DMDA1
MCID: ATS246
MIFTS: 33

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c (DMDA1)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

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

MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c:

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 12 15
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type 12
Limb-Girdle Muscular Dystrophy Due to Gamma-Sarcoglycan Deficiency 12
Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1 12
Muscular Dystrophy, Limb-Girdle, Type 2c 12
Deficiency of Sarcoglycan Gamma 12
Gamma-Sarcoglycanopathy 12
Maghrebian Myopathy 12
Lgmd2c 12
Scarmd 12
Dmda1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110277
ICD10 32 G71.0

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c, also known as severe childhood autosomal recessive muscular dystrophy north african type, is related to progressive muscular dystrophy and myositis. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c is SGCG (Sarcoglycan Gamma), and among its related pathways/superpathways are Allograft rejection and Degradation of the extracellular matrix. Related phenotypes are Increased gamma-H2AX phosphorylation and behavior/neurological

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

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

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 progressive muscular dystrophy 30.4 SGCA DMD
2 myositis 30.0 DYSF DMD CAPN3
3 muscular dystrophy, limb-girdle, autosomal recessive 4 28.9 TCAP SGCB SGCA FKRP DYSF CAPN3
4 limb-girdle muscular dystrophy 28.5 TCAP SGCG SGCD SGCB SGCA MYOT
5 muscular dystrophy, limb-girdle, autosomal recessive 6 28.3 TCAP SGCG SGCD SGCB SGCA FKRP
6 muscular dystrophy, becker type 27.9 SSPN SGCG SGCD SGCB SGCA LAMA2
7 myopathy 26.8 TCAP SGCG SGCD SGCB SGCA MYOT
8 autosomal recessive limb-girdle muscular dystrophy type 2d 26.7 TCAP SSPN SGCG SGCD SGCB SGCA
9 muscular dystrophy 26.5 TCAP SSPN SGCG SGCD SGCB SGCA
10 autosomal recessive limb-girdle muscular dystrophy 26.3 TCAP SSPN SGCG SGCD SGCB SGCA
11 muscular dystrophy, limb-girdle, autosomal recessive 5 11.7
12 localized lipodystrophy 10.2 DYSF DMD
13 mcleod syndrome 10.2 SGCA DMD
14 foot drop 10.2 MYOT DYSF
15 autosomal dominant distal myopathy 10.2 MYOT DMD
16 paresthesia 10.1 FKRP CAPN3
17 limb-girdle muscular dystrophy type 1c 10.1 FKRP DYSF
18 dysferlinopathy 10.1 SGCA DYSF CAPN3
19 rippling muscle disease 2 10.1 SSPN DYSF
20 cardiomyopathy, dilated, 1l 10.1 SGCD SGCB
21 muscular dystrophy, limb-girdle, autosomal dominant 1 10.1 MYOT DYSF CAPN3
22 congenital muscular dystrophy-dystroglycanopathy type a5 10.0 FKRP DAG1
23 myopathy, myofibrillar, 1 10.0 MYOT DMD CAPN3
24 congenital muscular dystrophy-dystroglycanopathy type a1 10.0 FKRP DAG1
25 congenital muscular dystrophy-dystroglycanopathy a14 10.0 LAMA2 DAG1
26 muscular dystrophy, limb-girdle, autosomal recessive 3 10.0
27 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 FKRP DMD CAPN3
28 muscular dystrophy, limb-girdle, autosomal recessive 1 10.0
29 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.0
30 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
31 myoglobinuria 10.0
32 hypereosinophilic syndrome 10.0
33 muscular dystrophy-dystroglycanopathy , type b, 6 10.0 FKRP DAG1
34 muscular dystrophy-dystroglycanopathy , type c, 9 10.0 SGCB MYOT DAG1
35 myopathy, spheroid body 10.0 TCAP MYOT
36 gas gangrene 10.0 DMD DAG1
37 muscular dystrophy, congenital, due to integrin alpha-7 deficiency 9.9 LAMA2 DAG1
38 x-linked monogenic disease 9.9 SGCA DMD DAG1
39 myopathy, myofibrillar, 4 9.9 TCAP MYOT
40 cobblestone lissencephaly 9.9 FKRP DMD DAG1
41 intrinsic cardiomyopathy 9.9 TCAP SGCD DMD
42 autosomal dominant limb-girdle muscular dystrophy 9.9 TCAP MYOT CAPN3
43 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.9 FKRP DYSF DMD CAPN3
44 myopathy, myofibrillar, 9, with early respiratory failure 9.9 TCAP MYOT CAPN3
45 spastic ataxia, charlevoix-saguenay type 9.9
46 ataxia and polyneuropathy, adult-onset 9.9
47 branchiootic syndrome 1 9.9
48 autosomal recessive disease 9.9
49 spastic ataxia 9.9
50 peripheral nervous system disease 9.9

Graphical network of the top 20 diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c:



Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

GenomeRNAi Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.17 ANO5 DMD DYSF LAMA2 SGCA SSPN

MGI Mouse Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 ANO5 DAG1 DMD DYSF FKRP LAMA2
2 cardiovascular system MP:0005385 9.9 ANO5 CAPN3 DAG1 DMD FKRP LTBP4
3 homeostasis/metabolism MP:0005376 9.77 ANO5 CAPN3 DAG1 DMD DYSF FKRP
4 muscle MP:0005369 9.47 ANO5 CAPN3 DAG1 DMD DYSF FKRP

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1
2 Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), and Type 2C (LGMD2C/R5) Recruiting NCT04475926

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

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

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

(show all 40)
# Title Authors PMID Year
1
Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea. 61
16936393 2006
2
Adhalin deficiency: an unusual cause of muscular dystrophy. 61
11770249 2001
3
Distinguishing cardiac features of a novel form of congenital muscular dystrophy (Salih cmd). 61
11455396 2001
4
Histopathologic features of masseter muscle in the distrophic hamster (UM-X7.1 Syrian hamster). 61
11552288 2001
5
gamma-sarcoglycan deficiency muscular dystrophy in two adults. 61
11061077 2000
6
Diagnosis of muscular dystrophies : the changing concepts. 61
29508774 1998
7
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. 61
9533777 1998
8
[Clinicopathological characteristics and molecular genetics of adhalin deficiency (severe childhood autosomal recessive muscular dystrophy/SCARMD)]. 61
9436427 1997
9
[Adhalin(alpha-sarcoglycan) gene mutations in patients with malignant limb-girdle muscular dystrophy (MLGMD) (Miyoshi)]. 61
9436428 1997
10
New missense mutation in the alpha-sarcoglycan gene in a Japanese patient with severe childhood autosomal recessive muscular dystrophy with incomplete alpha-sarcoglycan deficiency. 61
9455986 1997
11
[Gene analysis in patients with muscular dystrophy: alpha-sarcoglycan (adhalin) gene mutations in patients with malignant limb-girdle muscular dystrophy]. 61
9120997 1997
12
Childhood neuromuscular disorders: a decade's experience in Saudi Arabia. 61
8985523 1996
13
[Neurologic diseases and chromosome 17]. 61
9072299 1996
14
alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations. 61
8866424 1996
15
[Muscular dystrophy and dystrophin and its associated proteins]. 61
8851278 1996
16
Clinical and molecular pathological features of severe childhood autosomal recessive muscular dystrophy in Saudi Arabia. 61
8631523 1996
17
[Adhalin gene mutations in malignant limb-girdle muscular dystrophy and clinical features in adhalin-deficient muscular dystrophy]. 61
8741343 1996
18
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. 61
8641426 1996
19
[Severe childhood autosomal recessive muscular dystrophy]. 61
8752417 1995
20
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. 61
7481775 1995
21
Profiles of neuromuscular diseases. Limb-girdle syndromes. 61
7576419 1995
22
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. 61
8528203 1995
23
[Clinical and genetic heterogeneity of limb-girdle muscular dystrophy]. 61
8544936 1995
24
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. 61
7663524 1995
25
Laminin abnormality in severe childhood autosomal recessive muscular dystrophy. 61
7783429 1995
26
[Dystrophin, dystrophin-associated protein and dystrophinopathy]. 61
7584723 1995
27
[Muscle pathologic diagnosis--mechanism in muscle fiber degeneration]. 61
7774135 1994
28
Human adhalin is alternatively spliced and the gene is located on chromosome 17q21. 61
7937874 1994
29
Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle. 61
8093083 1994
30
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. 61
8069911 1994
31
Assessment of the 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy. 61
8064304 1994
32
Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa. 61
8071965 1994
33
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. 61
8012357 1994
34
Deficiency of the 50 kDa dystrophin-associated glycoprotein and abnormal expression of utrophin in two south Asian cousins with variable expression of severe childhood autosomal recessive muscular dystrophy. 61
8012192 1994
35
Selective defect in dystrophin-associated glycoproteins 50DAG (A2) and 35DAG (A4) in the dystrophic hamster: an animal model for severe childhood autosomal recessive muscular dystrophy (SCARMD). 61
8173351 1994
36
Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency. 61
7987694 1994
37
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. 61
8242065 1993
38
Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries. 61
8044705 1993
39
Deficiency of dystrophin-associated proteins: a common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies. 61
8358236 1993
40
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. 61
1406935 1992

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

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

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Pathways related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 SGCG SGCD SGCB SGCA LAMA2 DMD
2
Show member pathways
12.37 LTBP4 LAMA2 DMD DAG1 CAPN3
3
Show member pathways
11.77 SGCG SGCD SGCB SGCA LAMA2 DMD
4 11.35 SGCG SGCD SGCB SGCA LAMA2 DMD
5 10.74 SSPN LAMA2 DMD DAG1

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

Cellular components related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.15 SSPN SGCG SGCD SGCB SGCA MYOT
2 cytoskeleton GO:0005856 9.95 SGCG SGCD SGCB SGCA MYOT DMD
3 postsynaptic membrane GO:0045211 9.63 SSPN DMD DAG1
4 Z disc GO:0030018 9.62 TCAP MYOT DMD CAPN3
5 sarcoglycan complex GO:0016012 9.46 SGCG SGCD SGCB SGCA
6 costamere GO:0043034 9.43 DMD DAG1
7 dystroglycan complex GO:0016011 9.43 SGCB SGCA DAG1
8 dystrophin-associated glycoprotein complex GO:0016010 9.43 SSPN SGCD SGCB SGCA DMD DAG1
9 sarcolemma GO:0042383 9.36 SSPN SGCG SGCD SGCB SGCA MYOT

Biological processes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 sarcomere organization GO:0045214 9.52 TCAP CAPN3
2 maintenance of permeability of blood-brain barrier GO:0035633 9.51 LAMA2 DMD
3 positive regulation of cell-matrix adhesion GO:0001954 9.49 DMD DAG1
4 cardiac muscle tissue development GO:0048738 9.48 SGCG SGCD
5 muscle cell cellular homeostasis GO:0046716 9.46 DMD CAPN3
6 muscle contraction GO:0006936 9.46 SSPN SGCA MYOT DYSF
7 response to muscle stretch GO:0035994 9.43 TCAP DMD
8 skeletal muscle tissue regeneration GO:0043403 9.43 SGCA DMD DAG1
9 heart contraction GO:0060047 9.4 SGCG SGCD
10 muscle fiber development GO:0048747 9.37 SGCB DMD
11 Schwann cell differentiation GO:0014037 9.32 LAMA2 DAG1
12 muscle organ development GO:0007517 9.17 SGCG SGCD SGCB SGCA LAMA2 DMD
13 response to denervation involved in regulation of muscle adaptation GO:0014894 9.13 SGCA DMD DAG1

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.72 SGCA LTBP4 DYSF DAG1 CAPN3
2 alpha-actinin binding GO:0051393 9.37 MYOT DAG1
3 titin binding GO:0031432 9.26 TCAP CAPN3
4 vinculin binding GO:0017166 9.16 DMD DAG1
5 dystroglycan binding GO:0002162 9.13 FKRP DMD DAG1
6 structural constituent of muscle GO:0008307 9.02 TCAP MYOT DMD DAG1 CAPN3

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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