DYT9
MCID: DYS119
MIFTS: 49

Dystonia 9 (DYT9)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dystonia 9

MalaCards integrated aliases for Dystonia 9:

Name: Dystonia 9 56 12 73 29 6 15
Choreoathetosis/spasticity, Episodic 56 13 71
Dyt9 56 58 73
Episodic Choreoathetosis/spasticity 58 73
Paroxysmal Dystonic Choreathetosis with Episodic Ataxia and Spasticity 58
Choreoathetosis, Kinesigenic, with Episodic Ataxia and Spasticity 56
Kinesigenic Choreoathetosis with Episodic Ataxia and Spasticity 73
Cse Choreoathetosis, Paroxysmal, with Episodic Ataxia 56
Paroxysmal Choreoathetosis with Episodic Ataxia 73
Muscle Spasticity 43
Dystonia, Type 9 39
Dystonia-9 73
Cse 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable features
onset at 2 to 15 years
symptoms precipitated by stress, exertion, fatigue, alcohol
some patients respond to acetazolamide


HPO:

31
dystonia 9:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090044
OMIM 56 601042
OMIM Phenotypic Series 56 PS128100
ICD10 32 G24.8
ICD10 via Orphanet 33 G24.8
UMLS via Orphanet 72 C1832855
Orphanet 58 ORPHA53583
MedGen 41 C1832855
UMLS 71 C1832855

Summaries for Dystonia 9

Disease Ontology : 12 A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has material basis in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.

MalaCards based summary : Dystonia 9, also known as choreoathetosis/spasticity, episodic, is related to paroxysmal exertion-induced dyskinesia and glut1 deficiency syndrome 1, and has symptoms including headache, involuntary movements and muscle spasticity. An important gene associated with Dystonia 9 is SLC2A1 (Solute Carrier Family 2 Member 1). The drugs Norepinephrine and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and bone, and related phenotypes are paroxysmal dyskinesia and intellectual disability

OMIM : 56 Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011). (601042)

UniProtKB/Swiss-Prot : 73 Dystonia 9: An autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most patients show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia.

Related Diseases for Dystonia 9

Diseases in the Dystonia family:

Dystonia 12 Dystonia 9
Dystonia, Juvenile-Onset Dystonia 16
Dystonia 21 Dystonia 23
Dystonia 24 Dystonia 25
Dystonia 27 Hereditary Dystonia
Kmt2b-Related Dystonia Rare Dystonia

Diseases related to Dystonia 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 138)
# Related Disease Score Top Affiliating Genes
1 paroxysmal exertion-induced dyskinesia 11.7
2 glut1 deficiency syndrome 1 11.2
3 glucose transporter type 1 deficiency syndrome 11.2
4 neurodegeneration with brain iron accumulation 1 11.1
5 amyotrophic lateral sclerosis 1 10.9
6 argininemia 10.9
7 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.9
8 pseudo-torch syndrome 1 10.9
9 spastic ataxia, charlevoix-saguenay type 10.9
10 purine nucleoside phosphorylase deficiency 10.9
11 combined oxidative phosphorylation deficiency 12 10.9
12 aicardi-goutieres syndrome 10.9
13 neurodegeneration with brain iron accumulation 10.9
14 free sialic acid storage disorders 10.9
15 bain type of x-linked syndromic intellectual disability 10.9
16 x-linked intellectual disability, schimke type 10.9
17 cerebral palsy 10.4
18 pain agnosia 10.3
19 pre-eclampsia 10.3
20 spinal cord injury 10.2
21 homocysteinemia 10.2
22 encephalopathy 10.2
23 glut1 deficiency syndrome 2 10.1
24 hereditary spastic paraplegia 10.1
25 adcy5-related dyskinesia 10.1
26 spastic paraparesis 10.1
27 paroxysmal choreoathetosis 10.1
28 spasticity 10.1
29 pulmonary disease, chronic obstructive 10.1
30 eclampsia 10.1
31 substance abuse 10.1
32 traumatic brain injury 10.1
33 spastic cerebral palsy 10.1
34 hypertonia 10.1
35 atherosclerosis susceptibility 10.1
36 coronary heart disease 1 10.1
37 impotence 10.1
38 hyperglycemia 10.1
39 b-cell lymphoma 10.1
40 hypoglycemia 10.1
41 brain injury 10.0
42 early onset absence epilepsy 10.0 SLC2A1 GJA8
43 childhood electroclinical syndrome 9.9 SLC2A1 GJA8
44 bladder cancer 9.9
45 seizures, benign familial neonatal, 1 9.9
46 hair whorl 9.9
47 hypercholesterolemia, familial, 1 9.9
48 papillomatosis, confluent and reticulated 9.9
49 cystathioninuria 9.9
50 retinitis pigmentosa 9.9

Graphical network of the top 20 diseases related to Dystonia 9:



Diseases related to Dystonia 9

Symptoms & Phenotypes for Dystonia 9

Human phenotypes related to Dystonia 9:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 paroxysmal dyskinesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007166
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
4 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
5 diplopia 58 31 frequent (33%) Frequent (79-30%) HP:0000651
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
8 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
9 headache 58 31 frequent (33%) Frequent (79-30%) HP:0002315
10 choreoathetosis 58 31 frequent (33%) Frequent (79-30%) HP:0001266
11 spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001258
12 episodic ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002131
13 generalized tonic-clonic seizures 58 31 very rare (1%) Very rare (<4-1%) HP:0002069
14 dyskinesia 31 HP:0100660
15 cognitive impairment 31 HP:0100543
16 migraine 31 HP:0002076
17 morphological abnormality of the pyramidal tract 31 HP:0002062

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
hyperreflexia
dysarthria
cognitive impairment
dystonia
more
Neurologic Peripheral Nervous System:
paresthesias

Head And Neck Eyes:
diplopia

Clinical features from OMIM:

601042

UMLS symptoms related to Dystonia 9:


headache, involuntary movements, muscle spasticity, abnormal pyramidal signs

MGI Mouse Phenotypes related to Dystonia 9:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.02 CLCN6 GJA8 MYH1 SCN3A SLC2A1

Drugs & Therapeutics for Dystonia 9

Drugs for Dystonia 9 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 160)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Norepinephrine Approved Phase 4 51-41-2 439260
2
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
3
Baclofen Approved Phase 4 1134-47-0 2284
4 Psychotropic Drugs Phase 4
5 rimabotulinumtoxinB Phase 4
6 Venlafaxine Hydrochloride Phase 4
7 Antidepressive Agents Phase 4
8 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
9 Neurotransmitter Agents Phase 4
10 abobotulinumtoxinA Phase 4
11 Acetylcholine Release Inhibitors Phase 4
12 Cholinergic Agents Phase 4
13 Botulinum Toxins Phase 4
14 Botulinum Toxins, Type A Phase 4
15
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
16
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
17
4-Aminopyridine Approved Phase 3 504-24-5 1727
18
Phenylephrine Approved Phase 3 59-42-7 6041
19
Oxymetazoline Approved, Investigational Phase 3 1491-59-4 4636
20
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
21
Dronabinol Approved, Illicit Phase 3 1972-08-3 16078
22
Ethanol Approved Phase 3 64-17-5 702
23
Peppermint oil Approved, Investigational Phase 3 8006-90-4
24
Peppermint Approved Phase 3
25 Nabiximols Investigational Phase 3 56575-23-6
26 Neuromuscular Agents Phase 3
27 incobotulinumtoxinA Phase 3
28 Trichostatin A Phase 3
29 Tranquilizing Agents Phase 3
30 GABA Agents Phase 3
31 Antimanic Agents Phase 3
32 Autonomic Agents Phase 3
33 Parasympatholytics Phase 3
34 GABA-B Receptor Agonists Phase 3
35 GABA Agonists Phase 3
36 Potassium Channel Blockers Phase 3
37 Antioxidants Phase 3
38 Protective Agents Phase 3
39 Free Radical Scavengers Phase 3
40 Vasodilator Agents Phase 3
41 Phosphodiesterase Inhibitors Phase 3
42 Radiation-Protective Agents Phase 3
43 Epidiolex Phase 3
44
Salicylic acid Approved, Investigational, Vet_approved Phase 2 69-72-7 338
45
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
46
Norgestimate Approved, Investigational Phase 2 35189-28-7 6540478
47
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
48
Moxifloxacin Approved, Investigational Phase 2 151096-09-2, 354812-41-2 152946
49
Polyestradiol phosphate Approved Phase 2 28014-46-2
50
Ethinyl Estradiol Approved Phase 2 57-63-6 5991

Interventional clinical trials:

(show top 50) (show all 373)
# Name Status NCT ID Phase Drugs
1 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
2 Phase III Study of Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
3 A Randomized Controlled Trial of Rectus Femoris Tenotomy Versus Botulinum Toxin A for Stiff Knee Gait After Stroke Unknown status NCT02114736 Phase 4 Botulinum Toxin injection in the rectus femoris muscle
4 Effects of Functional Electrical Stimulation on Gait in Children With Hemiplegic and Diplegic Cerebral Palsy Unknown status NCT02462018 Phase 4
5 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
6 A 24-week Prospective, Multicentre, Randomised, Double-blind, Placebo Controlled Study of Dysport® Injection for the Treatment of Upper Limb Spasticity in Early Stroke. Completed NCT00234546 Phase 4 Placebo
7 Multi-center, Single Arm, Open-label, Phase IV Clinical Trial to Evaluate the Safety and Efficacy of MEDITOXIN® in Children With Cerebral Palsy Completed NCT01256021 Phase 4 Botulinum Toxin Type A
8 Impact of Injection Techniques on the Effectiveness of Botulinum Toxin for the Treatment of Post Stroke Upper Limb Spasticity Completed NCT02757404 Phase 4 Ultrasonography guidance injection of Meditoxin®.;Electrical stimulation guidance injection of Meditoxin®.;Manual needle placement injection of Meditoxin®.
9 A Prospective, Multi-center, Single Arm, Open-label, Phase IV Clinical Trial to Evaluate the Efficacy and Safety of MEDITOXIN® in Treatment of Post Stroke Upper Limb Spasticity Completed NCT03908580 Phase 4 Meditoxin
10 An Efficacy Comparison of Botulinum Toxin A Injection Into Two Different Sites in Gastrocnemius Muscle for the Treatment of Spastic Patients, Randomized Controlled Trial Completed NCT01278576 Phase 4 BOTOX-A®
11 Hand Rehabilitation Using Botulinum Toxin and Functional Electrical Stimulation Among Stroke Patients With Limitation of Finger Extension Due to Spasticity- Pilot Study Completed NCT03549975 Phase 4 Botulinum Toxin Type A 100 unit/Vial (Product)
12 A Prospective Phase IV, Multicentre, Placebo-controlled Study to Demonstrate Changes in the Quality of Life Following DYSPORT Intramuscular Injection in the Treatment of Upper Limb Spasticity in Adult Post-Stroke Patients Completed NCT00216411 Phase 4 Placebo
13 Asian Multicentre, Double Blind, Randomised, Placebo Controlled Pilot Study, to Assess the Impact of Dysport® Intramuscular Injections When Administered Within the First 12 Weeks After Stroke on the Time to Spasticity Progression in Adult Subjects With Upper Limb (UL) Spasticity. Completed NCT02321436 Phase 4 Placebo
14 BOTOX® Economic Spasticity Trial (BEST) Completed NCT00549783 Phase 4
15 An International, Multicentre, Prospective, Single-Arm Study to Assess the Effect on Voluntary Movements of AbobotulinumtoxinA 1500 U Administered in Both Upper and Lower Limbs in Conjunction With a Guided Self-Rehabilitation Contract in Adult Subjects With Spastic Hemiparesis Completed NCT02969356 Phase 4
16 A Multicentre, Double-blind, Randomised, Parallel Group, Placebo-controlled Study of the Effect of Long-term Treatment With Sativex on Cognitive Function and Mood of Patients With Spasticity Due to Multiple Sclerosis Completed NCT01964547 Phase 4 Sativex;Placebo
17 A Randomized Controlled Trial on Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy Completed NCT00432055 Phase 4 Botulinum toxin type A (Botox);placebo (saline)
18 Placebo-Controlled Trial of BOTOX® Versus Zanaflex® for the Treatment of Subjects With Post Stroke Upper Limb Spasticity Completed NCT00430196 Phase 4 BOTOX®;Zanaflex®
19 Myobloc Atrophy Study Completed NCT02052024 Phase 4 Botox;MYOBLOC
20 Effects of Repeated Use of Botulinum Neurotoxin Type A (BoNT/A) Free of Complexing Proteins in the Spastic Equinovarus Foot in Stroke Patients: A Randomized Clinical Trial Completed NCT03044080 Phase 4 IncobotulinumtoxinA;OnabotulinumtoxinA
21 Vanderbilt University Spasticity Management Program Evaluation Plan Completed NCT00179114 Phase 4 Botulinum Toxin Type A;Intrathecal baclofen administered by the Medtronic SyncroMed(TM) pump (ITB)
22 A Randomized, Controlled, Open-label, Parallel-group, Multi-center Study to Compare the Effect of Intrathecal Baclofen Therapy Versus Best Medical Treatment on Severe Spasticity in Post-stroke Patients After 6 Months Active Treatment Completed NCT01032239 Phase 4 intrathecal baclofen
23 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4 Botox
24 A Controlled Trial of Venlafaxine XR for Major Depression After Spinal Cord Injury: A Multi-site Study Completed NCT00592384 Phase 4 venlafaxine XR;placebo
25 A Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of Incobotulinumtoxin Type A for the Functional Improvement of Lower Extremity Spasticity in Patients With Multiple Sclerosis Completed NCT01968902 Phase 4
26 Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity Recruiting NCT02358005 Phase 4
27 Imaging of 3D Innervation Zone Distribution in Spastic Muscles From High-density Surface Recruiting NCT03302741 Phase 4 Botulinum neurotoxin (BTX)
28 Dose-response Relationship of Botullinum Toxin (DWP 450) for Finger Flexor Spasticity Recruiting NCT03517319 Phase 4 Normal Saline 0.9% 1.2 ml;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 15 U;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 30 U;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 50 U;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 70 U
29 Randomised Controlled Trial to Evaluate the Effect of a Self-rehabilitation Program in Addition to Usual Treatment for Spasticity (Repeated Botulinum Toxin Injections and Physiotherapy) on Impairment and Activity Limitation in Patients With Spastic Hemiparesis Following Stroke Recruiting NCT02944929 Phase 4
30 Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? Recruiting NCT02546999 Phase 4 botox;placebo
31 Study of the Effects on Motor Recovery of Early Post-stroke Spasticity Treatment: Double Blinded Comparison Between Botulinum Toxin and Baclofen. Recruiting NCT02462317 Phase 4 botulinum A toxin;Baclofen;Placebo toxin;placebo baclofen
32 The Movement of Botulinum Toxin Through the Lateral Gastrocnemius Muscle in Humans: An Expanded Examination Recruiting NCT03367429 Phase 4 Botox
33 Intrathecal (IT) Baclofen Drug Distribution Pilot Study Active, not recruiting NCT02903823 Phase 4 Baclofen bolus injection
34 Effect of Botulinum Toxin Injections on Motor and Functional Ability of Upper Limb in Adults at Earlier Phases of Spastic Hemiplegia After Stroke Unknown status NCT00276185 Phase 3 Time delay treatment of botulinum toxin
35 Comparison of Clinical Efficacy of Botulinum Neurotoxin Type A1 and A2 for Post-Stroke Lower Limb Spasticity: Phase 2/3 Unknown status NCT01910363 Phase 2, Phase 3 A2NTX;BOTOX
36 Open-Label, Exploratory Study of the Efficacy and Safety of Tamibarotene(AM80H) for HTLV-1 Associated Myelopathy/ Tropical Spastic Paraparesis (HAM/TSP) Unknown status NCT01343355 Phase 2, Phase 3 Tamibarotene
37 Comparison of Surface Landmark, Ultrasonography and Electric Stimulation Guidance for Botulinum Toxin Injections in Stroke Patients With Spasticity on Upper Extremities. Unknown status NCT02557737 Phase 3 Botulinum Toxin Type A
38 Central Effects of Botulinum Toxin: Neurophysiological Study in Stroke Patients With Spastic Lower Limb Unknown status NCT01829763 Phase 3 injection botox
39 Botulinim Toxin Type A Injections by Different Guidance in Stroke Patients With Spasticity on Lower Extremities Unknown status NCT02469948 Phase 3 Botulinum toxin type A
40 Efficacy and Safety of SPARC0921 in Subjects With Spasticity Completed NCT01457352 Phase 3 SPARC0921;Placebo0921
41 A Randomized, Double-blind, Active Drug Controlled, Multi-Center, Phase I/III Clinical Trial to Evaluate the Efficacy and Safety of CORETOX® in Treatment of Post Stroke Upper Limb Spasticity Completed NCT03289702 Phase 3 CORETOX®;BOTOX®
42 BOTOX® Treatment in Adult Patients With Post-Stroke Lower Limb Spasticity Completed NCT01575054 Phase 3 Normal Saline
43 Study Of Valproic Acid To Treat TSP/HAM Patients In Sao Paulo, Brazil Completed NCT00681980 Phase 3 Valproic acid;costicosteroids;valproid acid plus corticosteroids
44 BOTOX® Treatment in Pediatric Lower Limb Spasticity: Open-label Study Completed NCT01603641 Phase 3
45 BOTOX® Treatment in Pediatric Lower Limb Spasticity: Double-blind Study Completed NCT01603628 Phase 3 Normal Saline (Placebo)
46 BOTOX® Treatment in Pediatric Upper Limb Spasticity: Open-label Study Completed NCT01603615 Phase 3
47 BOTOX® Treatment in Pediatric Upper Limb Spasticity: Double-blind Study Completed NCT01603602 Phase 3 Normal Saline (Placebo)
48 Safety Study of SPARC1104 Completed NCT01797185 Phase 3 SPARC1104 modified dose regimen I;SPARC1104 modified dose regimen II;SPARC1104 modified dose regimen III
49 A Randomized, Double Blind, Multi-center, Active Drug Controlled, Phase III Clinical Trial to Compare the Safety and Efficacy of DWP450 Versus Botox® in Treatment of Post Stroke Upper Limb Spasticity Completed NCT01945684 Phase 3 Botulinum toxin type A
50 A Randomized, Double Blind, Multi-center, Active Drug Controlled, Phase III Clinical Trial to Compare the Safety and Efficacy of Botulax® Versus Botox® in Treatment of Post Stroke Upper Limb Spasticity Completed NCT01915459 Phase 3

Search NIH Clinical Center for Dystonia 9

Cochrane evidence based reviews: muscle spasticity

Genetic Tests for Dystonia 9

Genetic tests related to Dystonia 9:

# Genetic test Affiliating Genes
1 Dystonia 9 29 SLC2A1

Anatomical Context for Dystonia 9

MalaCards organs/tissues related to Dystonia 9:

40
Spinal Cord, Brain, Bone, Liver, Testes, Cortex, Heart

Publications for Dystonia 9

Articles related to Dystonia 9:

(show all 22)
# Title Authors PMID Year
1
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 61 56 6
21832227 2011
2
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. 56 6
8808284 1996
3
Glucose Transporter Type 1 Deficiency Syndrome 61 6
20301603 2002
4
EFNS guidelines on diagnosis and treatment of primary dystonias. 6
20482602 2011
5
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 6
19798636 2009
6
Paroxysmal movement disorders in GLUT1 deficiency syndrome. 6
18606970 2008
7
Hereditary Dystonia Overview 6
20301334 2003
8
Clinical and molecular genetics of primary dystonias. 56
10737119 1998
9
Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. 56
1575453 1992
10
SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia. 61
30616884 2019
11
Reliability of clinical diagnosis of dystonia. 61
25402591 2014
12
Overview of primary monogenic dystonia. 61
22166420 2012
13
In vivo evidence for GABA(A) receptor changes in the sensorimotor system in primary dystonia. 61
21370265 2011
14
Suicidality as rare adverse event of antidepressant medication: report from the AMSP multicenter drug safety surveillance project. 61
20816032 2010
15
The monogenic primary dystonias. 61
19578124 2009
16
[Botulinum A toxin treatment in patients with oromandibular dystonia with concomitant malnutrition]. 61
15098332 2003
17
Post-streptococcal autoimmune dystonia with isolated bilateral striatal necrosis. 61
12162386 2002
18
Evaluation and treatment of dystonia. 61
10963502 2000
19
Genetics of primary dystonia. 61
12194383 1999
20
[Ataxia telangiectasia: review of 13 new cases]. 61
8852005 1996
21
Bilateral striatal lesions in childhood. 61
8292209 1993
22
[Symptomatology of the involuntary movement]. 61
2012697 1991

Variations for Dystonia 9

ClinVar genetic disease variations for Dystonia 9:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC2A1 NM_006516.3(SLC2A1):c.667C>T (p.Arg223Trp)SNV Pathogenic 207193 rs796053248 1:43395556-43395556 1:42929885-42929885
2 SLC2A1 NM_006516.3(SLC2A1):c.19-2A>GSNV Pathogenic 207225 rs796053272 1:43408994-43408994 1:42943323-42943323
3 SLC2A1 NM_006516.3(SLC2A1):c.634C>T (p.Arg212Cys)SNV Pathogenic 37300 rs387907312 1:43395589-43395589 1:42929918-42929918
4 SLC2A1 NM_006516.3(SLC2A1):c.161dup (p.Ser55fs)duplication Pathogenic 619980 rs1557646867 1:43396830-43396831 1:42931159-42931160
5 SLC2A1 NM_006516.3(SLC2A1):c.376C>T (p.Arg126Cys)SNV Pathogenic/Likely pathogenic 16118 rs80359818 1:43396437-43396437 1:42930766-42930766
6 SLC2A1 NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp)SNV Pathogenic/Likely pathogenic 96708 rs13306758 1:43392819-43392819 1:42927148-42927148
7 SLC2A1 NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp)SNV Pathogenic/Likely pathogenic 198842 rs80359825 1:43394680-43394680 1:42929009-42929009
8 SLC2A1 NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr)SNV Conflicting interpretations of pathogenicity 198843 rs141619735 1:43394661-43394661 1:42928990-42928990
9 SLC2A1 NM_006516.3(SLC2A1):c.1395C>T (p.Ser465=)SNV Conflicting interpretations of pathogenicity 212203 rs75852730 1:43392796-43392796 1:42927125-42927125
10 SLC2A1 NM_006516.3(SLC2A1):c.188C>T (p.Thr63Met)SNV Conflicting interpretations of pathogenicity 406880 rs200828053 1:43396804-43396804 1:42931133-42931133
11 SLC2A1 NM_006516.3(SLC2A1):c.192C>G (p.Leu64=)SNV Uncertain significance 626018 rs762583668 1:43396800-43396800 1:42931129-42931129
12 SLC2A1 NM_006516.3(SLC2A1):c.75G>A (p.Gln25=)SNV Uncertain significance 626019 rs1557651193 1:43408936-43408936 1:42943265-42943265
13 SLC2A1 NM_006516.3(SLC2A1):c.1060G>A (p.Ala354Thr)SNV not provided 441137 rs780529723 1:43394617-43394617 1:42928946-42928946

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 9:

73
# Symbol AA change Variation ID SNP ID
1 SLC2A1 p.Arg126Cys VAR_054757 rs80359818
2 SLC2A1 p.Arg212Cys VAR_065213 rs387907312

Expression for Dystonia 9

Search GEO for disease gene expression data for Dystonia 9.

Pathways for Dystonia 9

GO Terms for Dystonia 9

Cellular components related to Dystonia 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 8.62 SLC2A1 MYH1

Biological processes related to Dystonia 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.5 SCN3A GABRE CLCN6
2 chloride transmembrane transport GO:1902476 9.26 GABRE CLCN6
3 chloride transport GO:0006821 9.16 GABRE CLCN6
4 ion transmembrane transport GO:0034220 9.13 SCN3A GABRE CLCN6
5 transmembrane transport GO:0055085 8.92 SLC2A1 SCN3A GJA8 CLCN6

Molecular functions related to Dystonia 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 8.96 SLC2A1 CLCN6
2 ion channel activity GO:0005216 8.62 SCN3A GABRE

Sources for Dystonia 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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