Aliases & Classifications for Sarcoglycanopathies

MalaCards integrated aliases for Sarcoglycanopathies:

Name: Sarcoglycanopathies 24 69

Classifications:



Summaries for Sarcoglycanopathies

MalaCards based summary : Sarcoglycanopathies is related to autosomal recessive limb-girdle muscular dystrophy type 2f and autosomal recessive limb-girdle muscular dystrophy type 2e, and has symptoms including cheyne-stokes respiration, coughing and dyspnea. An important gene associated with Sarcoglycanopathies is SGCA (Sarcoglycan Alpha), and among its related pathways/superpathways are Allograft rejection and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include testes and heart, and related phenotypes are Negative genetic interaction between PTEN-/- and PTEN+/+ and cardiovascular system

Wikipedia : 72 The sarcoglycanopathies are a collection of diseases resulting from mutations in any of the four... more...

Related Diseases for Sarcoglycanopathies

Diseases related to Sarcoglycanopathies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2f 31.5 DYSF SGCA
2 autosomal recessive limb-girdle muscular dystrophy type 2e 30.6 DMD DYSF SGCA SGCD
3 muscular dystrophy, limb-girdle, type 2c 11.0
4 muscular dystrophy, limb-girdle, type 2d 11.0
5 muscular dystrophy, limb-girdle, type 2y 10.7
6 muscular dystrophy, limb-girdle, type 2f 10.7
7 dsg2-related dilated cardiomyopathy 10.5 DMD SGCA
8 properdin deficiency 10.5 DMD SGCA
9 d-minus hemolytic uremic syndrome 10.3 DMD UTRN
10 epb42-related hereditary spherocytosis 10.3 DMD UTRN
11 autosomal recessive nonsyndromic deafness 3 10.3 DAG1 DMD
12 muscular dystrophy, congenital, 1b 10.2 DAG1 DMD
13 cardiomyopathy, dilated, 1d 10.2 DAG1 DMD
14 muscular dystrophy 10.2
15 cardiomyopathy, dilated, 1a 10.1 DAG1 DMD
16 dermatofibrosarcoma protuberans 10.1 DAG1 DMD
17 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 10.1 DMD SGCD
18 muscular dystrophy-dystroglycanopathy , type b, 4 10.1 DAG1 DMD
19 complement component c2 deficiency 10.0 DAG1 DMD
20 cerebellar ataxia and hypogonadotropic hypogonadism 10.0 DAG1 DMD SGCA
21 limb-girdle muscular dystrophy 10.0
22 glycogen storage disease 0, muscle 10.0 DAG1 DMD
23 lopes gorlin syndrome 10.0 DMD DYSF
24 muscular dystrophy, congenital 10.0 DAG1 DMD SGCA
25 muscular phosphorylase kinase deficiency 10.0 DAG1 DMD SGCA
26 nonsyndromic deafness 9.9 DAG1 DMD SGCA
27 myoglobinuria 9.9
28 segawa syndrome, recessive 9.9 DMD DYSF
29 autosomal recessive limb-girdle muscular dystrophy 9.9
30 dystrophinopathies 9.9
31 lyme disease 9.8 DMD DYSF
32 autosomal recessive limb-girdle muscular dystrophy type 2h 9.8 DYSF SGCA SGCB
33 efemp2-related cutis laxa 9.7 AQP4 DYSF
34 duchenne muscular dystrophy 9.7
35 becker muscular dystrophy 9.7
36 myopathy 9.7
37 myositis 9.7
38 dysferlinopathy 9.7
39 cardiomyopathy 9.7
40 microcephaly and chorioretinopathy 1 9.6 DMD DYSF
41 muscular dystrophy, rigid spine, 1 9.5 DMD DYSF
42 mct8-specific thyroid hormone cell-membrane transporter deficiency 9.4 DYSF SGCA SGCB SGCG
43 hypertrophic cardiomyopathy 21 9.4 DYSF SGCA SGCD SGCG
44 ullrich congenital muscular dystrophy 1 9.3 DMD DYSF
45 ectodermal dysplasia 9.3 DAG1 DMD SGCA SGCD SGCG
46 craniofrontonasal dysplasia 9.3 DMD DYSF SGCA UTRN
47 acetyl-coa carboxylase deficiency 9.1 DYSF SGCA SGCB SGCD SGCG
48 peeling skin syndrome 2 8.7 DMD DYSF SGCA SGCB SGCD SGCG
49 immunodeficiency 34, mycobacteriosis, x-linked 8.6 AQP4 DAG1 DMD SGCA SGCB UTRN
50 clear cell sarcoma 8.6 DMD DYSF SGCA SGCB SGCG UTRN

Graphical network of the top 20 diseases related to Sarcoglycanopathies:



Diseases related to Sarcoglycanopathies

Symptoms & Phenotypes for Sarcoglycanopathies

UMLS symptoms related to Sarcoglycanopathies:


cheyne-stokes respiration, coughing, dyspnea, hoarseness

GenomeRNAi Phenotypes related to Sarcoglycanopathies according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between PTEN-/- and PTEN+/+ GR00255-A-3 8.92 AQP4 DMD SGCA SPTB

MGI Mouse Phenotypes related to Sarcoglycanopathies:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 UTRN DMD SGCA SGCB SGCD SGCG
2 homeostasis/metabolism MP:0005376 9.81 DAG1 UTRN DMD DYSF SGCA SGCD
3 growth/size/body region MP:0005378 9.8 DAG1 UTRN DMD SGCB SGCG AQP4
4 immune system MP:0005387 9.5 UTRN DMD DYSF SGCA SGCB AQP4
5 muscle MP:0005369 9.23 UTRN DMD DYSF SGCA SGCB SGCD

Drugs & Therapeutics for Sarcoglycanopathies

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Enrolling by invitation NCT01976091 Phase 1, Phase 2 scAAVrh74.tMCK.hSGCA
2 Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1
3 Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1

Search NIH Clinical Center for Sarcoglycanopathies

Genetic Tests for Sarcoglycanopathies

Genetic tests related to Sarcoglycanopathies:

id Genetic test Affiliating Genes
1 Sarcoglycanopathies 24

Anatomical Context for Sarcoglycanopathies

MalaCards organs/tissues related to Sarcoglycanopathies:

39
Testes, Heart

Publications for Sarcoglycanopathies

Articles related to Sarcoglycanopathies:

(show top 50) (show all 53)
id Title Authors Year
1
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. ( 28687063 )
2017
2
1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France. ( 28521973 )
2017
3
MRI in sarcoglycanopathies: a large international cohort study. ( 28889091 )
2017
4
Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults. ( 26453141 )
2015
5
Clinical aspects of patients with sarcoglycanopathies under steroids therapy. ( 25337728 )
2014
6
Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy. ( 23989969 )
2014
7
Left ventricular function in alpha-sarcoglycanopathy and gamma-sarcoglycanopathy. ( 24464767 )
2014
8
Acute ischemic stroke in gamma-sarcoglycanopathy. ( 23040950 )
2013
9
Sarcoglycanopathies. ( 21496623 )
2011
10
Phenotypic and immunohistochemical characterization of sarcoglycanopathies. ( 22012042 )
2011
11
The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. ( 22303798 )
2011
12
Cardiac diseases in sarcoglycanopathies. ( 19157606 )
2010
13
Episodic myoglobinuria in a primary gamma-sarcoglycanopathy. ( 20356742 )
2010
14
Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy. ( 19167890 )
2009
15
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. ( 19781108 )
2009
16
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? ( 18996010 )
2008
17
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. ( 18641458 )
2008
18
Revised spectrum of mutations in sarcoglycanopathies. ( 18285821 )
2008
19
Sarcoglycanopathies: a clinico-pathological study. ( 17558114 )
2007
20
Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina. ( 18421900 )
2007
21
Invited commentary. Sarcoglycanopathies: a clinico-pathological study. ( 17558106 )
2007
22
Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations. ( 16778590 )
2006
23
Beta-sarcoglycanopathy. ( 15684453 )
2005
24
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. ( 15954112 )
2005
25
Sarcoglycanopathies: a clinicopathological study of 13 cases [corrected]. ( 15626830 )
2004
26
Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family. ( 15938574 )
2004
27
Evaluation of sarcoglycans, vinculin-talin-integrin system and filamin2 in alpha- and gamma-sarcoglycanopathy: an immunohistochemical study. ( 15547664 )
2004
28
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. ( 12566530 )
2003
29
Gamma-sarcoglycanopathy. ( 14660840 )
2003
30
Sarcoglycanopathies: a report of 25 cases. ( 11960147 )
2002
31
Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. ( 11801399 )
2002
32
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. ( 11257475 )
2001
33
Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care. ( 11475588 )
2001
34
Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. ( 11369190 )
2001
35
gamma-Sarcoglycanopathy in two Palestinian-American siblings. ( 11261449 )
2001
36
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. ( 11562567 )
2001
37
Hip abduction sign: a new clinical sign in sarcoglycanopathies. ( 19078647 )
2001
38
Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. ( 10767327 )
2000
39
Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. ( 10714584 )
2000
40
Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients. ( 11053682 )
2000
41
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. ( 10993494 )
2000
42
Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction? ( 10514233 )
1999
43
Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins. ( 10450803 )
1999
44
The clinical spectrum of sarcoglycanopathies. ( 9921870 )
1999
45
[Sarcoglycanopathies]. ( 10101783 )
1999
46
Statistically significant differences in the number of CD24 positive muscle fibers and satellite cells between sarcoglycanopathy and age-matched Becker muscular dystrophy patients. ( 10397078 )
1999
47
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. ( 10385046 )
1999
48
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. ( 9832045 )
1998
49
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. ( 9533777 )
1998
50
[Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases]. ( 9658457 )
1998

Variations for Sarcoglycanopathies

Expression for Sarcoglycanopathies

Search GEO for disease gene expression data for Sarcoglycanopathies.

Pathways for Sarcoglycanopathies

GO Terms for Sarcoglycanopathies

Cellular components related to Sarcoglycanopathies according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.92 DAG1 DMD SGCA SGCB SGCD SGCG
2 membrane raft GO:0045121 9.71 DAG1 DMD SGCA
3 postsynaptic membrane GO:0045211 9.7 DAG1 DMD UTRN
4 sarcoglycan complex GO:0016012 9.56 SGCA SGCB SGCD SGCG
5 sarcolemma GO:0042383 9.56 DAG1 DMD DYSF SGCA SGCB SGCD
6 dystroglycan complex GO:0016011 9.55 DAG1 SGCA SGCB SGCD SGCG
7 filopodium GO:0030175 9.54 DAG1 DMD UTRN
8 lamellipodium GO:0030027 9.49 DAG1 DYSF
9 costamere GO:0043034 9.48 DAG1 DMD
10 filopodium membrane GO:0031527 9.46 DMD UTRN
11 contractile ring GO:0070938 9.4 DAG1 UTRN
12 dystrophin-associated glycoprotein complex GO:0016010 9.1 DAG1 DMD SGCA SGCB SGCD UTRN
13 cytoplasm GO:0005737 10.16 AQP4 DAG1 DMD SGCA SGCB SGCD
14 plasma membrane GO:0005886 10.09 AQP4 DAG1 DMD DYSF SGCA SGCB

Biological processes related to Sarcoglycanopathies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.56 SGCA SGCB SGCD SGCG
2 muscle contraction GO:0006936 9.54 DYSF SGCA UTRN
3 positive regulation of cell-matrix adhesion GO:0001954 9.48 DAG1 UTRN
4 cardiac muscle tissue development GO:0048738 9.46 SGCD SGCG
5 heart contraction GO:0060047 9.43 SGCD SGCG
6 muscle fiber development GO:0048747 9.4 DMD SGCB
7 skeletal muscle tissue regeneration GO:0043403 9.33 DAG1 DMD SGCA
8 muscle cell development GO:0055001 9.32 SGCD SGCG
9 response to denervation involved in regulation of muscle adaptation GO:0014894 9.26 DAG1 DMD SGCA UTRN
10 muscle organ development GO:0007517 9.1 DMD SGCA SGCB SGCD SGCG UTRN

Molecular functions related to Sarcoglycanopathies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.46 DAG1 DMD SPTB UTRN
2 structural constituent of muscle GO:0008307 9.26 DAG1 DMD
3 dystroglycan binding GO:0002162 8.96 DAG1 DMD
4 vinculin binding GO:0017166 8.8 DAG1 DMD UTRN

Sources for Sarcoglycanopathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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