DMDA
MCID: LMB021
MIFTS: 33

Limb-Girdle Muscular Dystrophy, Type 2c (DMDA) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Limb-Girdle Muscular Dystrophy, Type 2c

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NIH Rare Diseases:42 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: Limb-Girdle Muscular Dystrophy, Type 2c, also known as gamma-sarcoglycanopathy, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including An important gene associated with Limb-Girdle Muscular Dystrophy, Type 2c is SGCG (sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)).

Description from OMIM:46 253700

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

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Limb-Girdle Muscular Dystrophy, Type 2c, Aliases & Descriptions:

Name: Limb-Girdle Muscular Dystrophy, Type 2c 42
Gamma-Sarcoglycanopathy 42 20 48
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type 42 22
Limb-Girdle Muscular Dystrophy with Gamma-Sarcoglycan Deficiency 42 62
Maghrebian Myopathy 42 62
Lgmd2c 42 48
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 62
Limb-Girdle Muscular Dystrophy Due to Gamma-Sarcoglycan Deficiency 48
 
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1 42
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 48
Muscular Dystrophy, Limb-Girdle, Type 2c 46
Muscular Dystrophy, Duchenne-Like 42
Adhalin Deficiency, Secondary 42
Dmda1 42
Dmda 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

48
gamma-sarcoglycanopathy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood


External Ids:

OMIM46 253700
ICD10 via Orphanet26 G71.0

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

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Graphical network of diseases related to Limb-Girdle Muscular Dystrophy, Type 2c:



Diseases related to limb-girdle muscular dystrophy, type 2c

Symptoms for Limb-Girdle Muscular Dystrophy, Type 2c

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Symptoms by clinical synopsis from OMIM:

253700

Clinical features from OMIM:

253700

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

(show all 14)
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 amyotrophy HP:0003202
8 elevated serum creatine phosphokinase HP:0003236
9 hyperlordosis HP:0003307
10 gowers sign HP:0003391
11 rapidly progressive HP:0003678
12 calf muscle pseudohypertrophy HP:0003707
13 muscle fiber necrosis HP:0003713
14 right ventricular dilatation HP:0005133

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

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Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy, Type 2c

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

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

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

id Genetic test Affiliating Genes
1 Gamma-Sarcoglycanopathy20 SGCG
2 Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type22

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

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

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Publications for Limb-Girdle Muscular Dystrophy, Type 2c

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

idTitleAuthorsYear
1
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C. (24638197)
2014
2
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
3
A phase I trial of adeno-associated virus serotype 1-I^-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. (22240777)
2012
4
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD. (20350330)
2010
5
A novel mutation in two families with limb-girdle muscular dystrophy type 2C. (16832103)
2006
6
Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations. (10797406)
2000
7
Calcium homeostasis and ultrastructural studies in a patient with limb girdle muscular dystrophy type 2C. (10417666)
1999
8
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C. (9885023)
1998
9
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 Limb-Girdle Muscular Dystrophy, Type 2c

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

64
id Symbol AA change Variation ID SNP ID
1SGCGp.Cys283TyrVAR_010398
2SGCGp.Gly69AspVAR_010430
3SGCGp.Gly69ArgVAR_012202

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

6
id Gene Name Type Significance SNP ID Assembly Location
1SGCGSGCG, 1-BP DEL, 525TdeletionPathogenic
2SGCGSGCG, 2-BP DEL, 801TCdeletionPathogenic
3SGCGNM_000231.2(SGCG): c.848G> A (p.Cys283Tyr)single nucleotide variantPathogenicrs104894422GRCh37Chr 13, 23898652: 23898652
4SGCGSGCG, 2-BP DEL, 793TGdeletionPathogenic
5SGCGSGCG, 1-BP INS, 87TinsertionPathogenic
6NM_000231.2(SGCG): c.787G> A (p.Glu263Lys)single nucleotide variantPathogenicrs104894423GRCh37Chr 13, 23898591: 23898591

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

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Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2c

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

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

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

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

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

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Sources for Limb-Girdle Muscular Dystrophy, Type 2c

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet