MCID: MSC120
MIFTS: 35

Muscular Dystrophy, Limb-Girdle, Type 2c malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases categories

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

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2c 49 11
Lgmd2c 45 22 67
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type 45 24
Gamma-Sarcoglycanopathy 45 22
Scarmd 22 67
Dmda1 45 67
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 65
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type 67
Limb-Girdle Muscular Dystrophy with Gamma-Sarcoglycan Deficiency 45
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1 45
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 1 67
 
Severe Childhood Autosomal Recessive Muscular Dystrophy 22
Limb-Girdle Muscular Dystrophy, Type 2c 45
Muscular Dystrophy, Duchenne-Like 45
Limb-Girdle Muscular Dystrophy 2c 67
Muscular Dystrophies, Limb-Girdle 65
Adhalin Deficiency, Secondary 45
Sarcoglycan Gamma Deficiency 67
Maghrebian Myopathy 45
Sarcoglycan, Gamma 11
Dmda 45


Classifications:



External Ids:

OMIM49 253700
MedGen34 C0410173
MeSH36 D049288

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

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NIH Rare Diseases:45 Limb-girdle muscular dystrophy type 2c (lgmd2c) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene. 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, primarily those in the shoulders and around the hips. lgmd2c is inherited in an autosomal recessive manner, and treatment is based on an individual's symptoms. last updated: 4/14/2009

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2c, also known as lgmd2c, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including autosomal recessive inheritance, flexion contracture and right ventricular hypertrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2c is SGCG (Sarcoglycan, Gamma (35kDa Dystrophin-Associated Glycoprotein)), and among its related pathways are Hemostasis and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include lung and skeletal muscle.

UniProtKB/Swiss-Prot:67 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:49 253700

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

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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 Limb-Girdle Muscular Dystrophy Type 1d
Limb-Girdle Muscular Dystrophies, Autosomal Dominant Limb-Girdle Muscular Dystrophies, Autosomal Recessive
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

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

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy11.0
2muscular dystrophy11.0
3autosomal recessive limb-girdle muscular dystrophy type 2c10.8
4coronary heart disease 910.5
5mucolipidosis ii alpha/beta10.5
6noonan syndrome 110.5
7muscular dystrophy, limb-girdle, type 2a10.5
8coronary heart disease 310.5
9calpainopathy10.5
10muscle disorders10.5
11atrophic muscular disease10.5
12muscular atrophy10.5
13blood protein disease10.5
14muscle tissue disease10.5
15myopathy10.5
16neuromuscular disease10.5
17nonsyndromic deafness10.5
18respiratory system disease10.5
19dfnb110.5
20progressive muscular dystrophy10.5
21cardiomyopathy10.5
22sarcoglycanopathies10.5
23autosomal recessive limb-girdle muscular dystrophy type 2a10.5
24lung cancer susceptibility 310.1
25muscular dystrophy, limb-girdle, type 2d10.1
26arsacs10.1
27muscular dystrophy, limb-girdle, type 2c9.8SCG3, 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 for Muscular Dystrophy, Limb-Girdle, Type 2c

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Symptoms by clinical synopsis from OMIM:

253700

Clinical features from OMIM:

253700

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

(show all 15)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 flexion contracture HP:0001371
3 right ventricular hypertrophy HP:0001667
4 pneumonia HP:0002090
5 restrictive lung disease HP:0002091
6 scoliosis HP:0002650
7 skeletal muscle atrophy HP:0003202
8 elevated serum creatine phosphokinase HP:0003236
9 hyperlordosis HP:0003307
10 gowers sign HP:0003391
11 muscular dystrophy HP:0003560
12 rapidly progressive HP:0003678
13 calf muscle pseudohypertrophy HP:0003707
14 muscle fiber necrosis HP:0003713
15 right ventricular dilatation HP:0005133

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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lisinoprilapproved, investigationalPhase 2, Phase 311283915-83-75362119
Synonyms:
(2S)-1-[(2S)-6-amino-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]hexanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N(2)-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N(2)-(1-carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N(sup 2)-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
(S)-1-(N2-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
1-(N2-(1-Carboxy-3-phenylpropyl)-L-lysyl)-L-proline
1-[Nalpha-[(S)-1-Carboxy-3-phenylpropyl]-L-lysyl]-L-proline
76547-98-3
77726-95-5
83915-83-7 (Parent)
AC1NSFPF
Acerbon
Acercomp
Alapril
BB_NC-1454
BIDD:GT0755
BPBio1_000290
BRD-K67966701-335-03-5
BRN 4276619
BSPBio_000262
C21H31N3O5
CCRIS 3568
CHEBI:43755
CHEMBL1237
CID5362119
Carace
Cipral
Cipril
Coric
D08131
DB00722
DivK1c_001037
Doneka
EINECS 278-488-1
HMS1921B14
HMS2090O14
HMS2092L21
HMS503O15
I06-1895
ICI-209K
IDI1_001037
Inhibril
Inopril
KBio1_001037
KBio2_000977
KBio2_003545
KBio2_006113
KBio3_002002
KBioGR_001599
KBioSS_000977
L0220
LPR
LS-118899
Linopril
Linvas
Lipril
Lisinal
Lisinopril
Lisinopril (INN)
 
Lisinopril (anhydrous)
Lisinopril 10mg
Lisinopril 2.5mg
Lisinopril 20mg
Lisinopril 40mg
Lisinopril 5mg
Lisinopril Dihydrate
Lisinopril anhydrous
Lisinoprilum
Lisinoprilum [Latin]
Lisipril
Lisoril
Lispril
Longes
Loril
Lysinopril
MK 521
MK 522
MK-521
MLS001306436
MLS001306481
MolPort-002-507-428
N(2)-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline
N-(1(S)-Carboxy-3-phenylpropyl)-L-lysyl-L-proline
N2-((S)-1-Carboxy-3-phenylpropyl)-L-lysyl-L-proline
N2-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline
NCGC00179623-01
NINDS_001037
Noperten
Novatec
Presiten
Prestwick0_000301
Prestwick1_000301
Prestwick2_000301
Prestwick3_000301
Prinil
Prinivil
Prinzide
Renacor
SMR000544473
SPBio_001351
SPBio_002481
SPECTRUM1501217
Sinopril
Sinopryl
Spectrum2_001456
Spectrum3_000941
Spectrum4_001040
Spectrum5_000995
Spectrum_000497
TL8005499
Tensopril
Tensyn
Tersif
Vivatec
Zestoretic
Zestril
Zestril (TN)
[N2-[(S)-1-CARBOXY-3-PHENYLPROPYL]-L-LYSYL-L-PROLINE
[N2-[(S)-1-CARBOXY-3-phenylpropyl]-L-lysyl-L-proline
lisinopril
2UbiquinonePhase 2, Phase 390
3
Coenzyme Q10NutraceuticalPhase 2, Phase 3101303-98-05281915
Synonyms:
(all-E)-2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-Cyclohexadiene-1,4-dione
(all-E)-2-(3,7,11,15,19,23,27,31,35,39-decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-p-Benzoquinone
2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-Cyclohexadiene-1,4-dione
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q10
Ensorb
Kaneka Q10
Kudesan
 
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular DystrophiesEnrolling by invitationNCT01126697Phase 2, Phase 3
2Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2CCompletedNCT01344798Phase 1

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

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

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

id Genetic test Affiliating Genes
1 Gamma-Sarcoglycanopathy22 SGCG
2 Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type24

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

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

33
Lung, Skeletal muscle

Animal Models for Muscular Dystrophy, Limb-Girdle, Type 2c or affiliated genes

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

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

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

67
id Symbol AA change Variation ID SNP ID
1SGCGp.Cys283TyrVAR_010398
2SGCGp.Gly69AspVAR_010430
3SGCGp.Gly69ArgVAR_012202

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1SGCGNM_000231.2(SGCG): c.525delT (p.Phe175Leufs)deletionPathogenicrs786204786GRCh37Chr 13, 23869573: 23869573
2SGCGNM_000231.2(SGCG): c.735dupC (p.Lys246Glnfs)duplicationPathogenicrs797044783GRCh37Chr 13, 23898539: 23898539
3SGCGSGCG, 1-BP DEL, 525TdeletionPathogenic
4SGCGSGCG, 2-BP DEL, 801TCdeletionPathogenic
5SGCGNM_000231.2(SGCG): c.848G> A (p.Cys283Tyr)single nucleotide variantPathogenicrs104894422GRCh37Chr 13, 23898652: 23898652
6SGCGSGCG, 2-BP DEL, 793TGdeletionPathogenic
7SGCGSGCG, 1-BP INS, 87TinsertionPathogenic
8SGCGNM_000231.2(SGCG): c.787G> A (p.Glu263Lys)single nucleotide variantPathogenicrs104894423GRCh37Chr 13, 23898591: 23898591
9SGCGNM_000231.2(SGCG): c.195+4_195+7delAGTAdeletionPathogenicrs797045106GRCh38Chr 13, 23203893: 23203896

Expression for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2c

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

Pathways for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2c

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SCG3, SGCG
2
Show member pathways
9.1SCG3, SGCG

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

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet