MCID: SRC016
MIFTS: 33

Sarcoglycanopathies malady

Categories: Genetic diseases

Aliases & Classifications for Sarcoglycanopathies

Aliases & Descriptions for Sarcoglycanopathies:

Name: Sarcoglycanopathies 24 69

Classifications:



Summaries for Sarcoglycanopathies

MalaCards based summary : Sarcoglycanopathies is related to muscular dystrophy, limb-girdle, type 2e and muscular dystrophy, limb-girdle, type 2d, 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 : 71 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 57)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2e 11.1
2 muscular dystrophy, limb-girdle, type 2d 11.1
3 muscular dystrophy, limb-girdle, type 2c 11.1
4 autosomal recessive limb-girdle muscular dystrophy type 2f 11.1
5 muscular dystrophy, limb-girdle, type 2f 10.8
6 eif2b1-related childhood ataxia with central nervous system hypomyelination/vanishing white matter 10.2 DMD SGCA
7 prosthetic joint infection 10.2 DMD SGCA
8 muscular dystrophy 10.2
9 dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis 10.2 DMD UTRN
10 autosomal recessive nonsyndromic deafness 47 10.1 DAG1 DMD
11 cardiomyopathy, dilated, 1aa, with or without lvnc 10.1 DAG1 DMD
12 cardiomyopathy, familial restrictive, 3 10.1 DAG1 DMD
13 lipodystrophy, familial partial, 2 10.1 DAG1 DMD
14 dermatofibrosarcoma protuberans 10.1 DAG1 DMD
15 epimerase deficiency galactosemia 10.1 DMD UTRN
16 cone-rod dystrophy, prph2-related 10.1 DAG1 DMD
17 cardiomyopathy, dilated, 1x 10.1 DAG1 DMD
18 cerebral hemorrhage 10.0 DYSF SGCB
19 sudden infant death with dysgenesis of the testes syndrome 10.0 DAG1 DMD SGCA
20 autosomal recessive limb-girdle muscular dystrophy type 2w 10.0 DYSF SGCA
21 myasthenia gravis, limb-girdle 10.0 DAG1 DMD SGCA
22 lumbar malsegmentation short stature 10.0 DMD DYSF
23 glycogen storage disease 0, muscle 10.0 DAG1 DMD
24 autosomal dominant nonsyndromic deafness 10.0 DAG1 DMD SGCA
25 limb-girdle muscular dystrophy 10.0
26 muscular dystrophy, limb-girdle, type 1b 10.0 DAG1 DMD UTRN
27 spinocerebellar ataxia 11 9.9 DYSF SGCA SGCG
28 hypereosinophilic syndrome, idiopathic, resistant to imatinib 9.9 DYSF SGCA SGCB
29 myoglobinuria 9.9
30 ceroid lipofuscinosis, neuronal, 2 9.9 DMD DYSF
31 ehlers-danlos syndrome, kyphoscoliotic form 9.9 AQP4 DYSF
32 lyme disease 9.9 DMD DYSF
33 ullrich congenital muscular dystrophy 1 9.9 DMD DYSF
34 cdkl5-related angelman-like syndrome 9.9 DAG1 DMD SGCA SGCD
35 emery-dreifuss muscular dystrophy, dominant type 9.9 DAG1 DMD SGCA SGCD
36 inflammatory bowel disease 14 9.8 DMD DYSF
37 dystrophinopathies 9.8
38 autosomal recessive limb-girdle muscular dystrophy 9.8
39 malignant hyperthermia susceptibility 9.8 DYSF SGCA SGCB SGCG
40 autosomal recessive limb-girdle muscular dystrophy type 2x 9.8 DYSF SGCA SGCD SGCG
41 myopathy, distal, with anterior tibial onset 9.8 DMD DYSF SGCA SGCB
42 autosomal recessive limb-girdle muscular dystrophy type 2h 9.8 DMD DYSF SGCA SGCD
43 muscular dystrophy, rigid spine, 1 9.8 DMD DYSF
44 thrombocytopenia, x-linked 9.7 DMD DYSF SGCA UTRN
45 myopathy 9.7
46 myositis 9.7
47 dysferlinopathy 9.7
48 cardiomyopathy 9.7
49 duchenne muscular dystrophy 9.7
50 becker muscular dystrophy 9.7

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 SGCA SGCB SGCD SGCG AQP4 SPTB
2 homeostasis/metabolism MP:0005376 9.81 DYSF SGCA SGCD SGCG AQP4 SPTB
3 growth/size/body region MP:0005378 9.8 DMD SGCB SGCG AQP4 SPTB DAG1
4 immune system MP:0005387 9.5 DYSF SGCA SGCB AQP4 SPTB UTRN
5 muscle MP:0005369 9.23 DYSF SGCA SGCB SGCD SGCG DAG1

Drugs & Therapeutics for Sarcoglycanopathies

Interventional clinical trials:


id Name Status NCT ID Phase
1 Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Enrolling by invitation NCT01976091 Phase 1, Phase 2
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 all 50)
id Title Authors Year
1
Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults. ( 26453141 )
2015
2
Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy. ( 23989969 )
2014
3
Clinical aspects of patients with sarcoglycanopathies under steroids therapy. ( 25337728 )
2014
4
Left ventricular function in alpha-sarcoglycanopathy and gamma-sarcoglycanopathy. ( 24464767 )
2014
5
Acute ischemic stroke in gamma-sarcoglycanopathy. ( 23040950 )
2013
6
Sarcoglycanopathies. ( 21496623 )
2011
7
The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. ( 22303798 )
2011
8
Phenotypic and immunohistochemical characterization of sarcoglycanopathies. ( 22012042 )
2011
9
Episodic myoglobinuria in a primary gamma-sarcoglycanopathy. ( 20356742 )
2010
10
Cardiac diseases in sarcoglycanopathies. ( 19157606 )
2010
11
Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopathy. ( 19167890 )
2009
12
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. ( 19781108 )
2009
13
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. ( 18641458 )
2008
14
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? ( 18996010 )
2008
15
Revised spectrum of mutations in sarcoglycanopathies. ( 18285821 )
2008
16
Invited commentary. Sarcoglycanopathies: a clinico-pathological study. ( 17558106 )
2007
17
Sarcoglycanopathies: a clinico-pathological study. ( 17558114 )
2007
18
Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina. ( 18421900 )
2007
19
Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations. ( 16778590 )
2006
20
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. ( 15954112 )
2005
21
Beta-sarcoglycanopathy. ( 15684453 )
2005
22
Sarcoglycanopathies: a clinicopathological study of 13 cases [corrected]. ( 15626830 )
2004
23
Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family. ( 15938574 )
2004
24
Evaluation of sarcoglycans, vinculin-talin-integrin system and filamin2 in alpha- and gamma-sarcoglycanopathy: an immunohistochemical study. ( 15547664 )
2004
25
Gamma-sarcoglycanopathy. ( 14660840 )
2003
26
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. ( 12566530 )
2003
27
Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. ( 11801399 )
2002
28
Sarcoglycanopathies: a report of 25 cases. ( 11960147 )
2002
29
Hip abduction sign: a new clinical sign in sarcoglycanopathies. ( 19078647 )
2001
30
Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. ( 11369190 )
2001
31
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. ( 11562567 )
2001
32
gamma-Sarcoglycanopathy in two Palestinian-American siblings. ( 11261449 )
2001
33
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. ( 11257475 )
2001
34
Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care. ( 11475588 )
2001
35
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. ( 10993494 )
2000
36
Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients. ( 11053682 )
2000
37
Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. ( 10714584 )
2000
38
Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. ( 10767327 )
2000
39
Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction? ( 10514233 )
1999
40
Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins. ( 10450803 )
1999
41
[Sarcoglycanopathies]. ( 10101783 )
1999
42
The clinical spectrum of sarcoglycanopathies. ( 9921870 )
1999
43
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
44
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. ( 10385046 )
1999
45
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. ( 9533777 )
1998
46
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
47
[Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases]. ( 9658457 )
1998
48
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. ( 9153448 )
1997
49
From adhalinopathies to alpha-sarcoglycanopathies: an overview. ( 9027856 )
1996
50
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. ( 9018456 )
1996

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 13)
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 9.7 DAG1 DMD SGCA
3 postsynaptic membrane GO:0045211 9.69 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 costamere GO:0043034 9.48 DAG1 DMD
9 filopodium membrane GO:0031527 9.46 DMD UTRN
10 contractile ring GO:0070938 9.4 DAG1 UTRN
11 dystrophin-associated glycoprotein complex GO:0016010 9.1 DAG1 DMD SGCA SGCB SGCD UTRN
12 cytoplasm GO:0005737 10.15 AQP4 DAG1 DMD SGCA SGCB SGCD
13 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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