DYT11
MCID: SGC002
MIFTS: 17

Sgce Myoclonus-Dystonia (DYT11)

Aliases & Classifications for Sgce Myoclonus-Dystonia

MalaCards integrated aliases for Sgce Myoclonus-Dystonia:

Name: Sgce Myoclonus-Dystonia 24
Dystonia 11 24
Dyt-Sgce 24
Dyt11 24

Characteristics:

GeneReviews:

24
Penetrance Reduced penetrance on maternal transmission of the disease allele has been observed, suggesting that maternal genomic imprinting of sgce suppresses expression of the maternally inherited sgce allele [zimprich et al 2001]....

Summaries for Sgce Myoclonus-Dystonia

MalaCards based summary : Sgce Myoclonus-Dystonia, also known as dystonia 11, is related to dystonia and obsessive-compulsive disorder. An important gene associated with Sgce Myoclonus-Dystonia is SGCE (Sarcoglycan Epsilon). Affiliated tissues include brain, testes and thalamus.

GeneReviews: NBK1414

Related Diseases for Sgce Myoclonus-Dystonia

Diseases related to Sgce Myoclonus-Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 dystonia 29.9 SGCE DRD2
2 obsessive-compulsive disorder 29.7 SGCE DRD2
3 dystonia 11, myoclonic 12.0
4 myoclonus 10.5
5 dystonia 1, torsion, autosomal dominant 10.5
6 anxiety 10.3
7 segmental dystonia 10.3
8 cervical dystonia 10.3
9 alcohol use disorder 10.3
10 dystonia 6, torsion 10.3
11 dyt-thap1 10.3
12 parkinson disease, late-onset 10.1
13 ataxia and polyneuropathy, adult-onset 10.1
14 dystonia 16 10.1
15 hereditary dystonia 10.1
16 opsoclonus-myoclonus syndrome 10.1
17 tremor 10.1
18 focal dystonia 9.5 SGCE DRD2
19 movement disease 9.4 SGCE DRD2
20 gilles de la tourette syndrome 9.2 SGCE DRD2

Graphical network of the top 20 diseases related to Sgce Myoclonus-Dystonia:



Diseases related to Sgce Myoclonus-Dystonia

Symptoms & Phenotypes for Sgce Myoclonus-Dystonia

Drugs & Therapeutics for Sgce Myoclonus-Dystonia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Adaptation Sensorimotrice, Cervelet et Mouvements Anormaux: Projet d'étude Oculomotrice Completed NCT01495897

Search NIH Clinical Center for Sgce Myoclonus-Dystonia

Genetic Tests for Sgce Myoclonus-Dystonia

Anatomical Context for Sgce Myoclonus-Dystonia

MalaCards organs/tissues related to Sgce Myoclonus-Dystonia:

41
Brain, Testes, Thalamus

Publications for Sgce Myoclonus-Dystonia

Articles related to Sgce Myoclonus-Dystonia:

(show top 50) (show all 88)
# Title Authors PMID Year
1
Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation. 4
31034681 2019
2
A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder. 4
30579817 2019
3
Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation. 4
30642807 2019
4
Thalamus Stimulation for Myoclonus Dystonia Syndrome: Five Cases and Long-Term Follow-up. 4
30419400 2019
5
Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment. 4
30302819 2019
6
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. 4
30194818 2018
7
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. 4
29436738 2018
8
Treatment of Myoclonus-dystonia with carbamazepine. 4
29853296 2018
9
Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment. 4
29952836 2018
10
TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia. 4
28966590 2017
11
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. 4
28229249 2017
12
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 4
28087732 2017
13
Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome. 4
27890709 2017
14
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. 4
27668284 2016
15
A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia. 4
27053715 2016
16
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 4
27108799 2016
17
Timing, rates and spectra of human germline mutation. 4
26656846 2016
18
Psychiatric disorders, myoclonus dystonia and SGCE: an international study. 4
26783545 2016
19
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. 4
26537056 2015
20
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. 4
25983243 2015
21
Pallidal stimulation for myoclonus-dystonia: Ten years' outcome in two patients. 4
25787304 2015
22
RELN rare variants in myoclonus-dystonia. 4
25648840 2015
23
Treatment of myoclonus-dystonia syndrome with tetrabenazine. 4
25406829 2014
24
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype. 4
25209853 2014
25
The neurophysiological features of myoclonus-dystonia and differentiation from other dystonias. 4
24638021 2014
26
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. 4
24297365 2014
27
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. 4
23237735 2013
28
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. 4
23677909 2013
29
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. 4
22345219 2012
30
Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis. 4
21425342 2011
31
SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? 4
21157498 2011
32
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. 4
20684011 2010
33
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. 4
19913450 2010
34
Excellent response to oral zolpidem in a sporadic case of the myoclonus dystonia syndrome. 4
19735067 2009
35
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. 4
19066193 2009
36
Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history. 4
18571946 2009
37
Responsiveness to levodopa in epsilon-sarcoglycan deletions. 4
19133653 2009
38
Myoclonus-dystonia due to maternal uniparental disomy. 4
18852357 2008
39
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. 4
18362280 2008
40
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. 4
18175340 2008
41
Myoclonus-dystonia: significance of large SGCE deletions. 4
18205193 2008
42
Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene. 4
18651096 2008
43
Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. 4
17898012 2007
44
Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia. 4
17394244 2007
45
Refinement of the DYT15 locus in myoclonus dystonia. 4
17274032 2007
46
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. 4
16227522 2006
47
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. 4
16240355 2005
48
A pilot tolerability and efficacy trial of sodium oxybate in ethanol-responsive movement disorders. 4
15986420 2005
49
The epsilon-sarcoglycan gene in myoclonic syndromes. 4
15728306 2005
50
Inherited myoclonus-dystonia and epilepsy: further evidence of an association? 4
15389977 2004

Variations for Sgce Myoclonus-Dystonia

Expression for Sgce Myoclonus-Dystonia

Search GEO for disease gene expression data for Sgce Myoclonus-Dystonia.

Pathways for Sgce Myoclonus-Dystonia

GO Terms for Sgce Myoclonus-Dystonia

Cellular components related to Sgce Myoclonus-Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 8.62 SGCE DRD2

Sources for Sgce Myoclonus-Dystonia

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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