DYT9
MCID: DYS119
MIFTS: 45

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 57 12 74 29 6 15
Choreoathetosis/spasticity, Episodic 57 13 72
Dyt9 57 59 74
Episodic Choreoathetosis/spasticity 59 74
Paroxysmal Dystonic Choreathetosis with Episodic Ataxia and Spasticity 59
Choreoathetosis, Kinesigenic, with Episodic Ataxia and Spasticity 57
Kinesigenic Choreoathetosis with Episodic Ataxia and Spasticity 74
Cse Choreoathetosis, Paroxysmal, with Episodic Ataxia 57
Paroxysmal Choreoathetosis with Episodic Ataxia 74
Muscle Spasticity 44
Dystonia, Type 9 40
Dystonia-9 74
Cse 74

Characteristics:

OMIM:

57
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:

32
dystonia 9:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0090044
ICD10 33 G24.8
ICD10 via Orphanet 34 G24.8
UMLS via Orphanet 73 C1832855
Orphanet 59 ORPHA53583
MedGen 42 C1832855
UMLS 72 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 Tizanidine and Norepinephrine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and bone, and related phenotypes are paroxysmal dyskinesia and diplopia

OMIM : 57 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 : 74 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
Rare Dystonia

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

(show top 50) (show all 125)
# 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 pulmonary disease, chronic obstructive 10.2
22 encephalopathy 10.2
23 homocysteinemia 10.1
24 eclampsia 10.1
25 substance abuse 10.1
26 glut1 deficiency syndrome 2 10.1
27 hereditary spastic paraplegia 10.1
28 adcy5-related dyskinesia 10.1
29 spastic paraparesis 10.1
30 paroxysmal choreoathetosis 10.1
31 spasticity 10.1
32 traumatic brain injury 10.1
33 spastic cerebral palsy 10.1
34 atherosclerosis susceptibility 10.1
35 coronary heart disease 1 10.1
36 impotence 10.1
37 hyperglycemia 10.1
38 b-cell lymphoma 10.1
39 hypoglycemia 10.1
40 brain injury 10.0
41 hypertonia 10.0
42 bladder cancer 9.9
43 seizures, benign familial neonatal, 1 9.9
44 hair whorl 9.9
45 hypercholesterolemia, familial, 1 9.9
46 papillomatosis, confluent and reticulated 9.9
47 cystathioninuria 9.9
48 retinitis pigmentosa 9.9
49 ataxia and polyneuropathy, adult-onset 9.9
50 helicobacter pylori infection 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:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 paroxysmal dyskinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007166
2 diplopia 59 32 frequent (33%) Frequent (79-30%) HP:0000651
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
5 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
6 abnormal pyramidal sign 59 32 frequent (33%) Frequent (79-30%) HP:0007256
7 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
8 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
9 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
10 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
11 spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0001258
12 episodic ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002131
13 generalized tonic-clonic seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0002069
14 dyskinesia 32 HP:0100660
15 cognitive impairment 32 HP:0100543
16 migraine 32 HP:0002076
17 morphological abnormality of the pyramidal tract 32 HP:0002062

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
diplopia

Neurologic Peripheral Nervous System:
paresthesias

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

Clinical features from OMIM:

601042

UMLS symptoms related to Dystonia 9:


headache, involuntary movements, muscle spasticity, abnormal pyramidal signs

Drugs & Therapeutics for Dystonia 9

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Botulinum toxin type A For the treatment of cervical dystonia in adults to decrease the severity of abnormal head position and neck pain associated with cervical dystonia. Also for the treatment of severe primary axillary hyperhidrosis that is inadequately managed with topical agents and for the treatment of strabismus and blepharospasm associated with dystonia, including benign essential blepharospasm or VII nerve disorders in patients 12 years of age and above. Also used cosmetically to temporarily improve the appearance of moderate-to-severe frown lines between the eyebrows (glabellar lines) as well as for the treatment of excessive underarm sweating. DB00083
2 Tizanidine Tizanidine is indicated for the relief of muscle spasticity, which can interfere with daily activities. The general recommendation is to reserve tizanidine use for periods of time when there is a particular need for relief, as it has a short duration of action [FDA label, F4471]. DB00697

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

(show top 50) (show all 158)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tizanidine Approved, Investigational Phase 4 51322-75-9 5487
2
Norepinephrine Approved Phase 4 51-41-2 439260
3
Baclofen Approved Phase 4 1134-47-0 2284
4 Psychotropic Drugs Phase 4
5 Anticonvulsants Phase 4
6 Parasympatholytics Phase 4
7 Adrenergic alpha-2 Receptor Agonists Phase 4
8 Adrenergic Agonists Phase 4
9 Adrenergic alpha-Agonists Phase 4
10 Adrenergic Agents Phase 4
11 Autonomic Agents Phase 4
12 rimabotulinumtoxinB Phase 4
13 Antidepressive Agents Phase 4
14 Antidepressive Agents, Second-Generation Phase 4
15 Neurotransmitter Uptake Inhibitors Phase 4
16 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
17 Venlafaxine Hydrochloride Phase 4
18 abobotulinumtoxinA Phase 4
19 Botulinum Toxins, Type A Phase 4
20
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
21
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
22
4-Aminopyridine Approved Phase 3 504-24-5 1727
23
Oxymetazoline Approved, Investigational Phase 3 1491-59-4 4636
24
Phenylephrine Approved Phase 3 59-42-7 6041
25
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
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 Potassium Channel Blockers Phase 3
33 GABA Agonists Phase 3
34 GABA-B Receptor Agonists Phase 3
35 Antioxidants Phase 3
36 Protective Agents Phase 3
37 Free Radical Scavengers Phase 3
38 Phosphodiesterase Inhibitors Phase 3
39 Radiation-Protective Agents Phase 3
40 Vasodilator Agents Phase 3
41
Salicylic acid Approved, Investigational, Vet_approved Phase 2 69-72-7 338
42
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
43
Moxifloxacin Approved, Investigational Phase 2 354812-41-2, 151096-09-2 152946
44
Ethinyl Estradiol Approved Phase 2 57-63-6 5991
45
Norgestimate Approved, Investigational Phase 2 35189-28-7 6540478
46
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
47
Polyestradiol phosphate Approved Phase 2 28014-46-2
48
Nabilone Approved, Investigational Phase 2 51022-71-0 5284592
49
Resveratrol Approved, Experimental, Investigational Phase 2 501-36-0 445154
50
chenodeoxycholic acid Approved Phase 2 474-25-9 10133

Interventional clinical trials:

(show top 50) (show all 358)
# 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 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 Spasticity. Completed NCT02321436 Phase 4 Placebo
13 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
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 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
29 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
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 Central Effects of Botulinum Toxin: Neurophysiological Study in Stroke Patients With Spastic Lower Limb Unknown status NCT01829763 Phase 3 injection botox
38 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
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 Safety Study of SPARC1104 Completed NCT01797185 Phase 3 SPARC1104 modified dose regimen I;SPARC1104 modified dose regimen II;SPARC1104 modified dose regimen III
45 BOTOX® Treatment in Pediatric Lower Limb Spasticity: Open-label Study Completed NCT01603641 Phase 3
46 BOTOX® Treatment in Pediatric Lower Limb Spasticity: Double-blind Study Completed NCT01603628 Phase 3 Normal Saline (Placebo)
47 BOTOX® Treatment in Pediatric Upper Limb Spasticity: Open-label Study Completed NCT01603615 Phase 3
48 BOTOX® Treatment in Pediatric Upper Limb Spasticity: Double-blind Study Completed NCT01603602 Phase 3 Normal Saline (Placebo)
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 Phase III, Multicentre, Double Blind, Prospective, Randomised, Controlled, Multiple Treatment Study Assessing Efficacy And Safety Of DYSPORT® Used In The Treatment Of Upper Limb Spasticity In Children Completed NCT02106351 Phase 3 AbobotulinumtoxinA

Search NIH Clinical Center for Dystonia 9

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Botulinum toxin type A
Tizanidine

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:

41
Spinal Cord, Brain, Bone, Testes, Lung, T Cells, Cortex

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. 38 8 71
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. 8 71
8808284 1996
3
Glucose Transporter Type 1 Deficiency Syndrome 38 71
20301603 2002
4
EFNS guidelines on diagnosis and treatment of primary dystonias. 71
20482602 2011
5
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 71
19798636 2009
6
Paroxysmal movement disorders in GLUT1 deficiency syndrome. 71
18606970 2008
7
Hereditary Dystonia Overview 71
20301334 2003
8
Clinical and molecular genetics of primary dystonias. 8
10737119 1998
9
Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. 8
1575453 1992
10
SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia. 38
30616884 2019
11
Reliability of clinical diagnosis of dystonia. 38
25402591 2014
12
Overview of primary monogenic dystonia. 38
22166420 2012
13
In vivo evidence for GABA(A) receptor changes in the sensorimotor system in primary dystonia. 38
21370265 2011
14
Suicidality as rare adverse event of antidepressant medication: report from the AMSP multicenter drug safety surveillance project. 38
20816032 2010
15
The monogenic primary dystonias. 38
19578124 2009
16
[Botulinum A toxin treatment in patients with oromandibular dystonia with concomitant malnutrition]. 38
15098332 2003
17
Post-streptococcal autoimmune dystonia with isolated bilateral striatal necrosis. 38
12162386 2002
18
Evaluation and treatment of dystonia. 38
10963502 2000
19
Genetics of primary dystonia. 38
12194383 1999
20
[Ataxia telangiectasia: review of 13 new cases]. 38
8852005 1996
21
Bilateral striatal lesions in childhood. 38
8292209 1993
22
[Symptomatology of the involuntary movement]. 38
2012697 1991

Variations for Dystonia 9

ClinVar genetic disease variations for Dystonia 9:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC2A1 NM_006516.3(SLC2A1): c.376C> T (p.Arg126Cys) single nucleotide variant Pathogenic rs80359818 1:43396437-43396437 1:42930766-42930766
2 SLC2A1 NM_006516.3(SLC2A1): c.634C> T (p.Arg212Cys) single nucleotide variant Pathogenic rs387907312 1:43395589-43395589 1:42929918-42929918
3 SLC2A1 NM_006516.3(SLC2A1): c.667C> T (p.Arg223Trp) single nucleotide variant Pathogenic rs796053248 1:43395556-43395556 1:42929885-42929885
4 SLC2A1 NM_006516.3(SLC2A1): c.161dup (p.Ser55fs) duplication Pathogenic 1:43396831-43396831 1:42931160-42931160
5 SLC2A1 NM_006516.3(SLC2A1): c.1372C> T (p.Arg458Trp) single nucleotide variant Pathogenic/Likely pathogenic rs13306758 1:43392819-43392819 1:42927148-42927148
6 SLC2A1 NM_006516.3(SLC2A1): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic/Likely pathogenic rs80359825 1:43394680-43394680 1:42929009-42929009
7 SLC2A1 NM_006516.3(SLC2A1): c.1016T> C (p.Ile339Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs141619735 1:43394661-43394661 1:42928990-42928990
8 SLC2A1 NM_006516.3(SLC2A1): c.1395C> T (p.Ser465=) single nucleotide variant Conflicting interpretations of pathogenicity rs75852730 1:43392796-43392796 1:42927125-42927125
9 SLC2A1 NM_006516.3(SLC2A1): c.188C> T (p.Thr63Met) single nucleotide variant Uncertain significance rs200828053 1:43396804-43396804 1:42931133-42931133
10 SLC2A1 NM_006516.3(SLC2A1): c.192C> G (p.Leu64=) single nucleotide variant Uncertain significance 1:43396800-43396800 1:42931129-42931129
11 SLC2A1 NM_006516.3(SLC2A1): c.75G> A (p.Gln25=) single nucleotide variant Uncertain significance 1:43408936-43408936 1:42943265-42943265
12 SLC2A1 NM_006516.3(SLC2A1): c.1060G> A (p.Ala354Thr) single nucleotide variant not provided rs780529723 1:43394617-43394617 1:42928946-42928946

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

74
# 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 extracellular exosome GO:0070062 8.62 SLC2A1 ADIRF

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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