MCID: MSC120
MIFTS: 34

Muscular Dystrophy, Limb-Girdle, Type 2c malady

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

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 50 12
Lgmd2c 46 23 52 68
Gamma-Sarcoglycanopathy 46 23 52
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type 68 25
Limb-Girdle Muscular Dystrophy Due to Gamma-Sarcoglycan Deficiency 46 52
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 46 52
Severe Childhood Autosomal Recessive Muscular Dystrophy 23 66
Scarmd 23 68
Dmda1 46 68
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 66
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type 46
 
Limb-Girdle Muscular Dystrophy with Gamma-Sarcoglycan Deficiency 46
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1 46
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 1 68
Limb-Girdle Muscular Dystrophy, Type 2c 46
Muscular Dystrophy, Duchenne-Like 46
Limb-Girdle Muscular Dystrophy 2c 68
Adhalin Deficiency, Secondary 46
Sarcoglycan Gamma Deficiency 68
Maghrebian Myopathy 46
Sarcoglycan, Gamma 12
Dmda 46

Characteristics:

Orphanet epidemiological data:

52
lgmd2c:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult

HPO:

62
muscular dystrophy, limb-girdle, type 2c:
Inheritance: autosomal recessive inheritance
Onset and clinical course: rapidly progressive


Classifications:



External Ids:

OMIM50 253700
Orphanet52 ORPHA353
ICD10 via Orphanet29 G71.0
MedGen35 C0410173
MeSH37 D049288

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

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NIH Rare Diseases:46 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 limb-girdle muscular dystrophy, and has symptoms including flexion contracture, right ventricular hypertrophy and pneumonia. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2c is SGCG (Sarcoglycan Gamma). Affiliated tissues include heart, tongue and skeletal muscle.

UniProtKB/Swiss-Prot:68 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:50 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 Dystrophies, Autosomal Dominant
Limb-Girdle Muscular Dystrophies, Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 1d
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Limb-Girdle Muscular Dystrophy 2x

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

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 2d11.0
2limb-girdle muscular dystrophy10.8
3muscular dystrophy10.8
4sarcoglycanopathies10.5
5nonsyndromic deafness10.3
6dfnb110.3
7lung cancer susceptibility 310.1
8myoglobinuria10.0
9pulmonary hypertension, primary, 29.5SCG3, SGCG

Graphical network of 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 13)
id Description Frequency HPO Source Accession
1 flexion contracture HP:0001371
2 right ventricular hypertrophy HP:0001667
3 pneumonia HP:0002090
4 restrictive ventilatory defect HP:0002091
5 scoliosis HP:0002650
6 skeletal muscle atrophy HP:0003202
7 elevated serum creatine phosphokinase HP:0003236
8 hyperlordosis HP:0003307
9 gowers sign HP:0003391
10 muscular dystrophy HP:0003560
11 calf muscle pseudohypertrophy HP:0003707
12 muscle fiber necrosis HP:0003713
13 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
1UbiquinonePhase 2, Phase 3132
2
protease inhibitorsPhase 2, Phase 35157
Synonyms:
 
protease inhibitors
3
LisinoprilPhase 2, Phase 311883915-83-75362119
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 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
4
Coenzyme Q10NutraceuticalPhase 2, Phase 3108303-98-05281915
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 Q-10
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

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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 Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type25
2 Gamma-Sarcoglycanopathy23 SGCG

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

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

34
Heart, Tongue, 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:

68
id Symbol AA change Variation ID SNP ID
1SGCGp.Cys283TyrVAR_010398rs104894422
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
10SGCGNM_000231.2(SGCG): c.690T> A (p.Ser230Arg)single nucleotide variantPathogenicrs875989949GRCh37Chr 13, 23894887: 23894887

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
126203402940000031500000MicrodeletionDuchenne-like muscular dystrophy
226213103104726533267647InsertionDMDDuchenne-like muscular dystrophy

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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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet