DMDA
MCID: LMB021
MIFTS: 25

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

Neuronal diseases, Muscle diseases categories

Summaries for Limb-Girdle Muscular Dystrophy, Type 2c

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: 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)), and among its related pathways is Platelet activation, signaling and aggregation.

Description from OMIM:46 253700

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

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42NIH Rare Diseases, 20GeneTests, 48Orphanet, 46OMIM, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

limb-girdle muscular dystrophy, type 2c 42
gamma-sarcoglycanopathy 42 20 48
severe autosomal recessive muscular dystrophy of childhood - north african type 60
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
severe childhood autosomal recessive muscular dystrophy 60
muscular dystrophy, limb-girdle, type 2c 46
adhalin deficiency, secondary 42
lgmd2c 48
dmda1 42
dmda 42


External Ids:

OMIM46 253700
ICD10 via Orphanet26 G71.0

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

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17GeneCards, 18GeneDecks
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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

Clinical Features for Limb-Girdle Muscular Dystrophy, Type 2c

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46OMIM
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Clinical features from OMIM:

253700

Clinical synopsis from OMIM:

253700

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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20GeneTests
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Genetic tests related to Limb-Girdle Muscular Dystrophy, Type 2c:

id Genetic test Affiliating Genes
1 Gamma-Sarcoglycanopathy20 SGCG

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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Limb-Girdle Muscular Dystrophy, Type 2c:

62
id Symbol AA change Variation ID SNP ID
1SGCGp.Cys283TyrVAR_010398
2SGCGp.Gly69AspVAR_010430
3SGCGp.Gly69ArgVAR_012202

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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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53Reactome
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Pathways related to Limb-Girdle Muscular Dystrophy, Type 2c according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.1SCG3, TUBA3C

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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet