-girdle muscular dystrophy type 2b 9.2 CAPN3 DYSF SGCA SGCG
44 muscular dystrophy, becker type 9.2 DAG1 DMD DYSF SGCA
45 dilated cardiomyopathy 9.2 DAG1 DMD SGCA SGCD SGCG
46 muscular dystrophy, limb-girdle, type 2b 9.1 CAPN3 DMD DYSF SGCA
47 autosomal recessive limb-girdle muscular dystrophy type 2f 8.9 CAPN3 DYSF SGCA SGCD SGCG
48 myopathy 8.8 CAPN3 DMD DYSF SGCA SGCG
49 muscular dystrophy, limb-girdle, type 2f 8.5 CAPN3 DMD DYSF SGCA SGCD SGCG
50 muscular dystrophy, limb-girdle, type 2a 8.5 CAPN3 DMD 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 via clinical synopsis from OMIM:

53
SkeletalSpine:
scoliosis
hyperlordosis

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

SkeletalLimbs:
joint contractures

RespiratoryLung:
pneumonia
restrictive lung disease

MuscleSoftTissue:
calf muscle pseudohypertrophy
gowers sign
muscle fiber necrosis
muscle atrophy
progressive proximal muscle involvement
more
LaboratoryAbnormalities:
increased serum creatine kinase


Clinical features from OMIM:

253700

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

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 hyperlordosis 31 HP:0003307
3 flexion contracture 31 HP:0001371
4 elevated serum creatine phosphokinase 31 HP:0003236
5 skeletal muscle atrophy 31 HP:0003202
6 muscular dystrophy 31 HP:0003560
7 pneumonia 31 HP:0002090
8 right ventricular hypertrophy 31 HP:0001667
9 right ventricular dilatation 31 HP:0005133
10 calf muscle pseudohypertrophy 31 HP:0003707
11 gowers sign 31 HP:0003391
12 muscle fiber necrosis 31 HP:0003713
13 restrictive ventilatory defect 31 HP:0002091

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

43
# 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)
# 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 Ubiquinone Phase 2, Phase 3
4
protease inhibitors Phase 2, Phase 3
5 Micronutrients Phase 2, Phase 3
6 Trace Elements Phase 2, Phase 3
7 HIV Protease Inhibitors Phase 2, Phase 3
8 Vitamins Phase 2, Phase 3
9 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
10 Antihypertensive Agents Phase 2, Phase 3
11 Protective Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation 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 28 SGCG

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

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

38
Heart, Tongue, Lung, Skeletal Muscle

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

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

(show all 17)
# 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
Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients. ( 22367371 )
2012
6
A phase I trial of adeno-associated virus serotype 1-I^-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. ( 22240777 )
2012
7
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD. ( 20350330 )
2010
8
Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient. ( 19208398 )
2009
9
A novel mutation in two families with limb-girdle muscular dystrophy type 2C. ( 16832103 )
2006
10
Novel mutations in three patients with LGMD2C with phenotypic differences. ( 15087111 )
2004
11
Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients. ( 11053682 )
2000
12
Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations. ( 10797406 )
2000
13
Calcium homeostasis and ultrastructural studies in a patient with limb girdle muscular dystrophy type 2C. ( 10417666 )
1999
14
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C. ( 9885023 )
1998
15
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
16
Evidence for linkage disequilibrium in chromosome 13-linked Duchenne-like muscular dystrophy (LGMD2C) ( 7668303 )
1995
17
Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes. ( 8825917 )
1995

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

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

71
# 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 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGCG NM_000231.2(SGCG): c.525delT (p.Phe175Leufs) deletion Pathogenic rs786204786 GRCh37 Chromosome 13, 23869573: 23869573
2 SGCG NM_000231.2(SGCG): c.735dupC (p.Lys246Glnfs) duplication Pathogenic rs797044783 GRCh37 Chromosome 13, 23898539: 23898539
3 SGCG SGCG, 1-BP DEL, 525T deletion Pathogenic
4 SGCG SGCG, 2-BP DEL, 801TC deletion Pathogenic
5 SGCG NM_000231.2(SGCG): c.848G> A (p.Cys283Tyr) single nucleotide variant Pathogenic rs104894422 GRCh37 Chromosome 13, 23898652: 23898652
6 SGCG SGCG, 2-BP DEL, 793TG deletion Pathogenic
7 SGCG SGCG, 1-BP INS, 87T insertion Pathogenic
8 SGCG NM_000231.2(SGCG): c.787G> A (p.Glu263Lys) single nucleotide variant Pathogenic rs104894423 GRCh37 Chromosome 13, 23898591: 23898591
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
19 SGCG NM_000231.2(SGCG): c.702+1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 13, 23320761: 23320761

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 9.58 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 9.37 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 cardiac muscle tissue development GO:0048738 9.43 SGCD SGCG
3 muscle cell cellular homeostasis GO:0046716 9.4 CAPN3 DMD
4 heart contraction GO:0060047 9.37 SGCD SGCG
5 skeletal muscle tissue regeneration GO:0043403 9.33 DAG1 DMD SGCA
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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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