MCID: MSC120
MIFTS: 33

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

About this section

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2c 51 11 12
Lgmd2c 11 47 24 53 69
Gamma-Sarcoglycanopathy 11 47 24 53
Limb-Girdle Muscular Dystrophy Due to Gamma-Sarcoglycan Deficiency 11 47 53
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 11 47 53
Scarmd 11 24 69
Dmda1 11 47 69
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type 47 26
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type 11 69
Severe Childhood Autosomal Recessive Muscular Dystrophy 24 67
Maghrebian Myopathy 11 47
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 67
 
Limb-Girdle Muscular Dystrophy with Gamma-Sarcoglycan Deficiency 47
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1 47
Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1 11
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 1 69
Limb-Girdle Muscular Dystrophy, Type 2c 47
Limb-Girdle Muscular Dystrophy 2c 69
Muscular Dystrophy, Duchenne-Like 47
Deficiency of Sarcoglycan Gamma 11
Adhalin Deficiency, Secondary 47
Sarcoglycan Gamma Deficiency 69
Sarcoglycan, Gamma 12
Dmda 47

Characteristics:

Orphanet epidemiological data:

53
lgmd2c:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult

HPO:

63
muscular dystrophy, limb-girdle, type 2c:
Inheritance: autosomal recessive inheritance
Onset and clinical course: rapidly progressive

Classifications:



External Ids:

OMIM51 253700
Disease Ontology11 DOID:0110277
ICD1029 G71.0
Orphanet53 ORPHA353
ICD10 via Orphanet30 G71.0
MedGen36 C0410173
MeSH38 D049288

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

About this section
NIH Rare Diseases:47 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 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.

Disease Ontology:11 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:69 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:51 253700

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

About this section

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

About this section

Symptoms by clinical synopsis from OMIM:

253700

Clinical features from OMIM:

253700

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

 63 (show all 13)
id Description HPO Frequency HPO Source Accession
1 flexion contracture63 HP:0001371
2 right ventricular hypertrophy63 HP:0001667
3 pneumonia63 HP:0002090
4 restrictive ventilatory defect63 HP:0002091
5 scoliosis63 HP:0002650
6 skeletal muscle atrophy63 HP:0003202
7 elevated serum creatine phosphokinase63 HP:0003236
8 hyperlordosis63 HP:0003307
9 gowers sign63 HP:0003391
10 muscular dystrophy63 HP:0003560
11 calf muscle pseudohypertrophy63 HP:0003707
12 muscle fiber necrosis63 HP:0003713
13 right ventricular dilatation63 HP:0005133

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

About this section

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Lisinoprilapproved, investigationalPhase 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
2Protective AgentsPhase 2, Phase 37190
3Trace ElementsPhase 2, Phase 35802
4UbiquinonePhase 2, Phase 3139
5VitaminsPhase 2, Phase 35095
6
protease inhibitorsPhase 2, Phase 35320
Synonyms:
 
protease inhibitors
7MicronutrientsPhase 2, Phase 35802
8Antihypertensive AgentsPhase 2, Phase 34095
9HIV Protease InhibitorsPhase 2, Phase 35319
10Angiotensin-Converting Enzyme InhibitorsPhase 2, Phase 3711
11
Coenzyme Q10experimental, NutraceuticalPhase 2, Phase 3114303-98-05281915
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

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

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

About this section

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 Type26
2 Gamma-Sarcoglycanopathy24 SGCG

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

About this section

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

35
Heart, Tongue, Skeletal muscle

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

About this section

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

About this section

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

About this section

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

69
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 (show all 18)
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, 525TdeletionPathogenicChr na, -1: -1
4SGCGSGCG, 2-BP DEL, 801TCdeletionPathogenicChr na, -1: -1
5SGCGNM_000231.2(SGCG): c.848G> A (p.Cys283Tyr)SNVPathogenicrs104894422GRCh37Chr 13, 23898652: 23898652
6SGCGSGCG, 2-BP DEL, 793TGdeletionPathogenicChr na, -1: -1
7SGCGSGCG, 1-BP INS, 87TinsertionPathogenicChr na, -1: -1
8SGCGNM_000231.2(SGCG): c.787G> A (p.Glu263Lys)SNVPathogenicrs104894423GRCh37Chr 13, 23898591: 23898591
9SGCGNM_000231.2(SGCG): c.195+4_195+7delAGTAdeletionLikely pathogenic, Pathogenicrs797045106GRCh38Chr 13, 23203893: 23203896
10SGCGNM_000231.2(SGCG): c.690T> A (p.Ser230Arg)SNVPathogenicrs875989949GRCh37Chr 13, 23894887: 23894887
11SGCGNM_000231.2(SGCG): c.581T> C (p.Leu194Ser)SNVPathogenicrs547818652GRCh37Chr 13, 23894778: 23894778
12SGCGNM_000231.2(SGCG): c.452_458delTTACTGT (p.Phe151Terfs)deletionPathogenicrs886042540GRCh37Chr 13, 23853564: 23853570
13SGCGNM_000231.2(SGCG): c.195+1G> CSNVPathogenicrs200502077GRCh37Chr 13, 23778029: 23778029
14SGCGNM_000231.2(SGCG): c.752delC (p.Thr251Serfs)deletionPathogenicrs886042749GRCh37Chr 13, 23898556: 23898556
15SGCGNM_000231.2(SGCG): c.386-2A> GSNVPathogenicrs886042757GRCh37Chr 13, 23853496: 23853496
16SGCGNM_000231.2(SGCG): c.599delG (p.Ser200Ilefs)deletionPathogenicrs886043860GRCh37Chr 13, 23894796: 23894796
17SGCGNM_000231.2(SGCG): c.158T> C (p.Leu53Pro)SNVPathogenicrs781760379GRCh37Chr 13, 23777991: 23777991
18SGCGNM_000231.2(SGCG): c.385+2T> GSNVPathogenicrs200206447GRCh37Chr 13, 23824858: 23824858

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1262034X2940000031500000MicrodeletionDuchenne-like muscular dystrophy
2262131X3104726533267647InsertionDMDDuchenne-like muscular dystrophy

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

About this section
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

About this section

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

About this section

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet