DYT11
MCID: SGC002
MIFTS: 24

Sgce Myoclonus-Dystonia (DYT11)

Aliases & Classifications for Sgce Myoclonus-Dystonia

MalaCards integrated aliases for Sgce Myoclonus-Dystonia:

Name: Sgce Myoclonus-Dystonia 25
Dystonia 11 25 6
Dyt-Sgce 25 6
Dyt11 25

Characteristics:

GeneReviews:

25
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 11, myoclonic and myoclonus. An important gene associated with Sgce Myoclonus-Dystonia is CASD1 (CAS1 Domain Containing 1), and among its related pathways/superpathways is Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics. Affiliated tissues include thalamus, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 25)
# Related Disease Score Top Affiliating Genes
1 dystonia 11, myoclonic 30.9 SGCE DRD2 CASD1 BET1
2 myoclonus 30.5 SGCE DRD2
3 movement disease 30.1 SGCE DRD2
4 dystonia 29.8 SGCE DRD2 CASD1
5 gilles de la tourette syndrome 29.8 SGCE DRD2
6 obsessive-compulsive disorder 29.6 SGCE DRD2
7 dystonia 1, torsion, autosomal dominant 10.2
8 anxiety 10.1
9 dyskinetic cerebral palsy 10.1
10 segmental dystonia 10.1
11 cervical dystonia 10.1
12 alcohol use disorder 10.1
13 cerebral palsy 10.1
14 tic disorder 10.1
15 48,xyyy 10.1
16 spasticity 10.1
17 tremor 10.0
18 parkinson disease, late-onset 9.9
19 ataxia and polyneuropathy, adult-onset 9.9
20 dystonia 16 9.9
21 hereditary dystonia 9.9
22 opsoclonus-myoclonus syndrome 9.9
23 focal dystonia 9.8 SGCE DRD2
24 choreatic disease 9.8 SGCE DRD2
25 paranoid personality disorder 9.7 SGCE CASD1

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



Diseases related to Sgce Myoclonus-Dystonia

Symptoms & Phenotypes for Sgce Myoclonus-Dystonia

GenomeRNAi Phenotypes related to Sgce Myoclonus-Dystonia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 9.1 DRD2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-147 9.1 DRD2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.1 SGCE
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.1 DRD2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.1 DRD2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.1 DRD2

Drugs & Therapeutics for Sgce Myoclonus-Dystonia

Search Clinical Trials , 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:

40
Thalamus

Publications for Sgce Myoclonus-Dystonia

Articles related to Sgce Myoclonus-Dystonia:

(show top 50) (show all 98)
# Title Authors PMID Year
1
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. 6 25
16240355 2005
2
The epsilon-sarcoglycan gene in myoclonic syndromes. 6 25
15728306 2005
3
Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families. 6 25
12874409 2003
4
Hereditary myoclonus-dystonia associated with epilepsy. 6 25
12821748 2003
5
A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome. 6 25
12743249 2003
6
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. 6 25
12402271 2002
7
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. 6 25
11528394 2001
8
Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. 6
17101905 2006
9
Inherited myoclonus-dystonia: how many causative genes and clinical phenotypes? 6
12391338 2002
10
Clinical findings of a myoclonus-dystonia family with two distinct mutations. 6
12391355 2002
11
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. 6
11523564 2001
12
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. 6
10220438 1999
13
Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation. 25
31034681 2019
14
A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder. 25
30579817 2019
15
Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation. 25
30642807 2019
16
Thalamus Stimulation for Myoclonus Dystonia Syndrome: Five Cases and Long-Term Follow-up. 25
30419400 2019
17
Long-term GPi-DBS improves motor features in myoclonus-dystonia and enhances social adjustment. 25
30302819 2019
18
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. 25
30194818 2018
19
Treatment of Myoclonus-dystonia with carbamazepine. 25
29853296 2018
20
Myoclonus-dystonia: classification, phenomenology, pathogenesis, and treatment. 25
29952836 2018
21
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. 25
29436738 2018
22
TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia. 25
28966590 2017
23
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia. 25
28229249 2017
24
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 25
28087732 2017
25
Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome. 25
27890709 2017
26
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. 25
27668284 2016
27
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 25
27108799 2016
28
A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia. 25
27053715 2016
29
Timing, rates and spectra of human germline mutation. 25
26656846 2016
30
Psychiatric disorders, myoclonus dystonia and SGCE: an international study. 25
26783545 2016
31
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. 25
26537056 2015
32
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. 25
25983243 2015
33
Pallidal stimulation for myoclonus-dystonia: Ten years' outcome in two patients. 25
25787304 2015
34
RELN rare variants in myoclonus-dystonia. 25
25648840 2015
35
Treatment of myoclonus-dystonia syndrome with tetrabenazine. 25
25406829 2014
36
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype. 25
25209853 2014
37
The neurophysiological features of myoclonus-dystonia and differentiation from other dystonias. 25
24638021 2014
38
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. 25
24297365 2014
39
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. 25
23237735 2013
40
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. 25
23677909 2013
41
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. 25
22345219 2012
42
Familial 7q21.3 microdeletion involving epsilon-sarcoglycan causing myoclonus dystonia, cognitive impairment, and psychosis. 25
21425342 2011
43
SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? 25
21157498 2011
44
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. 25
20684011 2010
45
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. 25
19913450 2010
46
Excellent response to oral zolpidem in a sporadic case of the myoclonus dystonia syndrome. 25
19735067 2009
47
Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. 25
19066193 2009
48
Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history. 25
18571946 2009
49
Responsiveness to levodopa in epsilon-sarcoglycan deletions. 25
19133653 2009
50
Myoclonus-dystonia due to maternal uniparental disomy. 25
18852357 2008

Variations for Sgce Myoclonus-Dystonia

ClinVar genetic disease variations for Sgce Myoclonus-Dystonia:

6 (show top 50) (show all 170)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SGCE SGCE, 1-BP DEL, 565A Deletion Pathogenic 5770
2 SGCE SGCE, 97-BP DEL Deletion Pathogenic 5771
3 CASD1 NM_003919.3(SGCE):c.587T>G (p.Leu196Arg) SNV Pathogenic 5773 rs121908491 7:94248145-94248145 7:94618833-94618833
4 CASD1 NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter) SNV Pathogenic 5776 rs121908492 7:94228226-94228226 7:94598914-94598914
5 SGCE SGCE, 6,872-BP DEL, EX6DEL Deletion Pathogenic 5778
6 CASD1 NM_003919.3(SGCE):c.619_620del (p.Arg207fs) Deletion Pathogenic 5779 rs863223285 7:94248112-94248113 7:94618800-94618801
7 CASD1 NM_003919.3(SGCE):c.470del (p.Pro157fs) Deletion Pathogenic 464157 rs1554353106 7:94248262-94248262 7:94618950-94618950
8 CASD1 NM_003919.3(SGCE):c.551T>C (p.Leu184Pro) SNV Pathogenic 420156 rs1064794321 7:94248181-94248181 7:94618869-94618869
9 CASD1 NM_003919.3(SGCE):c.799del (p.Tyr267fs) Deletion Pathogenic 847151 7:94232628-94232628 7:94603316-94603316
10 CASD1 NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter) SNV Pathogenic 448357 rs1554355416 7:94252698-94252698 7:94623386-94623386
11 CASD1 NM_003919.3(SGCE):c.810G>A (p.Trp270Ter) SNV Pathogenic 624290 rs1562811414 7:94232617-94232617 7:94603305-94603305
12 CASD1 NM_003919.3(SGCE):c.610del (p.Ala204fs) Deletion Pathogenic 654222 rs1584637958 7:94248122-94248122 7:94618810-94618810
13 CASD1 NM_003919.3(SGCE):c.463+1G>A SNV Pathogenic 654935 rs1584663290 7:94252636-94252636 7:94623324-94623324
14 CASD1 NM_003919.3(SGCE):c.974del (p.Ser325fs) Deletion Pathogenic 5775 rs1584531843 7:94230021-94230021 7:94600709-94600709
15 CASD1 NM_003919.3(SGCE):c.440_443TAAT[1] (p.Ile148_Asn149insTer) Microsatellite Pathogenic 646818 rs1584663425 7:94252653-94252656 7:94623341-94623344
16 CASD1 NM_003919.3(SGCE):c.300del (p.Trp100fs) Deletion Pathogenic 532785 rs1554358727 7:94257604-94257604 7:94628292-94628292
17 CASD1 NM_003919.3(SGCE):c.733C>T (p.Gln245Ter) SNV Pathogenic 532786 rs1554345162 7:94232694-94232694 7:94603382-94603382
18 CASD1 NM_003919.3(SGCE):c.727C>T (p.Gln243Ter) SNV Pathogenic 532790 rs1554345170 7:94232700-94232700 7:94603388-94603388
19 CASD1 NM_003919.3(SGCE):c.795del (p.Gln265fs) Deletion Pathogenic 532791 rs1554345077 7:94232632-94232632 7:94603320-94603320
20 CASD1 NM_003919.3(SGCE):c.559del (p.Ala186_Val187insTer) Deletion Pathogenic 532792 rs1554352906 7:94248173-94248173 7:94618861-94618861
21 CASD1 NM_003919.3(SGCE):c.793C>T (p.Gln265Ter) SNV Pathogenic 802337 rs1584546131 7:94232634-94232634 7:94603322-94603322
22 CASD1 NM_003919.3(SGCE):c.841C>T (p.Gln281Ter) SNV Pathogenic 575722 rs1562806242 7:94230154-94230154 7:94600842-94600842
23 CASD1 NM_003919.3(SGCE):c.884dup (p.Leu295fs) Duplication Pathogenic 5774 rs863223284 7:94230110-94230111 7:94600798-94600799
24 CASD1 NM_003919.3(SGCE):c.783dup (p.Phe262fs) Duplication Pathogenic 397531 rs1189469219 7:94232643-94232644 7:94603331-94603332
25 CASD1 NM_003919.3(SGCE):c.129_130delinsT (p.Lys43fs) Indel Pathogenic 969300 7:94259133-94259134 7:94629821-94629822
26 CASD1 NM_003919.3(SGCE):c.619del (p.Arg207fs) Deletion Pathogenic 448358 rs1554352819 7:94248113-94248113 7:94618801-94618801
27 CASD1 NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr) SNV Pathogenic 807490 rs372686312 7:94232615-94232615 7:94603303-94603303
28 CASD1 NM_003919.3(SGCE):c.786del (p.Arg263fs) Deletion Pathogenic 813325 rs1584546238 7:94232641-94232641 7:94603329-94603329
29 CASD1 NM_003919.3(SGCE):c.304C>T (p.Arg102Ter) SNV Pathogenic 5769 rs121908490 7:94257600-94257600 7:94628288-94628288
30 CASD1 NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer) Deletion Pathogenic 198162 rs794727794 7:94232655-94232656 7:94603343-94603344
31 CASD1 NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) SNV Pathogenic 5768 rs121908489 7:94257615-94257615 7:94628303-94628303
32 CASD1 NM_003919.3(SGCE):c.835_839del (p.Thr279fs) Deletion Pathogenic 5772 rs863223283 7:94230156-94230160 7:94600844-94600848
33 CASD1 NM_003919.2(SGCE):c.464_662del Deletion Pathogenic 5777 7:94233566-94248585 7:94604254-94619273
34 CASD1 NC_000007.14:g.(?_94598775)_(94603452_?)del Deletion Pathogenic 464148 7:94598775-94603452
35 CASD1 NC_000007.14:g.(?_94395012)_(94656118_?)del Deletion Pathogenic 532801 7:94024324-94285430 7:94395012-94656118
36 CASD1 NC_000007.14:g.(?_94628182)_(94628379_?)del Deletion Pathogenic 583692 7:94257494-94257691 7:94628182-94628379
37 BET1 GRCh37/hg19 7q21.3(chr7:93516132-95668733) copy number loss Pathogenic 976777 7:93516132-95668733
38 CASD1 NM_003919.3(SGCE):c.709C>T (p.Arg237Ter) SNV Pathogenic 94384 rs398123812 7:94232718-94232718 7:94603406-94603406
39 CASD1 NM_003919.3(SGCE):c.549_552del (p.Phe183fs) Deletion Likely pathogenic 488594 rs1554352952 7:94248180-94248183 7:94618868-94618871
40 CASD1 NM_003919.3(SGCE):c.434_442dup (p.Asn145_Ile147dup) Duplication Likely pathogenic 623228 rs1562853011 7:94252657-94252658 7:94623345-94623346
41 CASD1 NM_003919.3(SGCE):c.742T>A (p.Cys248Ser) SNV Likely pathogenic 807491 rs1584546494 7:94232685-94232685 7:94603373-94603373
42 CASD1 NM_003919.3(SGCE):c.314A>G (p.Gln105Arg) SNV Likely pathogenic 807492 rs1584692239 7:94257590-94257590 7:94628278-94628278
43 CASD1 NM_003919.3(SGCE):c.170T>G (p.Leu57Arg) SNV Likely pathogenic 807493 rs1584700882 7:94259093-94259093 7:94629781-94629781
44 CASD1 NM_003919.3(SGCE):c.825+1_825+2del Deletion Likely pathogenic 464161 rs1554345052 7:94232600-94232601 7:94603288-94603289
45 CASD1 NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu) SNV Conflicting interpretations of pathogenicity 532793 rs17851923 7:94228144-94228144 7:94598832-94598832
46 CASD1 NM_003919.3(SGCE):c.470C>T (p.Pro157Leu) SNV Conflicting interpretations of pathogenicity 464156 rs768233445 7:94248262-94248262 7:94618950-94618950
47 CASD1 NM_003919.3(SGCE):c.391A>G (p.Ile131Val) SNV Conflicting interpretations of pathogenicity 374642 rs370609227 7:94252709-94252709 7:94623397-94623397
48 SGCE NM_003919.3(SGCE):c.55G>A (p.Gly19Ser) SNV Uncertain significance 285846 rs767335346 7:94285356-94285356 7:94656044-94656044
49 CASD1 NM_003919.3(SGCE):c.776A>T (p.Asp259Val) SNV Uncertain significance 930912 7:94232651-94232651 7:94603339-94603339
50 SGCE NM_003919.3(SGCE):c.19T>C (p.Trp7Arg) SNV Uncertain significance 912151 7:94285392-94285392 7:94656080-94656080

Expression for Sgce Myoclonus-Dystonia

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

Pathways for Sgce Myoclonus-Dystonia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.63 DRD2 BET1

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 Golgi membrane GO:0000139 9.33 DRD2 CASD1 BET1
2 integral component of Golgi membrane GO:0030173 8.96 CASD1 BET1
3 Golgi apparatus GO:0005794 8.92 SGCE DRD2 CASD1 BET1

Sources for Sgce Myoclonus-Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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