MCID: QLT011
MIFTS: 24

Qualitative or Quantitative Defects of Sarcoglycan

Categories: Rare diseases

Aliases & Classifications for Qualitative or Quantitative Defects of Sarcoglycan

MalaCards integrated aliases for Qualitative or Quantitative Defects of Sarcoglycan:

Name: Qualitative or Quantitative Defects of Sarcoglycan 59
Sarcoglycanopathies 37 6
Sarcoglycanopathy 59

Classifications:



External Ids:

KEGG 37 H00565
UMLS via Orphanet 73 C2936331
Orphanet 59 ORPHA207052

Summaries for Qualitative or Quantitative Defects of Sarcoglycan

KEGG : 37
Sarcoglycanopathies are a group of a four genetically closely related muscular dystrophies with a phenotype often similar to the X-linked Duchenne muscular dystrophy [DS:H00562]. It has been demonstrated that pathological mutations of the alpha-sarcoglycan (SG), beta-SG, gamma-SG, and delta-SG genes cause autosomal recessive muscular dystrophies. Clinical presentation of sarcoglycanopathies is characterized by a slowly progressive proximal muscle weakness, leading to loss of ambulation during adolescence in most patients.

MalaCards based summary : Qualitative or Quantitative Defects of Sarcoglycan, also known as sarcoglycanopathies, is related to muscular dystrophy, limb-girdle, autosomal recessive 6 and muscular dystrophy, limb-girdle, autosomal recessive 5. An important gene associated with Qualitative or Quantitative Defects of Sarcoglycan is SGCA (Sarcoglycan Alpha). Affiliated tissues include skeletal muscle, heart and brain.

Related Diseases for Qualitative or Quantitative Defects of Sarcoglycan

Diseases in the Qualitative or Quantitative Defects of Sarcoglycan family:

Qualitative or Quantitative Defects of Gamma-Sarcoglycan Qualitative or Quantitative Defects of Delta-Sarcoglycan
Qualitative or Quantitative Defects of Alpha-Sarcoglycan Qualitative or Quantitative Defects of Beta-Sarcoglycan

Diseases related to Qualitative or Quantitative Defects of Sarcoglycan via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 6 11.7
2 muscular dystrophy, limb-girdle, autosomal recessive 5 11.7
3 muscular dystrophy, limb-girdle, autosomal recessive 3 11.7
4 autosomal recessive limb-girdle muscular dystrophy type 2f 11.6
5 muscular dystrophy, limb-girdle, autosomal recessive 4 11.5
6 autosomal recessive limb-girdle muscular dystrophy type 2c 11.5
7 autosomal recessive limb-girdle muscular dystrophy type 2d 11.5
8 muscular dystrophy, limb-girdle, autosomal recessive 2 11.5
9 muscular dystrophy 10.8
10 limb-girdle muscular dystrophy 10.7
11 myopathy 10.5
12 dystrophinopathies 10.4
13 muscular dystrophy, duchenne type 10.4
14 autosomal recessive limb-girdle muscular dystrophy 10.3
15 myoglobinuria 10.3
16 muscular dystrophy, becker type 10.2
17 dilated cardiomyopathy 10.2
18 myositis 10.1
19 muscular dystrophy, limb-girdle, autosomal recessive 1 10.1
20 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
21 qualitative or quantitative defects of dystrophin 10.1
22 atrial standstill 1 10.0
23 progressive familial heart block, type ia 10.0
24 bethlem myopathy 1 10.0
25 stroke, ischemic 10.0
26 myopathy, myofibrillar, 9, with early respiratory failure 10.0
27 progressive familial heart block, type ib 10.0
28 cardiomyopathy, dilated, 1l 10.0
29 muscular dystrophy, congenital, lmna-related 10.0
30 autosomal recessive disease 10.0
31 sleep apnea 10.0
32 respiratory failure 10.0
33 right bundle branch block 10.0
34 polyneuropathy 10.0
35 neuromuscular disease 10.0
36 cerebrovascular disease 10.0
37 muscular atrophy 10.0
38 hypereosinophilic syndrome 10.0
39 muscular dystrophy, duchenne and becker type 10.0
40 myotonic dystrophy 10.0
41 47,xyy 10.0
42 caveolinopathies 10.0
43 myotonia atrophica 10.0
44 familial isolated dilated cardiomyopathy 10.0

Graphical network of the top 20 diseases related to Qualitative or Quantitative Defects of Sarcoglycan:



Diseases related to Qualitative or Quantitative Defects of Sarcoglycan

Symptoms & Phenotypes for Qualitative or Quantitative Defects of Sarcoglycan

Drugs & Therapeutics for Qualitative or Quantitative Defects of Sarcoglycan

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase I/IIa Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Completed NCT01976091 Phase 1, Phase 2 scAAVrh74.tMCK.hSGCA
2 Phase I/IIa Gene Transfer Clinical Trial for LGMD2E (β-sarcoglycan Deficiency) Using scAAVrh74.MHCK7.hSGCB Administered by Systemic Perfusion Recruiting NCT03652259 Phase 1, Phase 2 scAAVrh74.MHCK7.hSGCB
3 Phase I Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1
4 Phase I Gene Transfer of rAAV1.tMCK.Human-alpha-sarcoglycan for Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1
5 Limb Girdle Muscular Dystrophy Type 2E Recruitment Study Recruiting NCT03492346
6 Natural History of Disease Progression in Individuals With Limb Girdle Muscular Dystrophy Type 2A and Type 2E Recruiting NCT03488784

Search NIH Clinical Center for Qualitative or Quantitative Defects of Sarcoglycan

Genetic Tests for Qualitative or Quantitative Defects of Sarcoglycan

Anatomical Context for Qualitative or Quantitative Defects of Sarcoglycan

MalaCards organs/tissues related to Qualitative or Quantitative Defects of Sarcoglycan:

41
Skeletal Muscle, Heart, Brain, Testes

Publications for Qualitative or Quantitative Defects of Sarcoglycan

Articles related to Qualitative or Quantitative Defects of Sarcoglycan:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy. 38
31268554 2019
2
An AAV-SGCG Dose-Response Study in a γ-Sarcoglycanopathy Mouse Model in the Context of Mechanical Stress. 38
31194043 2019
3
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients. 38
30764848 2019
4
Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis. 38
30218921 2018
5
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients. 38
30107846 2018
6
Effects of Home Mechanical Ventilation on Left Ventricular Function in Sarcoglycanopathies (Limb Girdle Muscular Dystrophies). 38
29793889 2018
7
MRI in sarcoglycanopathies: a large international cohort study. 38
28889091 2018
8
Different outcome of sarcoglycan missense mutation between human and mouse. 38
29360879 2018
9
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population. 38
28687063 2017
10
1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15-16 November 2016, Evry, France. 38
28521973 2017
11
Limb-girdle Muscular Dystrophies in India: A Review. 38
28615891 2017
12
Immunohistochemistry of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded skeletal muscle tissue: a promising tool for the diagnostic evaluation of common muscular dystrophies. 38
28219397 2017
13
Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene. 38
28883879 2017
14
Young girl presenting with exercise-induced myoglobinuria. 38
27297959 2016
15
A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping. 38
27276190 2016
16
A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D. 38
27093116 2016
17
Nonmechanical Roles of Dystrophin and Associated Proteins in Exercise, Neuromuscular Junctions, and Brains. 38
26230713 2015
18
Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy. 38
25873780 2014
19
Left ventricular function in alpha-sarcoglycanopathy and gamma-sarcoglycanopathy. 38
24464767 2014
20
Clinical aspects of patients with sarcoglycanopathies under steroids therapy. 38
25337728 2014
21
Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy. 38
23989969 2014
22
Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C. 38
24638197 2014
23
Concomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan gene. 38
25050186 2014
24
A systematic review of the diagnostic performance of orthopedic physical examination tests of the hip. 38
23987589 2013
25
[Heart involvement in sarcoglycanopathies]. 38
22405990 2012
26
Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. 38
23035061 2012
27
Leaky ryanodine receptors in β-sarcoglycan deficient mice: a potential common defect in muscular dystrophy. 38
22640601 2012
28
Immunodetection analysis of muscular dystrophies in Mexico. 38
22334167 2012
29
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 38
22095924 2012
30
Dysferlinopathy: spectrum of pathological changes in skeletal muscle tissue. 38
21623088 2011
31
Sarcoglycanopathies. 38
21496623 2011
32
Phenotypic and immunohistochemical characterization of sarcoglycanopathies. 38
22012042 2011
33
Sarcoglycanopathy: clinical and histochemical characteristics in 66 patients. 38
21045489 2010
34
Cardiac diseases in sarcoglycanopathies. 38
19157606 2010
35
Hemodynamic alterations in the coronary circulation of cardiomyopathic hamsters: age and Ang II-dependent mechanisms. 38
19944371 2009
36
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. 38
19781108 2009
37
Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. 38
19770540 2009
38
Muscular dystrophy with reduced beta-sarcoglycan in a cat. 38
19203767 2009
39
Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assay. 38
19056483 2009
40
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? 38
18996010 2008
41
Early pathophysiological alterations in experimental cardiomyopathy: the Syrian cardiomyopathic hamster. 38
19069355 2008
42
Steroid treatment causes deterioration of myocardial function in the {delta}-sarcoglycan-deficient mouse model for dilated cardiomyopathy. 38
18495669 2008
43
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method. 38
18683213 2008
44
Limb girdle muscular dystrophies in India. 38
18974554 2008
45
Revised spectrum of mutations in sarcoglycanopathies. 38
18285821 2008
46
Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan. 38
18535179 2008
47
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. 38
18641458 2008
48
Functional deficits in nNOSmu-deficient skeletal muscle: myopathy in nNOS knockout mice. 38
18852886 2008
49
Sarcoglycanopathies: a clinico-pathological study. 38
17558114 2007
50
Invited commentary. Sarcoglycanopathies: a clinico-pathological study. 38
17558106 2007

Variations for Qualitative or Quantitative Defects of Sarcoglycan

ClinVar genetic disease variations for Qualitative or Quantitative Defects of Sarcoglycan:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SGCA NM_000023.4(SGCA): c.229C> T (p.Arg77Cys) single nucleotide variant Pathogenic rs28933693 17:48245014-48245014 17:50167653-50167653
2 SGCA NM_000023.4(SGCA): c.850C> T (p.Arg284Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137852623 17:48247606-48247606 17:50170245-50170245
3 SGCA NM_000023.4(SGCA): c.739G> A (p.Val247Met) single nucleotide variant Pathogenic/Likely pathogenic rs143570936 17:48246607-48246607 17:50169246-50169246
4 SGCA NM_000023.4(SGCA): c.402C> G (p.Tyr134Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs780264754 17:48245751-48245751 17:50168390-50168390

Expression for Qualitative or Quantitative Defects of Sarcoglycan

Search GEO for disease gene expression data for Qualitative or Quantitative Defects of Sarcoglycan.

Pathways for Qualitative or Quantitative Defects of Sarcoglycan

GO Terms for Qualitative or Quantitative Defects of Sarcoglycan

Sources for Qualitative or Quantitative Defects of Sarcoglycan

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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