DMDA1
MCID: ATS246
MIFTS: 41

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

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



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 myositis and autosomal recessive limb-girdle muscular dystrophy. 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 Dilated cardiomyopathy (DCM). The drugs Lisinopril and Coenzyme Q10 have been mentioned in the context of this disorder. Related phenotypes are macroglossia and waddling gait

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 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 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

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 myositis 29.4 CAPN3 DMD DYSF
2 autosomal recessive limb-girdle muscular dystrophy 28.4 CAPN3 DMD DYSF SGCA SGCD SGCG
3 muscular dystrophy 27.9 CAPN3 DMD DYSF MYOT SGCA SGCB
4 limb-girdle muscular dystrophy 27.8 CAPN3 DMD DYSF MYOT SGCA SGCB
5 muscular dystrophy, limb-girdle, autosomal recessive 5 11.8
6 muscular dystrophy, limb-girdle, autosomal recessive 3 11.1
7 myoglobinuria 10.1
8 muscular dystrophy, congenital merosin-deficient, 1a 10.1 DMD SGCA
9 mcleod syndrome 10.1 DMD SGCA
10 nonsyndromic deafness 10.0
11 dfnb1 10.0
12 muscular dystrophy, limb-girdle, autosomal dominant 1 10.0 MYOT SGCB
13 familial isolated dilated cardiomyopathy 10.0 DMD SGCD
14 autosomal recessive limb-girdle muscular dystrophy type 2l 10.0 DYSF SGCB
15 localized lipodystrophy 10.0 DMD DYSF
16 myopathy, myofibrillar, 2 10.0 DMD MYOT
17 cardiomyopathy, dilated, 3b 9.9 DMD SGCA SGCD
18 stormorken syndrome 9.9 DMD DYSF
19 rigid spine muscular dystrophy 1 9.9 DMD DYSF
20 polyglucosan body myopathy 1 with or without immunodeficiency 9.9 CAPN3 DMD
21 myopathy, congenital 9.9 DMD DYSF
22 isolated hyperckemia 9.9 CAPN3 DMD
23 myofibrillar myopathy 9.8 DMD MYOT
24 congenital fiber-type disproportion 9.8 DMD DYSF
25 muscular dystrophy, limb-girdle, autosomal recessive 8 9.8 CAPN3 DYSF
26 neuromuscular disease 9.8 DMD MYOT
27 muscular dystrophy, becker type 9.8 DMD DYSF SGCA
28 dysferlinopathy 9.8 CAPN3 DYSF
29 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 CAPN3 DYSF
30 atrial standstill 1 9.7 DMD MYOT
31 autosomal recessive limb-girdle muscular dystrophy type 2j 9.6 CAPN3 MYOT SGCB
32 myopathy 9.5 CAPN3 DYSF MYOT
33 bethlem myopathy 1 9.5 CAPN3 DMD DYSF
34 dilated cardiomyopathy 9.4 DMD SGCA SGCB SGCD SGCG
35 autosomal recessive limb-girdle muscular dystrophy type 2h 9.4 CAPN3 MYOT SGCB SGCG
36 muscular dystrophy, limb-girdle, autosomal recessive 7 9.2 CAPN3 DMD DYSF MYOT
37 miyoshi muscular dystrophy 9.2 CAPN3 DMD DYSF MYOT
38 autosomal recessive limb-girdle muscular dystrophy type 2g 9.1 CAPN3 DYSF MYOT SGCB SGCG
39 muscular dystrophy, limb-girdle, autosomal recessive 2 9.1 CAPN3 DYSF MYOT SGCA SGCB
40 autosomal recessive limb-girdle muscular dystrophy type 2d 8.9 CAPN3 DYSF SGCA SGCB SGCD SGCG
41 autosomal recessive limb-girdle muscular dystrophy type 2f 8.9 CAPN3 DYSF SGCA SGCB SGCD SGCG
42 autosomal recessive limb-girdle muscular dystrophy type 2a 8.9 CAPN3 DYSF MYOT SGCA SGCB SGCG
43 autosomal recessive limb-girdle muscular dystrophy type 2b 8.9 CAPN3 DMD DYSF SGCA SGCB SGCG
44 muscular dystrophy, limb-girdle, autosomal recessive 6 8.6 CAPN3 DMD DYSF SGCA SGCB SGCD
45 muscle tissue disease 8.6 CAPN3 DMD DYSF MYOT SGCA SGCD
46 muscular disease 8.3 CAPN3 DMD DYSF MYOT SGCA SGCB

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

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

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 macroglossia 33 frequent (33%) HP:0000158
2 waddling gait 33 frequent (33%) HP:0002515
3 emg: myopathic abnormalities 33 frequent (33%) HP:0003458
4 scapular winging 33 frequent (33%) HP:0003691
5 increased variability in muscle fiber diameter 33 frequent (33%) HP:0003557
6 upper limb muscle weakness 33 frequent (33%) HP:0003484
7 frequent falls 33 frequent (33%) HP:0002359
8 difficulty climbing stairs 33 frequent (33%) HP:0003551
9 difficulty running 33 frequent (33%) HP:0009046
10 calf muscle hypertrophy 33 frequent (33%) HP:0008981
11 calf muscle pseudohypertrophy 33 frequent (33%) HP:0003707
12 increased endomysial connective tissue 33 frequent (33%) HP:0100297
13 lumbar hyperlordosis 33 frequent (33%) HP:0002938
14 broad-based gait 33 frequent (33%) HP:0002136
15 right ventricular hypertrophy 33 frequent (33%) HP:0001667
16 emg: myotonic runs 33 frequent (33%) HP:0003730
17 emg: positive sharp waves 33 frequent (33%) HP:0030007
18 emg: myotonic discharges 33 frequent (33%) HP:0100284
19 elevated serum creatine kinase 33 frequent (33%) HP:0003236
20 abnormal macrophage morphology 33 frequent (33%) HP:0004311
21 scoliosis 33 occasional (7.5%) HP:0002650
22 achilles tendon contracture 33 occasional (7.5%) HP:0001771
23 long face 33 occasional (7.5%) HP:0000276
24 neck flexor weakness 33 occasional (7.5%) HP:0003722
25 gowers sign 33 occasional (7.5%) HP:0003391
26 tip-toe gait 33 occasional (7.5%) HP:0030051
27 left ventricular systolic dysfunction 33 occasional (7.5%) HP:0025169

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 CAPN3 DMD SGCA SGCB SGCD SGCG
2 muscle MP:0005369 9.17 CAPN3 DMD DYSF SGCA SGCB SGCD

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

Drugs for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
2
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
3 HIV Protease Inhibitors Phase 2, Phase 3
4 Ubiquinone Phase 2, Phase 3
5 Nutrients Phase 2, Phase 3
6
protease inhibitors Phase 2, Phase 3
7 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
8 Trace Elements Phase 2, Phase 3
9 Vitamins Phase 2, Phase 3
10 Cardiotonic Agents Phase 2, Phase 3
11 Micronutrients Phase 2, Phase 3
12 Antihypertensive Agents Phase 2, Phase 3
13 Protective Agents Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
2 Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1

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

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

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 9.97 CAPN3 DMD DYSF MYOT SGCA SGCB
2 cytoskeleton GO:0005856 9.8 DMD MYOT SGCA SGCB SGCD SGCG
3 Z disc GO:0030018 9.58 CAPN3 DMD MYOT
4 dystrophin-associated glycoprotein complex GO:0016010 9.56 DMD SGCA SGCB SGCD
5 myofibril GO:0030016 9.46 CAPN3 DMD
6 sarcoglycan complex GO:0016012 9.46 SGCA SGCB SGCD SGCG
7 T-tubule GO:0030315 9.43 CAPN3 DYSF
8 dystroglycan complex GO:0016011 9.26 SGCA SGCB SGCD SGCG
9 sarcolemma GO:0042383 9.17 DMD DYSF MYOT SGCA SGCB SGCD
10 cytoplasm GO:0005737 10.02 CAPN3 DMD MYOT SGCA SGCB SGCD

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.43 DYSF MYOT SGCA
2 muscle cell cellular homeostasis GO:0046716 9.4 CAPN3 DMD
3 heart contraction GO:0060047 9.37 SGCD SGCG
4 skeletal muscle tissue regeneration GO:0043403 9.33 DMD DYSF SGCA
5 response to denervation involved in regulation of muscle adaptation GO:0014894 9.32 DMD SGCA
6 muscle fiber development GO:0048747 9.13 DMD DYSF SGCB
7 muscle organ development GO:0007517 9.1 CAPN3 DMD SGCA SGCB SGCD SGCG

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 structural constituent of muscle GO:0008307 8.8 CAPN3 DMD MYOT

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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