DYT11
MCID: DYS193
MIFTS: 56

Dystonia 11, Myoclonic (DYT11)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia 11, Myoclonic

MalaCards integrated aliases for Dystonia 11, Myoclonic:

Name: Dystonia 11, Myoclonic 58 76
Myoclonic Dystonia 58 12 77 25 54 76 30 56 6 15 74
Myoclonus-Dystonia Syndrome 58 54 26 76
Dyt11 58 54 26 76
Myoclonus-Dystonia 25 54 26
Dystonia 11 25 54 26
Myoclonus, Hereditary Essential 58 54
Hereditary Essential Myoclonus 25 54
Alcohol-Responsive Dystonia 54 76
Dystonia-11, Myoclonic 58 54
Dystonia, Alcohol-Responsive 58
Dystonia, Alcohol Responsive 54
Dystonia, Myoclonic, Type 11 41
Myoclonic Dystonia 11 12
Dystonia, Myoclonic 13
Dystonia-11 76
Myoclonus 45
Dyt-Sgce 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
dystonia 11, myoclonic:
Onset and clinical course incomplete penetrance juvenile onset
Inheritance autosomal dominant inheritance


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]...

Classifications:



Summaries for Dystonia 11, Myoclonic

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 36899Disease definitionMyoclonus-dystoniasyndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.EpidemiologyThe estimated prevalence of MDS in Europe is 1/500,000.Clinical descriptionDisease onset usually occurs in the first or second decade of life. Myoclonus is usually the presenting manifestation and is described as swift ''lightning-like'' jerks that can rarely appear at rest but that are usually triggered by complex motor tasks such as drawing and writing. These movements mainly affect the neck, arms and trunk but can also rarely be seen in the legs or the larynx. In two thirds of cases, dystonia is also experienced in the form of focal or cervical dystonia (see these terms), which may be only mild and does not exacerbate with time. Postural and other forms of tremor have sometimes been reported. MDS is often associated with depression, anxiety, panic attacks, obsessive-compulsive behavior and personality disorders and alcohol abuse. Isolated torticollis is seen in extremely rare cases.EtiologyThe only known causative gene of MDS is the epsilon-sarcoglycan (SGCE) gene (7q21.3), encoding a transmembrane protein that is part of the dystrophin-associated glycoprotein complex found in skeletal and cardiac muscle. The epsilon-sarcoglycan protein is also abundant in monoaminergic neurons, cerebellar Purkinje cells, the cortex and the hippocampus of the brain. In one family with MDS, linkage to chromosome 18p has been reported (named DYT15), but the gene has not yet been identified.Diagnostic methodsDiagnosis is based on the presence of characteristic clinical symptoms. Neuroimaging studies are normal. Genetic molecular testing of SGCE can confirm the diagnosis.Differential diagnosisDifferential diagnosis includes cervical dystonia, Dopa-responsive dystonia, Tourette syndrome, familial cortical myoclonus, Wilson disease, spinocerebellar ataxia type 3 (SCA3) and type 14 (SCA14), ataxia with vitamin E deficiency, genetic disorders with myoclonus as a major component (e.g. Unverricht-Lundborg disease, Lafora disease) (see these terms) and other secondary forms of dystonia.Antenatal diagnosisPrenatal testing is possible in families where a disease-causing mutation is identified.Genetic counselingMDS is inherited in an autosomal dominant manner. However, the SGCE gene is maternally imprinted, therefore in most cases (95%) a patient who inherits the mutation from their mother will remain healthy and only those that inherit the mutation from their father will develop MDS. De novo mutations also occur. Genetic counseling is recommended in those with a known mutation.Management and treatmentTreatment plans are individualized to a patient's presenting symptoms. Benzodiazepines (clonazepam) and antiepileptic drugs (valproate, levetiracetam) are effective in relieving myoclonus and tremor, but patients should be carefully monitored. Similarly, alcohol frequently improves symptoms temporarily, but its long term use is not recommended. Injections of botulinum toxin can relieve focal and cervical dystonia. If these treatments fail or are insufficient, bilateral deep brain stimulation (DBS) of the internal globus pallidum (Gpi) and the central intermediate nucleus (VIM) of the thalamus have shown positive results in providing lasting relief from both myoclonus and dystonia. Gpi stimulation is often sufficient in treating MDS, and may be favored over VIM stimulation, which generally has very little effect on dystonia. In a staged surgical procedure, quadruple stimulation (VIM and Gpi) may also be considered in selected cases.PrognosisPatients with MDS have normal life-expectancy, but quality of life can be severely affected.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dystonia 11, Myoclonic, also known as myoclonic dystonia, is related to spasmodic dysphonia and spasmodic dystonia, and has symptoms including tremor and torticollis. An important gene associated with Dystonia 11, Myoclonic is SGCE (Sarcoglycan Epsilon), and among its related pathways/superpathways are Neuroscience and Folate biosynthesis. The drugs Zonisamide and Calcium have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex, and related phenotypes are limb myoclonus and spinal myoclonus

Disease Ontology : 12 A dystonia 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 of second decade of life.

Genetics Home Reference : 26 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).

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 Dystonia 11, myoclonic: 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.

Wikipedia : 77 Myoclonic dystonia or Myoclonus dystonia syndrome is a rare movement disorder that induces spontaneous... more...

GeneReviews: NBK1414

Related Diseases for Dystonia 11, Myoclonic

Diseases in the Dystonia 11, Myoclonic family:

Dystonia 15, Myoclonic Dystonia 26, Myoclonic

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

(show top 50) (show all 491)
# Related Disease Score Top Affiliating Genes
1 spasmodic dysphonia 30.3 THAP1 TOR1A
2 spasmodic dystonia 30.2 CAMP THAP1 TOR1A
3 segawa syndrome, autosomal recessive 30.2 GCH1 TH
4 blepharospasm 29.9 CAMP GCH1 THAP1 TOR1A
5 aceruloplasminemia 29.7 ATP1A3 SLC2A1 TTPA
6 hereditary dystonia 29.5 DBH GCH1 TH
7 focal hand dystonia 29.4 CAMP THAP1 TOR1A VIM
8 dystonia 12 29.0 ATP1A3 CAMP GCH1 SGCE THAP1 TOR1A
9 dystonia, dopa-responsive 28.7 ATP1A3 GCH1 SGCE SLC2A1 TH THAP1
10 movement disease 28.7 ATP1A3 GCH1 NKX2-1 SGCE SLC2A1 TH
11 dystonia 28.4 VIM TOR1A THAP1 TH SLC2A1 SGCE
12 myoclonus, familial, 1 12.6
13 prickle1-related progressive myoclonus epilepsy with ataxia 12.4
14 myoclonus, intractable, neonatal 12.4
15 myoclonus, cerebellar ataxia, and deafness 12.4
16 progressive myoclonus epilepsy 12.4
17 progressive myoclonus epilepsy, lafora type 12.4
18 propriospinal myoclonus 12.3
19 myoclonus epilepsy 12.2
20 gosr2-related progressive myoclonus ataxia 12.2
21 epilepsy, progressive myoclonic, 4, with or without renal failure 12.2
22 myoclonus and ataxia 12.2
23 myoclonus, familial, 2 12.1
24 progressive encephalomyelitis with rigidity and myoclonus 12.1
25 unverricht-lundborg syndrome 12.1
26 branchial myoclonus with spastic paraparesis and cerebellar ataxia 12.1
27 early-onset progressive encephalopathy with migrant continuous myoclonus 12.1
28 myoclonic epilepsy associated with ragged-red fibers 12.0
29 neuraminidase deficiency 12.0
30 myoclonus epilepsy partial seizure 12.0
31 dystonia 26, myoclonic 12.0
32 spinal muscular atrophy with progressive myoclonic epilepsy 11.9
33 epilepsy, progressive myoclonic, 6 11.9
34 myoclonic epilepsy of lafora 11.9
35 dystonia 15, myoclonic 11.9
36 epilepsy, progressive myoclonic 7 11.8
37 periodic limb movement disorder 11.8
38 myoclonic cerebellar dyssynergia 11.8
39 epilepsy, idiopathic generalized 10 11.7
40 epileptic encephalopathy, early infantile, 6 11.7
41 epilepsy, progressive myoclonic, 8 11.7
42 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.7
43 epilepsy, progressive myoclonic, 9 11.7
44 myoclonic epilepsy of unverricht and lundborg 11.6
45 parasomnia, sleep bruxism type 11.5
46 epilepsy, progressive myoclonic, 1b 11.5
47 geniospasm 1 11.5
48 epilepsy, familial adult myoclonic, 2 11.5
49 immunodeficiency 23 11.5
50 galactosialidosis 11.4

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:

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

Symptoms via clinical synopsis from OMIM:

58
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
Head And Neck Neck:
torticollis

Neurologic Behavioral Psychiatric Manifestations:
anxiety
agoraphobia
depression
obsessive-compulsive disorder
panic attacks

Clinical features from OMIM:

159900

UMLS symptoms related to Dystonia 11, Myoclonic:


tremor, torticollis

MGI Mouse Phenotypes related to Dystonia 11, Myoclonic:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ATP1A3 DBH MAP1B NKX2-1 SGCE SLC2A1
2 mortality/aging MP:0010768 9.9 ATP1A3 CAMP DBH GCH1 MAP1B NKX2-1
3 nervous system MP:0003631 9.73 ATP1A3 DBH GCH1 MAP1B NKX2-1 SGCE
4 vision/eye MP:0005391 9.23 CAMP DBH MAP1B TH THAP1 TOR1A

Drugs & Therapeutics for Dystonia 11, Myoclonic

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
2
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
3 Calcium, Dietary Phase 3
4 Hormones Phase 3
5 calcium channel blockers Phase 3
6 Anticonvulsants Phase 3
7
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
8
Promethazine Approved, Investigational Phase 2 60-87-7 4927
9 Dihydroxyphenylalanine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy Trial of Zonisamide for Myoclonus Dystonia Completed NCT01806805 Phase 3 zonegran;placebo
2 Pilot Efficacy Study of T2000 in Myoclonus Dystonia Terminated NCT00506012 Phase 2 T2000
3 Abnormal Movements, Cerebellum and Sensorimotor : Oculomotor Study Completed NCT01495897 Not Applicable
4 Agency in Dystonia Recruiting NCT03351218 Not Applicable
5 The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Recruiting NCT01373424
6 Dystonia Genotype-Phenotype Correlation Recruiting NCT03428009

Search NIH Clinical Center for Dystonia 11, Myoclonic

Cochrane evidence based reviews: myoclonus

Genetic Tests for Dystonia 11, Myoclonic

Genetic tests related to Dystonia 11, Myoclonic:

# Genetic test Affiliating Genes
1 Myoclonic Dystonia 30 SGCE

Anatomical Context for Dystonia 11, Myoclonic

MalaCards organs/tissues related to Dystonia 11, Myoclonic:

42
Brain, Testes, Cortex, Thalamus, Thyroid, Spinal Cord, Prostate

Publications for Dystonia 11, Myoclonic

Articles related to Dystonia 11, Myoclonic:

(show all 41)
# Title Authors Year
1
Novel anoctamin-3 missense mutation responsible for early-onset myoclonic dystonia. ( 31053532 )
2019
2
Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation. ( 30642807 )
2019
3
Myoclonic dystonia (DYT11) responsive to insulin therapy: A case report. ( 28687723 )
2017
4
Sporadic and familial myoclonic dystonia: Report of three cases and review of literature. ( 27293342 )
2016
5
Deep brain stimulation in a dentatorubral-pallidoluyisian atrophy patient with myoclonic dystonia. ( 26186965 )
2015
6
EFNS guidelines on diagnosis and treatment of primary dystonias. ( 20482602 )
2011
7
Both thalamic and pallidal deep brain stimulation for myoclonic dystonia. ( 19929196 )
2010
8
Eating-induced facial myoclonic dystonia probably due to a putaminal lesion. ( 17290449 )
2007
9
Distal myoclonus and late onset in a large Dutch family with myoclonus-dystonia. ( 17101905 )
2006
10
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. ( 16240355 )
2005
11
Detection of herpesvirus-6A in a case of subacute cerebellitis and myoclonic dystonia. ( 15648060 )
2005
12
The epsilon-sarcoglycan gene in myoclonic syndromes. ( 15728306 )
2005
13
A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome. ( 12743249 )
2003
14
Hereditary myoclonus-dystonia associated with epilepsy. ( 12821748 )
2003
15
Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families. ( 12874409 )
2003
16
Inherited myoclonus-dystonia: how many causative genes and clinical phenotypes? ( 12391338 )
2002
17
Clinical findings of a myoclonus-dystonia family with two distinct mutations. ( 12391355 )
2002
18
Involvement of the medial pallidum in focal myoclonic dystonia: A clinical and neurophysiological case study. ( 11921122 )
2002
19
Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient. ( 12112220 )
2002
20
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. ( 12402271 )
2002
21
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. ( 11528394 )
2001
22
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. ( 11523564 )
2001
23
Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. ( 10716258 )
2000
24
D2 dopamine receptor gene in myoclonic dystonia and essential myoclonus. ( 10894231 )
2000
25
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. ( 10220438 )
1999
26
Essential myoclonus and myoclonic dystonia. ( 8990070 )
1997
27
Essential myoclonus and myoclonic dystonia. ( 8684380 )
1996
28
Linkage studies in alcohol-responsive myoclonic dystonia. ( 8813214 )
1996
29
Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging. ( 7565837 )
1995
30
Early onset dystonia decreasing with development. Case report of two children with familial myoclonic dystonia. ( 8250153 )
1993
31
Myoclonic dystonia. ( 1591746 )
1992
32
Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. ( 2259350 )
1990
33
Myoclonic dystonia: effective treatment by cervical cord stimulation. A case report. ( 2786648 )
1989
34
Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. ( 3400498 )
1988
35
Crural and axial myoclonic dystonia following meralgia paraesthetica. ( 3221904 )
1988
36
Paroxysmal myoclonic dystonia with vocalisations. ( 3469324 )
1987
37
Paroxysmal myoclonic dystonia with vocalisations: new entity or variant of preexisting syndromes? ( 3457101 )
1986
38
Nifedipine and myoclonic dystonia. ( 3940487 )
1986
39
Treatment of myoclonic dystonia with transcutaneous electrical nerve stimulation. ( 3873445 )
1985
40
Verapamil and myoclonic dystonia. ( 4003975 )
1985
41
Myoclonic dystonia. ( 6683367 )
1983

Variations for Dystonia 11, Myoclonic

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

76 (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 rs106479432
12 SGCE p.Trp270Arg VAR_066742
13 SGCE p.Cys271Tyr VAR_066743 rs372686312

ClinVar genetic disease variations for Dystonia 11, Myoclonic:

6 (show top 50) (show all 177)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGCE NM_003919.2(SGCE): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs121908489 GRCh37 Chromosome 7, 94257615: 94257615
2 SGCE NM_003919.2(SGCE): c.289C> T (p.Arg97Ter) single nucleotide variant Pathogenic rs121908489 GRCh38 Chromosome 7, 94628303: 94628303
3 SGCE NM_003919.2(SGCE): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs121908490 GRCh37 Chromosome 7, 94257600: 94257600
4 SGCE NM_003919.2(SGCE): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs121908490 GRCh38 Chromosome 7, 94628288: 94628288
5 SGCE SGCE, 1-BP DEL, 565A deletion Pathogenic
6 SGCE SGCE, 97-BP DEL deletion Pathogenic
7 SGCE NM_003919.2(SGCE): c.835_839delACAAA (p.Thr279Alafs) deletion Pathogenic rs863223283 GRCh38 Chromosome 7, 94600844: 94600848
8 SGCE NM_003919.2(SGCE): c.835_839delACAAA (p.Thr279Alafs) deletion Pathogenic rs863223283 GRCh37 Chromosome 7, 94230156: 94230160
9 SGCE NM_003919.2(SGCE): c.587T> G (p.Leu196Arg) single nucleotide variant Pathogenic rs121908491 GRCh37 Chromosome 7, 94248145: 94248145
10 SGCE NM_003919.2(SGCE): c.587T> G (p.Leu196Arg) single nucleotide variant Pathogenic rs121908491 GRCh38 Chromosome 7, 94618833: 94618833
11 SGCE NM_003919.2(SGCE): c.884dupT (p.Leu295Phefs) duplication Pathogenic rs863223284 GRCh37 Chromosome 7, 94230111: 94230111
12 SGCE NM_003919.2(SGCE): c.884dupT (p.Leu295Phefs) duplication Pathogenic rs863223284 GRCh38 Chromosome 7, 94600799: 94600799
13 SGCE SGCE, 1-BP DEL, 974C deletion Pathogenic
14 SGCE NM_003919.2(SGCE): c.1114C> T (p.Arg372Ter) single nucleotide variant Pathogenic rs121908492 GRCh37 Chromosome 7, 94228226: 94228226
15 SGCE NM_003919.2(SGCE): c.1114C> T (p.Arg372Ter) single nucleotide variant Pathogenic rs121908492 GRCh38 Chromosome 7, 94598914: 94598914
16 SGCE NM_003919.2(SGCE): c.464_662del199 deletion Pathogenic GRCh38 Chromosome 7, 94604254: 94619273
17 SGCE NM_003919.2(SGCE): c.464_662del199 deletion Pathogenic GRCh37 Chromosome 7, 94233566: 94248585
18 SGCE SGCE, 6,872-BP DEL, EX6DEL deletion Pathogenic
19 SGCE NM_003919.2(SGCE): c.619_620delAG (p.Arg207Glyfs) deletion Pathogenic rs863223285 GRCh38 Chromosome 7, 94618800: 94618801
20 SGCE NM_003919.2(SGCE): c.619_620delAG (p.Arg207Glyfs) deletion Pathogenic rs863223285 GRCh37 Chromosome 7, 94248112: 94248113
21 DRD2 NM_000795.3(DRD2): c.460G> A (p.Val154Ile) single nucleotide variant Uncertain significance rs104894220 GRCh37 Chromosome 11, 113287657: 113287657
22 DRD2 NM_000795.3(DRD2): c.460G> A (p.Val154Ile) single nucleotide variant Uncertain significance rs104894220 GRCh38 Chromosome 11, 113416935: 113416935
23 SGCE NM_003919.2(SGCE): c.606A> G (p.Thr202=) single nucleotide variant Conflicting interpretations of pathogenicity rs148979783 GRCh37 Chromosome 7, 94248126: 94248126
24 SGCE NM_003919.2(SGCE): c.606A> G (p.Thr202=) single nucleotide variant Conflicting interpretations of pathogenicity rs148979783 GRCh38 Chromosome 7, 94618814: 94618814
25 SGCE NM_003919.2(SGCE): c.709C> T (p.Arg237Ter) single nucleotide variant Pathogenic rs398123812 GRCh37 Chromosome 7, 94232718: 94232718
26 SGCE NM_003919.2(SGCE): c.709C> T (p.Arg237Ter) single nucleotide variant Pathogenic rs398123812 GRCh38 Chromosome 7, 94603406: 94603406
27 SGCE NM_003919.2(SGCE): c.391-3T> C single nucleotide variant Benign/Likely benign rs17166384 GRCh37 Chromosome 7, 94252712: 94252712
28 SGCE NM_003919.2(SGCE): c.391-3T> C single nucleotide variant Benign/Likely benign rs17166384 GRCh38 Chromosome 7, 94623400: 94623400
29 SGCE NM_003919.2(SGCE): c.771_772delAT (p.Cys258Terfs) deletion Pathogenic rs794727794 GRCh37 Chromosome 7, 94232655: 94232656
30 SGCE NM_003919.2(SGCE): c.771_772delAT (p.Cys258Terfs) deletion Pathogenic rs794727794 GRCh38 Chromosome 7, 94603343: 94603344
31 SGCE NM_003919.2(SGCE): c.1072C> T (p.Leu358=) single nucleotide variant Benign rs139062360 GRCh37 Chromosome 7, 94228268: 94228268
32 SGCE NM_003919.2(SGCE): c.1072C> T (p.Leu358=) single nucleotide variant Benign rs139062360 GRCh38 Chromosome 7, 94598956: 94598956
33 SGCE NM_003919.2(SGCE): c.391-43A> C single nucleotide variant Benign rs2272091 GRCh37 Chromosome 7, 94252752: 94252752
34 SGCE NM_003919.2(SGCE): c.391-43A> C single nucleotide variant Benign rs2272091 GRCh38 Chromosome 7, 94623440: 94623440
35 SGCE NM_003919.2(SGCE): c.369G> C (p.Val123=) single nucleotide variant Benign/Likely benign rs140913016 GRCh37 Chromosome 7, 94257535: 94257535
36 SGCE NM_003919.2(SGCE): c.369G> C (p.Val123=) single nucleotide variant Benign/Likely benign rs140913016 GRCh38 Chromosome 7, 94628223: 94628223
37 SGCE NM_003919.2(SGCE): c.769A> C (p.Thr257Pro) single nucleotide variant Benign rs116105264 GRCh37 Chromosome 7, 94232658: 94232658
38 SGCE NM_003919.2(SGCE): c.769A> C (p.Thr257Pro) single nucleotide variant Benign rs116105264 GRCh38 Chromosome 7, 94603346: 94603346
39 SGCE NM_003919.2(SGCE): c.55G> A (p.Gly19Ser) single nucleotide variant Uncertain significance rs767335346 GRCh37 Chromosome 7, 94285356: 94285356
40 SGCE NM_003919.2(SGCE): c.55G> A (p.Gly19Ser) single nucleotide variant Uncertain significance rs767335346 GRCh38 Chromosome 7, 94656044: 94656044
41 SGCE NM_003919.2(SGCE): c.436T> A (p.Leu146Met) single nucleotide variant Conflicting interpretations of pathogenicity rs752074255 GRCh37 Chromosome 7, 94252664: 94252664
42 SGCE NM_003919.2(SGCE): c.436T> A (p.Leu146Met) single nucleotide variant Conflicting interpretations of pathogenicity rs752074255 GRCh38 Chromosome 7, 94623352: 94623352
43 SGCE NM_003919.2(SGCE): c.*101A> G single nucleotide variant Likely benign rs193172306 GRCh38 Chromosome 7, 94585398: 94585398
44 SGCE NM_003919.2(SGCE): c.*101A> G single nucleotide variant Likely benign rs193172306 GRCh37 Chromosome 7, 94214710: 94214710
45 SGCE NM_003919.2(SGCE): c.1025G> A (p.Arg342Gln) single nucleotide variant Uncertain significance rs764696852 GRCh38 Chromosome 7, 94600658: 94600658
46 SGCE NM_003919.2(SGCE): c.1025G> A (p.Arg342Gln) single nucleotide variant Uncertain significance rs764696852 GRCh37 Chromosome 7, 94229970: 94229970
47 SGCE NM_003919.2(SGCE): c.-97G> A single nucleotide variant Likely benign rs529057223 GRCh38 Chromosome 7, 94656195: 94656195
48 SGCE NM_003919.2(SGCE): c.-97G> A single nucleotide variant Likely benign rs529057223 GRCh37 Chromosome 7, 94285507: 94285507
49 SGCE NM_003919.2(SGCE): c.712G> C (p.Glu238Gln) single nucleotide variant Uncertain significance rs200035109 GRCh38 Chromosome 7, 94603403: 94603403
50 SGCE NM_003919.2(SGCE): c.712G> C (p.Glu238Gln) single nucleotide variant Uncertain significance rs200035109 GRCh37 Chromosome 7, 94232715: 94232715

Copy number variations for Dystonia 11, Myoclonic from CNVD:

7
# CNVD ID Chromosom 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 SHFM1 Myoclonus-dystonia

Expression for Dystonia 11, Myoclonic

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

Pathways for Dystonia 11, Myoclonic

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

# Super pathways Score Top Affiliating Genes
1 11.79 DBH NKX2-1 TH TOR1A
2
Show member pathways
10.72 GCH1 TH
3 10.7 SLC2A1 TH VIM
4
Show member pathways
10.5 DBH TH

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 cytoplasm GO:0005737 9.73 DBH GCH1 JRK KCTD17 MAP1B MAP4
2 axon GO:0030424 9.46 ATP1A3 MAP1B MAP4 TH
3 neuron projection GO:0043005 9.02 GABRR3 MAP4 TH TOR1A VIM

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

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 9.43 DBH NKX2-1 TH
2 response to pain GO:0048265 9.32 DBH GCH1
3 dopamine biosynthetic process GO:0042416 9.16 GCH1 TH
4 catecholamine biosynthetic process GO:0042423 8.96 DBH TH
5 norepinephrine biosynthetic process GO:0042421 8.62 DBH TH

Sources for Dystonia 11, Myoclonic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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