DMDA
MCID: LMB021
MIFTS: 32

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

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

Summaries for Limb-Girdle Muscular Dystrophy, Type 2c

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44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Limb-Girdle Muscular Dystrophy, Type 2c, also known as gamma-sarcoglycanopathy, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy, Type 2c is SGCG (sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)).

Description from OMIM:48 253700

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

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44NIH Rare Diseases, 21GeneTests, 50Orphanet, 23GTR, 48OMIM, 63UMLS, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
gamma-sarcoglycanopathy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy, type 2c 44
gamma-sarcoglycanopathy 44 21 50
severe childhood autosomal recessive muscular dystrophy, north african type 44 23
lgmd2c 44 50
severe autosomal recessive muscular dystrophy of childhood - north african type 63
limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency 50
limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency 44
duchenne-like muscular dystrophy, autosomal recessive, type 1 44
autosomal recessive limb-girdle muscular dystrophy type 2c 50
severe childhood autosomal recessive muscular dystrophy 63
muscular dystrophy, limb-girdle, type 2c 48
muscular dystrophy, duchenne-like 44
adhalin deficiency, secondary 44
maghrebian myopathy 44
dmda1 44
dmda 44


External Ids:

OMIM48 253700
ICD10 via Orphanet27 G71.0

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

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18GeneCards, 19GeneDecks
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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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48OMIM
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Symptoms by clinical synopsis from OMIM:

253700

Clinical features from OMIM:

253700

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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

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21GeneTests, 23GTR
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Genetic tests related to Limb-Girdle Muscular Dystrophy, Type 2c:

id Genetic test Affiliating Genes
1 Gamma-Sarcoglycanopathy21 SGCG
2 Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type23

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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53PubMed
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Articles related to Limb-Girdle Muscular Dystrophy, Type 2c:

idTitleAuthorsYear
1
A phase I trial of adeno-associated virus serotype 1-I^-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. (22240777)
2012
2
Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD. (20350330)
2010
3
A novel mutation in two families with limb-girdle muscular dystrophy type 2C. (16832103)
2006
4
Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations. (10797406)
2000
5
Calcium homeostasis and ultrastructural studies in a patient with limb girdle muscular dystrophy type 2C. (10417666)
1999
6
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C. (9885023)
1998
7
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Limb-Girdle Muscular Dystrophy, Type 2c:

65
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:

1
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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy, Type 2c

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet