MCID: DYS193
MIFTS: 51

Dystonia 11, Myoclonic

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Dystonia 11, Myoclonic

MalaCards integrated aliases for Dystonia 11, Myoclonic:

Name: Dystonia 11, Myoclonic 57 75
Myoclonic Dystonia 57 12 76 24 53 75 29 55 6 15 73
Myoclonus-Dystonia Syndrome 57 53 25 75
Dyt11 57 53 25 75
Myoclonus-Dystonia 24 53 25
Dystonia 11 24 53 25
Myoclonus, Hereditary Essential 57 53
Hereditary Essential Myoclonus 24 53
Alcohol-Responsive Dystonia 53 75
Dystonia-11, Myoclonic 57 53
Dystonia, Alcohol-Responsive 57
Dystonia, Alcohol Responsive 53
Dystonia, Myoclonic, Type 11 40
Myoclonic Dystonia 11 12
Dystonia, Myoclonic 13
Dystonia-11 75
Myoclonus 44
Dyt-Sgce 53

Characteristics:

OMIM:

57
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:

32
dystonia 11, myoclonic:
Onset and clinical course incomplete penetrance juvenile onset
Inheritance autosomal dominant inheritance


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]...

Classifications:



Summaries for Dystonia 11, Myoclonic

NIH Rare Diseases : 53 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 dystonia and dystonia 26, myoclonic, and has symptoms including torticollis and tremor. An important gene associated with Dystonia 11, Myoclonic is SGCE (Sarcoglycan Epsilon), and among its related pathways/superpathways are Neuroscience and Alpha-synuclein signaling. The drugs Zonisamide and Anticonvulsants have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and cortex, and related phenotypes are torticollis and depressivity

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 : 25 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 : 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 all 45)
# Related Disease Score Top Affiliating Genes
1 dystonia 26.5 ATP1A3 DRD2 GCH1 NKX2-1 SGCE SLC2A1
2 dystonia 26, myoclonic 11.8
3 dystonia 15, myoclonic 11.7
4 torticollis 10.6 DRD2 TOR1A
5 spasmodic dysphonia 10.6 THAP1 TOR1A
6 dystonia 24 10.5 THAP1 TOR1A
7 myoclonus 10.4
8 thiamine metabolism dysfunction syndrome 2 10.4 GCH1 TOR1A
9 early-onset generalized dystonia 10.3 GCH1 THAP1 TOR1A
10 spasmodic dystonia 10.3 CAMP THAP1 TOR1A
11 multifocal dystonia 10.3 ATP1A3 CAMP TOR1A
12 gilles de la tourette syndrome 10.2 DBH DRD2 SGCE
13 dystonia 3, torsion, x-linked 10.1 ATP1A3 GCH1 THAP1
14 oppositional defiant disorder 10.0 DBH DRD2
15 oromandibular dystonia 10.0 CAMP GCH1 THAP1 TOR1A
16 segmental dystonia 10.0 CAMP GCH1 THAP1 TOR1A
17 blepharospasm 10.0 CAMP GCH1 THAP1 TOR1A
18 cranio-facial dystonia 10.0 CAMP GCH1 THAP1 TOR1A
19 hyperphenylalaninemia, bh4-deficient, b 10.0 GCH1 TH
20 lymphedema, hereditary, ii 10.0 CAMP GCH1 THAP1 TOR1A
21 cervical dystonia 10.0 CAMP GCH1 THAP1 TOR1A
22 papillary adenoma 10.0 NKX2-1 VIM
23 segawa syndrome, autosomal recessive 10.0 GCH1 TH
24 delusional disorder 10.0 DRD2 TH
25 oculogyric crisis 9.9 ATP1A3 GCH1 SLC2A1
26 opsoclonus-myoclonus syndrome 9.9
27 ameloblastic carcinoma 9.9 SLC2A1 VIM
28 extraskeletal ewing sarcoma 9.8 NKX2-1 VIM
29 melanotic neuroectodermal tumor 9.8 DBH VIM
30 aceruloplasminemia 9.8 ATP1A3 SLC2A1 TTPA
31 focal dystonia 9.8 CAMP DRD2 SGCE THAP1 TOR1A
32 migraine with or without aura 1 9.8 ATP1A3 DBH DRD2
33 perineurioma 9.7 SLC2A1 VIM
34 focal hand dystonia 9.6 CAMP THAP1 TOR1A VIM
35 tetrahydrobiopterin deficiency 9.5 GCH1 TH
36 early-onset schizophrenia 9.5 DBH DRD2 TH
37 multiple system atrophy 1 9.5 DBH DRD2 TH
38 hereditary dystonia 9.5 DBH GCH1 TH
39 hidradenocarcinoma 9.3 NKX2-1 VIM
40 dystonia 12 9.3 ATP1A3 CAMP GCH1 SGCE THAP1 TOR1A
41 parkinson disease, late-onset 8.9 DBH DRD2 GCH1 TH TOR1A
42 hemidystonia 8.6 ATP1A3 CAMP GCH1 SGCE THAP1 TOR1A
43 dystonia 1, torsion, autosomal dominant 8.5 CAMP GCH1 SGCE TH TOR1A VIM
44 dystonia, dopa-responsive 8.0 ATP1A3 GCH1 SGCE SLC2A1 TH THAP1
45 movement disease 7.7 ATP1A3 DRD2 GCH1 NKX2-1 SGCE SLC2A1

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



Diseases related to Dystonia 11, Myoclonic

Symptoms & Phenotypes for Dystonia 11, Myoclonic

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Dystonia 11, Myoclonic:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 torticollis 32 frequent (33%) HP:0000473
2 depressivity 32 frequent (33%) HP:0000716
3 obsessive-compulsive behavior 32 frequent (33%) HP:0000722
4 anxiety 32 frequent (33%) HP:0000739
5 agoraphobia 32 HP:0000756
6 generalized hypotonia 32 occasional (7.5%) HP:0001290
7 myoclonus 32 HP:0001336
8 tremor 32 HP:0001337
9 writer's cramp 32 frequent (33%) HP:0002356
10 spinal myoclonus 32 hallmark (90%) HP:0010531
11 personality disorder 32 frequent (33%) HP:0012075
12 panic attack 32 frequent (33%) HP:0025269
13 limb myoclonus 32 hallmark (90%) HP:0045084

UMLS symptoms related to Dystonia 11, Myoclonic:


torticollis, tremor

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.36 DRD2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.36 SLC2A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.36 SGCE
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.36 DRD2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.36 DRD2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.36 SGCE
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.36 DRD2 SGCE SLC2A1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.36 SLC2A1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.36 SGCE

MGI Mouse Phenotypes related to Dystonia 11, Myoclonic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 TH THAP1 TOR1A TTPA VIM ATP1A3
2 cellular MP:0005384 10.02 NKX2-1 SGCE SLC2A1 TH THAP1 TOR1A
3 homeostasis/metabolism MP:0005376 10 ATP1A3 DBH DRD2 GCH1 MAP1B NKX2-1
4 cardiovascular system MP:0005385 9.97 NKX2-1 SGCE TH TTPA VIM DBH
5 mortality/aging MP:0010768 9.93 ATP1A3 CAMP DBH DRD2 GCH1 MAP1B
6 nervous system MP:0003631 9.77 ATP1A3 DBH DRD2 GCH1 MAP1B NKX2-1
7 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 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
2 Anticonvulsants Phase 3
3 Antioxidants Phase 3
4 Protective Agents Phase 3
5
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
6
Promethazine Approved, Investigational Phase 2 60-87-7 4927
7 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 29 DRD2 SGCE

Anatomical Context for Dystonia 11, Myoclonic

MalaCards organs/tissues related to Dystonia 11, Myoclonic:

41
Testes, Brain, Cortex, Thalamus, Cerebellum

Publications for Dystonia 11, Myoclonic

Articles related to Dystonia 11, Myoclonic:

# Title Authors Year
1
Hereditary myoclonic dystonia, hereditary torsion dystonia and hereditary essential myoclonus: an area of confusion. ( 3400498 )
1988

Variations for Dystonia 11, Myoclonic

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

75 (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
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 139)
# 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 SGCE NM_003919.2(SGCE): c.709C> T (p.Arg237Ter) single nucleotide variant Pathogenic rs398123812 GRCh37 Chromosome 7, 94232718: 94232718
22 SGCE NM_003919.2(SGCE): c.709C> T (p.Arg237Ter) single nucleotide variant Pathogenic rs398123812 GRCh38 Chromosome 7, 94603406: 94603406
23 SGCE NM_003919.2(SGCE): c.391-3T> C single nucleotide variant Benign rs17166384 GRCh37 Chromosome 7, 94252712: 94252712
24 SGCE NM_003919.2(SGCE): c.391-3T> C single nucleotide variant Benign rs17166384 GRCh38 Chromosome 7, 94623400: 94623400
25 SGCE NM_003919.2(SGCE): c.771_772delAT (p.Cys258Terfs) deletion Pathogenic rs794727794 GRCh37 Chromosome 7, 94232655: 94232656
26 SGCE NM_003919.2(SGCE): c.771_772delAT (p.Cys258Terfs) deletion Pathogenic rs794727794 GRCh38 Chromosome 7, 94603343: 94603344
27 SGCE NM_003919.2(SGCE): c.1072C> T (p.Leu358=) single nucleotide variant Benign rs139062360 GRCh37 Chromosome 7, 94228268: 94228268
28 SGCE NM_003919.2(SGCE): c.1072C> T (p.Leu358=) single nucleotide variant Benign rs139062360 GRCh38 Chromosome 7, 94598956: 94598956
29 SGCE NM_003919.2(SGCE): c.391-43A> C single nucleotide variant Benign rs2272091 GRCh37 Chromosome 7, 94252752: 94252752
30 SGCE NM_003919.2(SGCE): c.391-43A> C single nucleotide variant Benign rs2272091 GRCh38 Chromosome 7, 94623440: 94623440
31 SGCE NM_003919.2(SGCE): c.369G> C (p.Val123=) single nucleotide variant Benign rs140913016 GRCh37 Chromosome 7, 94257535: 94257535
32 SGCE NM_003919.2(SGCE): c.369G> C (p.Val123=) single nucleotide variant Benign rs140913016 GRCh38 Chromosome 7, 94628223: 94628223
33 SGCE NM_003919.2(SGCE): c.769A> C (p.Thr257Pro) single nucleotide variant Benign rs116105264 GRCh37 Chromosome 7, 94232658: 94232658
34 SGCE NM_003919.2(SGCE): c.769A> C (p.Thr257Pro) single nucleotide variant Benign rs116105264 GRCh38 Chromosome 7, 94603346: 94603346
35 SGCE NM_003919.2(SGCE): c.436T> A (p.Leu146Met) single nucleotide variant Conflicting interpretations of pathogenicity rs752074255 GRCh37 Chromosome 7, 94252664: 94252664
36 SGCE NM_003919.2(SGCE): c.436T> A (p.Leu146Met) single nucleotide variant Conflicting interpretations of pathogenicity rs752074255 GRCh38 Chromosome 7, 94623352: 94623352
37 SGCE NM_003919.2(SGCE): c.*101A> G single nucleotide variant Likely benign rs193172306 GRCh37 Chromosome 7, 94214710: 94214710
38 SGCE NM_003919.2(SGCE): c.*101A> G single nucleotide variant Likely benign rs193172306 GRCh38 Chromosome 7, 94585398: 94585398
39 SGCE NM_003919.2(SGCE): c.1025G> A (p.Arg342Gln) single nucleotide variant Uncertain significance rs764696852 GRCh37 Chromosome 7, 94229970: 94229970
40 SGCE NM_003919.2(SGCE): c.1025G> A (p.Arg342Gln) single nucleotide variant Uncertain significance rs764696852 GRCh38 Chromosome 7, 94600658: 94600658
41 SGCE NM_003919.2(SGCE): c.-97G> A single nucleotide variant Likely benign rs529057223 GRCh37 Chromosome 7, 94285507: 94285507
42 SGCE NM_003919.2(SGCE): c.-97G> A single nucleotide variant Likely benign rs529057223 GRCh38 Chromosome 7, 94656195: 94656195
43 SGCE NM_003919.2(SGCE): c.556G> A (p.Ala186Thr) single nucleotide variant Uncertain significance rs746585235 GRCh38 Chromosome 7, 94618864: 94618864
44 SGCE NM_003919.2(SGCE): c.536T> C (p.Val179Ala) single nucleotide variant Uncertain significance rs886062521 GRCh37 Chromosome 7, 94248196: 94248196
45 SGCE NM_003919.2(SGCE): c.712G> C (p.Glu238Gln) single nucleotide variant Uncertain significance rs200035109 GRCh37 Chromosome 7, 94232715: 94232715
46 SGCE NM_003919.2(SGCE): c.712G> C (p.Glu238Gln) single nucleotide variant Uncertain significance rs200035109 GRCh38 Chromosome 7, 94603403: 94603403
47 SGCE NM_003919.2(SGCE): c.556G> A (p.Ala186Thr) single nucleotide variant Uncertain significance rs746585235 GRCh37 Chromosome 7, 94248176: 94248176
48 SGCE NM_003919.2(SGCE): c.536T> C (p.Val179Ala) single nucleotide variant Uncertain significance rs886062521 GRCh38 Chromosome 7, 94618884: 94618884
49 SGCE NM_003919.2(SGCE): c.*172T> C single nucleotide variant Likely benign rs112954947 GRCh37 Chromosome 7, 94214639: 94214639
50 SGCE NM_003919.2(SGCE): c.*172T> C single nucleotide variant Likely benign rs112954947 GRCh38 Chromosome 7, 94585327: 94585327

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 10.83 TH TOR1A
3
Show member pathways
10.72 GCH1 TH
4 10.7 SLC2A1 TH VIM
5
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 cell projection GO:0042995 9.72 CAMP MAP1B SGCE TOR1A VIM
2 dendrite GO:0030425 9.56 DRD2 MAP1B SGCE TH
3 neuron projection GO:0043005 9.46 MAP4 TH TOR1A VIM
4 cytoplasmic vesicle GO:0031410 9.35 DBH DRD2 GCH1 TH TOR1A
5 axon GO:0030424 8.92 ATP1A3 DRD2 MAP1B TH

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 associative learning GO:0008306 9.51 DBH DRD2
2 negative regulation of blood pressure GO:0045776 9.49 DRD2 GCH1
3 response to light stimulus GO:0009416 9.48 DRD2 TH
4 response to pain GO:0048265 9.46 DBH GCH1
5 synaptic transmission, dopaminergic GO:0001963 9.43 DRD2 TH
6 behavioral response to ethanol GO:0048149 9.4 DBH DRD2
7 dopamine biosynthetic process GO:0042416 9.37 GCH1 TH
8 catecholamine biosynthetic process GO:0042423 9.32 DBH TH
9 norepinephrine biosynthetic process GO:0042421 9.26 DBH TH
10 regulation of dopamine uptake involved in synaptic transmission GO:0051584 9.16 DRD2 TOR1A
11 response to amphetamine GO:0001975 9.13 DBH DRD2 TH
12 locomotory behavior GO:0007626 8.92 DBH DRD2 NKX2-1 TH

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

# Name GO ID Score Top Affiliating Genes
1 dopamine binding GO:0035240 8.62 DRD2 TH

Sources for Dystonia 11, Myoclonic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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