MCID: MSC120
MIFTS: 33

Muscular Dystrophy, Limb-Girdle, Type 2c malady

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

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

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NIH Rare Diseases:41 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: Muscular Dystrophy, Limb-Girdle, Type 2c, also known as severe childhood autosomal recessive muscular dystrophy, north african type, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including autosomal recessive inheritance, flexion contracture and right ventricular hypertrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2c is SGCG (sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)). Affiliated tissues include lung.

Description from OMIM:45 253700

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

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 20GeneTests, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2c 45 10
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type 41 22
Epileptic Encephalopathy with Global Cerebral Demyelination 41 47
Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency 41 47
Gamma-Sarcoglycanopathy 41 20
Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type 60
Limb-Girdle Muscular Dystrophy with Gamma-Sarcoglycan Deficiency 41
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1 41
Limb-Girdle Muscular Dystrophy, Type 2c 41
Muscular Dystrophy, Duchenne-Like 41
 
Muscular Dystrophies, Limb-Girdle 60
Limb-Girdle Muscular Dystrophy 41
Adhalin Deficiency, Secondary 41
Maghrebian Myopathy 41
Sarcoglycan, Gamma 10
Lgmd2c 41
Dmda1 41
Lgmd 41
Dmda 41


Classifications:



External Ids:

OMIM45 253700
Orphanet47 353217
ICD10 via Orphanet26 G31.8

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 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
Muscular Dystrophy, Limb-Girdle, Type Ic Limb-Girdle Muscular Dystrophies, Autosomal Dominant
Limb-Girdle Muscular Dystrophy Type 1d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k

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

(show top 50)    (show all 88)
idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy11.6
2muscular dystrophy11.6
3myopathy11.0
4calpainopathy10.9
5muscular dystrophy, limb-girdle, type 2b10.8
6muscular dystrophy, limb-girdle, type 2e10.8
7limb-girdle muscular dystrophy, type 1g10.7
8muscular dystrophy, limb-girdle, type 1a10.7
9muscular dystrophy, limb-girdle, type 2d10.7
10muscular dystrophy, limb-girdle, type 1b10.7
11muscular dystrophy, limb-girdle, type 2f10.7
12muscular dystrophy, limb-girdle, type 2g10.7
13muscular dystrophy, limb-girdle, type 2h10.7
14epidermolysa bullosa simplex with muscular dystrophy10.6
15muscular dystrophy-dystroglycanopathy , type c, 110.6
16becker muscular dystrophy10.6
17emery-dreifuss muscular dystrophy10.6
18dysferlinopathy10.6
19sarcoglycanopathies10.6
20limb-girdle muscular dystrophies, autosomal dominant10.6
21autosomal recessive limb-girdle muscular dystrophy type 2q10.6
22autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency10.6
23autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency10.6
24autosomal recessive limb-girdle muscular dystrophy type 2c10.6
25autosomal dominant limb-girdle muscular dystrophy type 1c10.6
26autosomal dominant limb-girdle muscular dystrophy type 1g10.6
27autosomal recessive limb-girdle muscular dystrophy type 2i10.6
28autosomal recessive limb-girdle muscular dystrophy type 2k10.6
29spinal muscular atrophy10.5
30muscular atrophy10.5
31myositis10.5
32mental retardation10.5
33limb-girdle muscular dystrophy type 1d10.5
34collagen type vi-related autosomal dominant limb-girdle muscular dystrophy10.5
35autosomal recessive limb-girdle muscular dystrophy type 2j10.5
36autosomal recessive limb-girdle muscular dystrophy type 2p10.5
37autosomal recessive limb-girdle muscular dystrophy type 2m10.5
38autosomal recessive limb-girdle muscular dystrophy type 2l10.5
39autosomal recessive limb-girdle muscular dystrophy type 2o10.5
40autosomal recessive limb-girdle muscular dystrophy type 2n10.5
41autosomal dominant limb-girdle muscular dystrophy type 1h10.5
42autosomal recessive limb-girdle muscular dystrophy type 2t10.5
43autosomal dominant limb-girdle muscular dystrophy type 1f10.5
44autosomal dominant limb-girdle muscular dystrophy type 1d10.5
45autosomal dominant limb-girdle muscular dystrophy type 1e10.5
46muscular dystrophy-dystroglycanopathy , type c, 310.4
47bethlem myopathy10.4
48muscular dystrophy, limb-girdle, type 1h10.4
49muscular dystrophy, limb-girdle, type 1f10.4
50muscular dystrophy, limb-girdle, type 2q10.4

Graphical network of the top 20 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 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 Muscular Dystrophy, Limb-Girdle, Type 2c

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Drug clinical trials:

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

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

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 Gamma-Sarcoglycanopathy20 SGCG
2 Severe Autosomal Recessive Muscular Dystrophy of Childhood - North African Type22

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

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

31
Lung

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:

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

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

6
id Gene Variation 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 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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Compounds 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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Products 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet