DYT11
MCID: DYS193
MIFTS: 54

Dystonia 11, Myoclonic (DYT11)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Dystonia 11, Myoclonic

MalaCards integrated aliases for Dystonia 11, Myoclonic:

Name: Dystonia 11, Myoclonic 57 73
Myoclonic Dystonia 57 11 19 58 75 73 53 43 14 71
Myoclonus-Dystonia Syndrome 57 19 42 58 73
Myoclonic Dystonia 11 11 28 5 14
Dyt11 57 19 42 73
Alcohol-Responsive Dystonia 19 58 73
Myoclonus, Hereditary Essential 57 19
Hereditary Essential Myoclonus 19 58
Dystonia-11, Myoclonic 57 19
Myoclonus-Dystonia 19 42
Dystonia 11 19 42
Dystonia, Alcohol-Responsive 57
Dystonia, Alcohol Responsive 19
Dystonia, Myoclonic, Type 11 38
Dystonia, Myoclonic 12
Dystonia-11 73
Dyt-Sgce 19

Characteristics:


Inheritance:

Dystonia 11, Myoclonic: Autosomal dominant 57
Myoclonus-Dystonia Syndrome: Autosomal dominant 58

Prevelance:

Myoclonus-Dystonia Syndrome: 1-9/1000000 (Europe) 58

Age Of Onset:

Myoclonus-Dystonia Syndrome: Adolescent,Adult,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in childhood or adolescence (mean age of 6 years, range 1 to 18)
variable pattern of body involvement although symptoms may predominate in upper or lower body
symptoms are often responsive to alcohol
maternal imprinting of sgce results in reduced penetrance of the disorder when the mutation is inherited from the mother


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0090033 DOID:0090034
OMIM® 57 159900
OMIM Phenotypic Series 57 PS128100
ICD10 31 G24.1
MESH via Orphanet 44 C536096
ICD10 via Orphanet 32 G24.1
UMLS via Orphanet 72 C1834570
Orphanet 58 ORPHA36899
MedGen 40 C1834570
UMLS 71 C1834570

Summaries for Dystonia 11, Myoclonic

MedlinePlus Genetics: 42 Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis).The movement problems usually first appear in childhood or early adolescence with the development of myoclonus. In most cases, the movement problems remain stable throughout life. In some adults, myoclonus improves with alcohol consumption, which can lead to affected individuals self-medicating and developing alcohol use disorder.People with myoclonus-dystonia often develop psychological disorders such as depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD).

MalaCards based summary: Dystonia 11, Myoclonic, also known as myoclonic dystonia, is related to dystonia 26, myoclonic and sgce myoclonus-dystonia, and has symptoms including tremor and torticollis. An important gene associated with Dystonia 11, Myoclonic is SGCE (Sarcoglycan Epsilon). The drugs Zonisamide and Hormones have been mentioned in the context of this disorder. Affiliated tissues include globus pallidus, brain and thalamus, and related phenotypes are spinal myoclonus and limb myoclonus

Disease Ontology 11 Myoclonic dystonia: A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life.

Myoclonic dystonia 11: A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has material basis in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.

OMIM®: 57 Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal muscles. Dystonia, usually torticollis or writer's cramp, is observed in most patients, but occasionally can be the only symptom of the disorder. Onset of the disorder is usually in the first or second decade. Symptoms often respond to alcohol, and patients may also have psychiatric abnormalities (Valente et al., 2003; Schule et al., 2004). (159900) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable.

GARD: 19 Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

Orphanet: 58 Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

Wikipedia: 75 Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous... more...

Related Diseases for Dystonia 11, Myoclonic

Diseases in the Dystonia 11, Myoclonic family:

Dystonia 15, Myoclonic Dystonia 26, Myoclonic
Dystonia 34, Myoclonic

Diseases related to Dystonia 11, Myoclonic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 149)
# Related Disease Score Top Affiliating Genes
1 dystonia 26, myoclonic 32.7 SLC9A5 KCTD17 CCDC88C
2 sgce myoclonus-dystonia 32.2 SGCE CASD1
3 dystonia 6, torsion 30.4 THAP1 CIZ1
4 obsessive-compulsive disorder 30.4 TOR1A SGCE DRD2
5 dystonia 23 30.3 CIZ1 ANO3
6 torticollis 30.3 TOR1A DRD2 CIZ1
7 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 30.2 GCH1 ATP1A3
8 dystonia 12 30.1 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
9 dystonia 30.1 TOR1A THAP1 SGCE PNKD KCTD17 GNAL
10 dystonia 1, torsion, autosomal dominant 30.1 TOR1A THAP1 SGCE PNKD GNAL GCH1
11 dystonia, dopa-responsive 30.1 TOR1A THAP1 SGCE PNKD GCH1 ATP1A3
12 cervical dystonia 30.1 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
13 movement disease 30.0 TOR1A THAP1 SGCE PNKD GNAL GCH1
14 choreatic disease 29.8 TOR1A THAP1 SGCE PNKD GNAL DRD2
15 blepharospasm 29.7 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
16 segmental dystonia 29.5 TOR1A THAP1 SGCE PNKD KCTD17 GNAL
17 focal dystonia 29.3 TOR1A THAP1 SGCE PNKD GNAL GCH1
18 hemidystonia 29.3 TOR1A THAP1 SGCE PNKD GNAL GCH1
19 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 11.2
20 dystonia 34, myoclonic 11.0
21 myoclonus 10.5
22 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration 10.4
23 hereditary spastic paraplegia 35 10.4
24 cranio-facial dystonia 10.3 TOR1A THAP1
25 conversion disorder 10.3 THAP1 SGCE
26 hyperphenylalaninemia, bh4-deficient, b 10.2 SGCE GCH1
27 oculogyric crisis 10.2 GCH1 ATP1A3
28 ceroid lipofuscinosis, neuronal, 7 10.2 SLC9A5 KCTD17
29 dystonia 24 10.2 THAP1 GNAL ANO3
30 dyt1 early-onset isolated dystonia 10.2
31 early-onset isolated dystonia 10.2
32 hydrocephalus, congenital, 1 10.2 CCDC88C ATP1A3
33 torsion dystonia 4 10.2 GNAL CIZ1 ANO3
34 dystonia 27 10.2 GNAL CIZ1 ANO3
35 panic disorder 10.2
36 parkinson disease 20, early-onset 10.2 SLC9A5 KCTD17 CCDC88C
37 parkinsonism 10.1 TOR1A GCH1 DRD2 ATP1A3
38 leber optic atrophy and dystonia 10.1 THAP1 SGCE GCH1 DYTN
39 gilles de la tourette syndrome 10.1
40 anxiety 10.1
41 self-improving collodion baby 10.1
42 combined dystonia 10.1
43 episodic kinesigenic dyskinesia 2 10.1 SLC9A5 PNKD KCTD17 CCDC88C
44 neurodegeneration with brain iron accumulation 1 10.1 TOR1A THAP1
45 segawa syndrome, autosomal recessive 10.1
46 spinocerebellar ataxia 21 10.1
47 dystonia 15, myoclonic 10.1
48 hereditary ataxia 10.1
49 autosomal dominant cerebellar ataxia 10.1
50 rare movement disorder 10.1

Graphical network of the top 20 diseases related to Dystonia 11, Myoclonic:



Diseases related to Dystonia 11, Myoclonic

Symptoms & Phenotypes for Dystonia 11, Myoclonic

Human phenotypes related to Dystonia 11, Myoclonic:

58 30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spinal myoclonus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010531
2 limb myoclonus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0045084
3 depression 58 30 Frequent (33%) Frequent (79-30%)
HP:0000716
4 anxiety 58 30 Frequent (33%) Frequent (79-30%)
HP:0000739
5 obsessive-compulsive behavior 58 30 Frequent (33%) Frequent (79-30%)
HP:0000722
6 torticollis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000473
7 writer's cramp 58 30 Frequent (33%) Frequent (79-30%)
HP:0002356
8 panic attack 58 30 Frequent (33%) Frequent (79-30%)
HP:0025269
9 personality disorder 58 30 Frequent (33%) Frequent (79-30%)
HP:0012075
10 generalized hypotonia 30 Occasional (7.5%) HP:0001290
11 myoclonus 58 30 Very frequent (99-80%)
HP:0001336
12 tremor 30 HP:0001337
13 dystonia 58 Very frequent (99-80%)
14 agoraphobia 30 HP:0000756

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Behavioral Psychiatric Manifestations:
depression
anxiety
agoraphobia
obsessive-compulsive disorder
panic attacks

Head And Neck Neck:
torticollis

Neurologic Central Nervous System:
tremor
writer's cramp
myoclonus, axial (predominantly in upper limbs, occurs at rest and increases with activity or changes in posture)
subcortical origin of the myoclonus based on neurophysiologic studies
dystonia (may spontaneously remit in childhood or adolescence)
more

Clinical features from OMIM®:

159900 (Updated 08-Dec-2022)

UMLS symptoms related to Dystonia 11, Myoclonic:


tremor; torticollis

MGI Mouse Phenotypes related to Dystonia 11, Myoclonic:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 ANO3 ATP1A3 CAMTA1 CCDC88C DRD2 GCH1
2 behavior/neurological MP:0005386 9.44 ANO3 ATP1A3 CAMTA1 CIZ1 DRD2 DYTN

Drugs & Therapeutics for Dystonia 11, Myoclonic

Drugs for Dystonia 11, Myoclonic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
2 Hormones Phase 3
3 Calcium, Dietary Phase 3
4 Anticonvulsants Phase 3
5 calcium channel blockers Phase 3
6
Calcium Nutraceutical Phase 3 7440-70-2 271
7
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
8
Promethazine Approved, Investigational Phase 2 60-87-7 4927

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparative Study of the Efficiency of Zonisamide in Myoclonus Dystonia: A Monocentric , Randomized in Cross Over and Double Blind Study Versus Placebo Study Completed NCT01806805 Phase 3 zonegran;placebo
2 Phase II Efficacy and Safety of Taro Pharmaceuticals' Pro-Drug T2000 (1,3-Dimethoxymethyl-5,5-Diphenyl-Barbituric Acid) In Patients With Myoclonus Dystonia: An Open Label Sequential Dose Escalation Study Terminated NCT00506012 Phase 2 T2000
3 Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes Recruiting NCT03428009

Search NIH Clinical Center for Dystonia 11, Myoclonic

Cochrane evidence based reviews: myoclonic dystonia

Genetic Tests for Dystonia 11, Myoclonic

Genetic tests related to Dystonia 11, Myoclonic:

# Genetic test Affiliating Genes
1 Myoclonic Dystonia 11 28 SGCE

Anatomical Context for Dystonia 11, Myoclonic

Organs/tissues related to Dystonia 11, Myoclonic:

MalaCards : Globus Pallidus, Brain, Thalamus, Cortex, Pituitary, Heart

Publications for Dystonia 11, Myoclonic

Articles related to Dystonia 11, Myoclonic:

(show top 50) (show all 472)
# Title Authors PMID Year
1
Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. 62 57 5
17296918 2007
2
Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. 62 57 5
17101905 2006
3
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. 62 57 5
16240355 2005
4
The epsilon-sarcoglycan gene in myoclonic syndromes. 62 57 5
15728306 2005
5
Hereditary myoclonus-dystonia associated with epilepsy. 62 57 5
12821748 2003
6
A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome. 62 57 5
12743249 2003
7
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. 62 57 5
12402271 2002
8
Inherited myoclonus-dystonia: how many causative genes and clinical phenotypes? 62 57 5
12391338 2002
9
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. 62 57 5
11528394 2001
10
A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. 62 57 5
11022010 2000
11
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. 62 57 5
10220438 1999
12
Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. 53 62 57
16227522 2006
13
Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families. 53 62 5
12874409 2003
14
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. 53 62 57
12634861 2003
15
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. 53 62 57
12325078 2002
16
First report of pathogenic SGCE variants in Mexican patients with myoclonus dystonia: A five-year follow-up study. 62 5
32927286 2020
17
Speech-activated Myoclonus Mimicking Stuttering in a Patient with Myoclonus-Dystonia Syndrome. 62 5
27441098 2016
18
Treatment of myoclonus-dystonia syndrome with tetrabenazine. 62 5
25406829 2014
19
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. 62 5
24297365 2014
20
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. 62 5
23677909 2013
21
Effect of pallidal deep brain stimulation on psychiatric symptoms in myoclonus-dystonia due to ε-sarcoglycan mutations. 62 57
21825253 2011
22
Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot study. 62 57
21220679 2011
23
Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene. 62 5
19147379 2009
24
Responsiveness to levodopa in epsilon-sarcoglycan deletions. 62 5
19133653 2009
25
Myoclonus-dystonia due to maternal uniparental disomy. 62 57
18852357 2008
26
No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations. 62 5
18355305 2008
27
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. 62 5
18175340 2008
28
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. 62 57
18362280 2008
29
Myoclonus-dystonia: significance of large SGCE deletions. 62 5
18205193 2008
30
Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. 62 5
17853490 2008
31
Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. 62 57
17702041 2007
32
Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. 62 57
16534121 2006
33
Inherited myoclonus-dystonia and epilepsy: further evidence of an association? 62 5
15389977 2004
34
Genetic heterogeneity in ten families with myoclonus-dystonia. 62 57
15258227 2004
35
Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 62 57
14502674 2003
36
Phenotypic features of myoclonus-dystonia in three kindreds. 62 57
12391346 2002
37
Clinical findings of a myoclonus-dystonia family with two distinct mutations. 62 5
12391355 2002
38
The genetics of primary dystonias and related disorders. 62 57
11912106 2002
39
A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q. 62 57
11342690 2001
40
Inherited Myoclonus-dystonia syndrome: narrowing the 7q21-q31 locus in German families. 62 57
11198282 2001
41
D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus. 62 57
10894231 2000
42
Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. 62 57
10716258 2000
43
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. 62 57
10554001 1999
44
Linkage studies in alcohol-responsive myoclonic dystonia. 62 57
8813214 1996
45
Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. 62 57
2259350 1990
46
Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. 62 57
3400498 1988
47
Hereditary essential myoclonus. 62 57
6058147 1967
48
Hereditary essential myoclonus. 62 57
5925999 1966
49
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
50
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. 5
11523564 2001

Variations for Dystonia 11, Myoclonic

ClinVar genetic disease variations for Dystonia 11, Myoclonic:

5 (show top 50) (show all 351)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CASD1, SGCE NM_003919.3(SGCE):c.587T>G (p.Leu196Arg) SNV Pathogenic
5773 rs121908491 GRCh37: 7:94248145-94248145
GRCh38: 7:94618833-94618833
2 CASD1, SGCE NM_003919.3(SGCE):c.884dup (p.Leu295fs) DUP Pathogenic
5774 rs863223284 GRCh37: 7:94230110-94230111
GRCh38: 7:94600798-94600799
3 CASD1, SGCE NM_003919.3(SGCE):c.974del (p.Ser325fs) DEL Pathogenic
5775 rs1584531843 GRCh37: 7:94230021-94230021
GRCh38: 7:94600709-94600709
4 CASD1, SGCE NM_003919.3(SGCE):c.619_620del (p.Arg207fs) DEL Pathogenic
5779 rs863223285 GRCh37: 7:94248112-94248113
GRCh38: 7:94618800-94618801
5 CASD1, SGCE NM_003919.3(SGCE):c.783dup (p.Phe262fs) DUP Pathogenic
397531 rs1189469219 GRCh37: 7:94232643-94232644
GRCh38: 7:94603331-94603332
6 CASD1, SGCE NC_000007.14:g.(?_94598775)_(94603452_?)del DEL Pathogenic
464148 GRCh37:
GRCh38: 7:94598775-94603452
7 CASD1, SGCE NM_003919.3(SGCE):c.786del (p.Arg263fs) DEL Pathogenic
813325 rs1584546238 GRCh37: 7:94232641-94232641
GRCh38: 7:94603329-94603329
8 CASD1, SGCE NM_003919.3(SGCE):c.129_130delinsT (p.Lys43fs) INDEL Pathogenic
969300 rs1804394258 GRCh37: 7:94259133-94259134
GRCh38: 7:94629821-94629822
9 overlap with 15 genes GRCh37/hg19 7q21.3(chr7:93516132-95668733) CN LOSS Pathogenic
976777 GRCh37: 7:93516132-95668733
GRCh38:
10 CASD1, SGCE NM_003919.3(SGCE):c.1011del (p.Ala336_Tyr337insTer) DEL Pathogenic
1065199 GRCh37: 7:94229984-94229984
GRCh38: 7:94600672-94600672
11 SGCE NC_000007.13:g.(?_94252627)_(94252719_?)del DEL Pathogenic
1073071 GRCh37: 7:94252627-94252719
GRCh38:
12 CASD1, SGCE NM_003919.3(SGCE):c.802dup (p.Ile268fs) DUP Pathogenic
1325061 GRCh37: 7:94232624-94232625
GRCh38: 7:94603312-94603313
13 SGCE NM_003919.3(SGCE):c.37_38insA (p.Cys13Ter) INSERT Pathogenic
1323587 GRCh37: 7:94285373-94285374
GRCh38: 7:94656061-94656062
14 CASD1, SGCE NM_003919.3(SGCE):c.1296dup (p.Gly433fs) DUP Pathogenic
1323588 GRCh37: 7:94218001-94218002
GRCh38: 7:94588689-94588690
15 CASD1, SGCE NM_003919.3(SGCE):c.662G>T (p.Gly221Val) SNV Pathogenic
1172914 GRCh37: 7:94248070-94248070
GRCh38: 7:94618758-94618758
16 CASD1, SGCE NM_003919.3(SGCE):c.521del (p.Met174fs) DEL Pathogenic
1329499 GRCh37: 7:94248211-94248211
GRCh38: 7:94618899-94618899
17 CASD1, SGCE NM_003919.3(SGCE):c.663del (p.Val222fs) DEL Pathogenic
586565 rs1562812370 GRCh37: 7:94232764-94232764
GRCh38: 7:94603452-94603452
18 CASD1, SGCE NM_003919.3(SGCE):c.153C>G (p.Tyr51Ter) SNV Pathogenic
1404117 GRCh37: 7:94259110-94259110
GRCh38: 7:94629798-94629798
19 CASD1, SGCE NM_003919.3(SGCE):c.193_194del (p.Glu65fs) MICROSAT Pathogenic
1420908 GRCh37: 7:94259069-94259070
GRCh38: 7:94629757-94629758
20 CASD1, SGCE NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter) SNV Pathogenic
448357 rs1554355416 GRCh37: 7:94252698-94252698
GRCh38: 7:94623386-94623386
21 CASD1, SGCE NM_003919.3(SGCE):c.793C>T (p.Gln265Ter) SNV Pathogenic
802337 rs1584546131 GRCh37: 7:94232634-94232634
GRCh38: 7:94603322-94603322
22 CASD1, SGCE NM_003919.3(SGCE):c.571_572del (p.Trp191fs) MICROSAT Pathogenic
1454373 GRCh37: 7:94248160-94248161
GRCh38: 7:94618848-94618849
23 CASD1, SGCE NM_003919.3(SGCE):c.191_197dup (p.Tyr66Ter) DUP Pathogenic
1456373 GRCh37: 7:94259065-94259066
GRCh38: 7:94629753-94629754
24 CASD1, SGCE NM_003919.3(SGCE):c.658del (p.Glu220fs) DEL Pathogenic
1459921 GRCh37: 7:94248074-94248074
GRCh38: 7:94618762-94618762
25 SGCE NC_000007.13:g.(?_94248050)_(94252729_?)del DEL Pathogenic
1458211 GRCh37: 7:94248050-94252729
GRCh38:
26 SGCE NC_000007.13:g.(?_94285282)_(94285410_?)del DEL Pathogenic
1459683 GRCh37: 7:94285282-94285410
GRCh38:
27 CASD1, SGCE NM_003919.3(SGCE):c.942C>G (p.Tyr314Ter) SNV Pathogenic
1429282 GRCh37: 7:94230053-94230053
GRCh38: 7:94600741-94600741
28 SGCE NC_000007.13:g.(?_94248050)_(94248288_?)del DEL Pathogenic
1459085 GRCh37: 7:94248050-94248288
GRCh38:
29 SGCE NC_000007.13:g.(?_94257494)_(94285410_?)del DEL Pathogenic
1459087 GRCh37: 7:94257494-94285410
GRCh38:
30 SGCE NC_000007.13:g.(?_94232582)_(94232784_?)del DEL Pathogenic
1459378 GRCh37: 7:94232582-94232784
GRCh38:
31 CASD1, SGCE NM_003919.3(SGCE):c.895G>T (p.Gly299Ter) SNV Pathogenic
1446049 GRCh37: 7:94230100-94230100
GRCh38: 7:94600788-94600788
32 CASD1, SGCE NM_003919.3(SGCE):c.903C>A (p.Tyr301Ter) SNV Pathogenic
1451374 GRCh37: 7:94230092-94230092
GRCh38: 7:94600780-94600780
33 CASD1, SGCE NM_003919.3(SGCE):c.704_707del (p.Cys235fs) DEL Pathogenic
1442309 GRCh37: 7:94232720-94232723
GRCh38: 7:94603408-94603411
34 CASD1, SGCE NM_003919.3(SGCE):c.813C>A (p.Cys271Ter) SNV Pathogenic
1451845 GRCh37: 7:94232614-94232614
GRCh38: 7:94603302-94603302
35 CASD1, SGCE NM_003919.3(SGCE):c.904_908dup (p.Pro304fs) DUP Pathogenic
1449245 GRCh37: 7:94230086-94230087
GRCh38: 7:94600774-94600775
36 CASD1, SGCE NM_003919.3(SGCE):c.321del (p.Pro108fs) DEL Pathogenic
1351337 GRCh37: 7:94257583-94257583
GRCh38: 7:94628271-94628271
37 CASD1, SGCE NM_003919.3(SGCE):c.799del (p.Tyr267fs) DEL Pathogenic
847151 rs1799563986 GRCh37: 7:94232628-94232628
GRCh38: 7:94603316-94603316
38 CASD1, SGCE NM_003919.3(SGCE):c.130_134del (p.Val44fs) DEL Pathogenic
1069961 GRCh37: 7:94259129-94259133
GRCh38: 7:94629817-94629821
39 CASD1, SGCE NM_003919.3(SGCE):c.495_498del (p.Phe165fs) DEL Pathogenic
1452174 GRCh37: 7:94248234-94248237
GRCh38: 7:94618922-94618925
40 CASD1, SGCE NM_003919.3(SGCE):c.619del (p.Arg207fs) DEL Pathogenic
448358 rs1554352819 GRCh37: 7:94248113-94248113
GRCh38: 7:94618801-94618801
41 CASD1, SGCE NM_003919.3(SGCE):c.300del (p.Trp100fs) DEL Pathogenic
532785 rs1554358727 GRCh37: 7:94257604-94257604
GRCh38: 7:94628292-94628292
42 CASD1, SGCE NM_003919.3(SGCE):c.559del (p.Ala186_Val187insTer) DEL Pathogenic
532792 rs1554352906 GRCh37: 7:94248173-94248173
GRCh38: 7:94618861-94618861
43 CASD1, SGCE NM_003919.3(SGCE):c.551T>C (p.Leu184Pro) SNV Pathogenic
420156 rs1064794321 GRCh37: 7:94248181-94248181
GRCh38: 7:94618869-94618869
44 CASD1, SGCE NM_003919.3(SGCE):c.610del (p.Ala204fs) DEL Pathogenic
654222 rs1584637958 GRCh37: 7:94248122-94248122
GRCh38: 7:94618810-94618810
45 CASD1, SGCE NM_003919.3(SGCE):c.942C>A (p.Tyr314Ter) SNV Pathogenic
1069378 GRCh37: 7:94230053-94230053
GRCh38: 7:94600741-94600741
46 SGCE NM_003919.3(SGCE):c.109+1G>A SNV Pathogenic
1069379 GRCh37: 7:94285301-94285301
GRCh38: 7:94655989-94655989
47 CASD1, SGCE NM_003919.3(SGCE):c.723_724dup (p.Pro242fs) DUP Pathogenic
1686179 GRCh37: 7:94232702-94232703
GRCh38: 7:94603390-94603391
48 CASD1, SGCE NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter) SNV Pathogenic
5776 rs121908492 GRCh37: 7:94228226-94228226
GRCh38: 7:94598914-94598914
49 CASD1, SGCE NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer) DEL Pathogenic
198162 rs794727794 GRCh37: 7:94232655-94232656
GRCh38: 7:94603343-94603344
50 CASD1, SGCE NM_003919.3(SGCE):c.470del (p.Pro157fs) DEL Pathogenic
464157 rs1554353106 GRCh37: 7:94248262-94248262
GRCh38: 7:94618950-94618950

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 11, Myoclonic:

73 (show all 13)
# Symbol AA change Variation ID SNP ID
1 SGCE p.Leu196Arg VAR_026750 rs121908491
2 SGCE p.Thr36Arg VAR_066732
3 SGCE p.His60Pro VAR_066733
4 SGCE p.His60Arg VAR_066734
5 SGCE p.Met92Thr VAR_066735
6 SGCE p.Trp100Gly VAR_066736
7 SGCE p.Gly112Arg VAR_066737
8 SGCE p.Tyr115Cys VAR_066738
9 SGCE p.Leu175Ser VAR_066739
10 SGCE p.Ser177Cys VAR_066740
11 SGCE p.Leu184Pro VAR_066741 rs1064794321
12 SGCE p.Trp270Arg VAR_066742
13 SGCE p.Cys271Tyr VAR_066743 rs372686312

Copy number variations for Dystonia 11, Myoclonic from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 229165 7 88000000 97900000 Deletion DLX5 Myoclonus-dystonia
2 229166 7 88000000 97900000 Deletion DLX6 Myoclonus-dystonia
3 229167 7 88000000 97900000 Deletion KRIT1 Myoclonus-dystonia
4 229168 7 88000000 97900000 Deletion SEM1 Myoclonus-dystonia

Expression for Dystonia 11, Myoclonic

Search GEO for disease gene expression data for Dystonia 11, Myoclonic.

Pathways for Dystonia 11, Myoclonic

GO Terms for Dystonia 11, Myoclonic

Cellular components related to Dystonia 11, Myoclonic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcoglycan complex GO:0016012 8.92 SGCZ SGCE

Biological processes related to Dystonia 11, Myoclonic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling posture GO:0050884 9.26 PNKD GCH1
2 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.92 TOR1A DRD2

Sources for Dystonia 11, Myoclonic

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....