DYT12
MCID: DYS056
MIFTS: 63

Dystonia 12 (DYT12)

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

Aliases & Classifications for Dystonia 12

MalaCards integrated aliases for Dystonia 12:

Name: Dystonia 12 57 12 12 20 58 72 29 6 15 70
Dyt12 57 20 43 58 72
Generalized Dystonia 12 29 6 15
Rdp 57 20 43 72
Rapid-Onset Dystonia-Parkinsonism 20 58 72
Dystonia-12 57 72 13
Dystonia Musculorum Deformans 44 70
Idiopathic Familial Dystonia 70 32
Familial Dystonia 12 70
Dystonia-Parkinsonism, Rapid-Onset; Rdp 57
Dystonia-Parkinsonism, Rapid-Onset 57
Rapid-Onset Dystonia Parkinsonism 43
Idiopathic Non-Familial Dystonia 70
Dystonia 3, Torsion, X-Linked 70
Fragments of Torsion Dystonia 12
Symptomatic Torsion Dystonia 70
Dystonic Disorders 44
Dystonia Disorders 70
Dystonia, Type 12 39
Dyt-Atp1a3 20
Rodp 43

Characteristics:

Orphanet epidemiological data:

58
rapid-onset dystonia-parkinsonism
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
reduced penetrance
onset usually in late adolescence or early adulthood (range 15 to 45 years)
childhood onset rarely occurs
treatment with levodopa is not effective


HPO:

31
dystonia 12:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance young adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050835 DOID:0090056
OMIM® 57 128235
OMIM Phenotypic Series 57 PS128100
ICD9CM 34 333.6 333.8
ICD10 32 G24.1 G24.2
ICD10 via Orphanet 33 G24.1
UMLS via Orphanet 71 C1868681
Orphanet 58 ORPHA71517
MedGen 41 C1868681
UMLS 70 C0013423 C0154674 C0154675 more

Summaries for Dystonia 12

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 71517 Definition Rapid-onset dystonia -parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress. Epidemiology The prevalence is unknown. Fewer than 100 patients have been described worldwide to date. Clinical description RDP typically presents in childhood or early adulthood (but age of onset can range from 4-55 years) with the abrupt onset of dystonia along with parkinsonism (bradykinesia and postural instability) with a rostrocaudal gradient and prominent bulbar symptoms ( dysarthria and dysphagia ) that do not respond to dopaminergic medication. Symptoms may develop over several minutes to 30 days, after which time they stabilize. Often onset is triggered by physical exertion, fever, extreme heat, childbirth, excessive alcohol consumption or emotional stress. Some patients experience mild upper limb dystonia (mainly in the hands) and cramping before disease onset occurs. In most cases the disease stabilizes, but a few cases have been reported where a second episode of worsening of symptoms occurred 1-9 years after initial onset. In rare cases seizures, anxiety and depression have been reported. Recently, a variant phenotype in infants (<4 years of age) has been reported with initially episodic hypotonia, gait ataxia, motor delay, and speech and swallowing difficulties. Etiology RDP is caused by several missense mutations in the ATP1A3 gene (19q13.2) encoding the sodium/potassium-transporting ATPase subunit alpha-3 protein, which is important for maintaining the electrochemical gradients of potassium and sodium across the plasma membrane. These mutations are thought to lead to neuronal dysfunction. Other genes, which have not yet been identified, may also be involved. Diagnostic methods Diagnosis is based on the sudden onset of clinical manifestations (parkinsonism and dystonia), the finding of low homovanillic acid concentrations in cerebrospinal fluid (CSF), normal brain imaging studies and the lack of response to levodopa (L-dopa) therapy. Positron emission tomography (PET) and single-photon emission computed tomography (SPECT) studies show normal dopamine reuptake in dopamine transporters. A mutation in the ATP1A3 gene may confirm diagnosis. Differential diagnosis Differential diagnosis includes other forms of dystonia-parkinsonism, such as young adult-onset parkinsonism, dopa-responive dystonia (DRD), dystonia 16 (DYT16) and X-linked dystonia parkinsonism (DYT3). Unlike DYT3 and other forms of young-onset parkinsonism, RDP is not a neurodegenerative disorder. Antenatal diagnosis Prenatal diagnosis is possible in families where a disease causing mutation is known. Genetic counseling RDP is inherited in an autosomal dominant manner with reduced penetrance, and genetic counseling is possible and recommended. De novo mutations are also observed. Management and treatment There is no effective treatment for RDP at present. L-dopa is ineffective. Pallidal deep brain stimulation (DBS) has shown limited or no therapeutic effects. If present, seizures, anxiety and depression can be treated with standard therapy. High-dose benzodiazepines and possibly other muscle relaxants may offer some symptomatic relief. All known triggers of RDP should be avoided. Physical therapy is recommended. Prognosis There is no effect on life expectancy, but quality of life is severely affected.

MalaCards based summary : Dystonia 12, also known as dyt12, is related to dystonia 1, torsion, autosomal dominant and dystonia 3, torsion, x-linked, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Dystonia 12 is ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3), and among its related pathways/superpathways is Neuroscience. The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include globus pallidus, subthalamic nucleus and cortex, and related phenotypes are dysarthria and dysphagia

Disease Ontology : 12 A dystonia that affects most or all of the body.

MedlinePlus Genetics : 43 Rapid-onset dystonia parkinsonism is a rare movement disorder. "Rapid-onset" refers to the abrupt appearance of signs and symptoms over a period of hours to days. Dystonia is a condition characterized by involuntary, sustained muscle contractions. Parkinsonism can include tremors, unusually slow movement (bradykinesia), rigidity, an inability to hold the body upright and balanced (postural instability), and a shuffling walk that can cause recurrent falls.Rapid-onset dystonia parkinsonism causes movement abnormalities that can make it difficult to walk, talk, and carry out other activities of daily life. In this disorder, dystonia affects the arms and legs, causing muscle cramping and spasms. Facial muscles are often affected, resulting in problems with speech and swallowing. The movement abnormalities associated with rapid-onset dystonia parkinsonism tend to begin near the top of the body and move downward, first affecting the facial muscles, then the arms, and finally the legs.The signs and symptoms of rapid-onset dystonia parkinsonism most commonly appear in adolescence or young adulthood. In some affected individuals, signs and symptoms can be triggered by an infection, physical stress (such as prolonged exercise), emotional stress, or alcohol consumption. The signs and symptoms tend to stabilize within about a month, but they typically do not improve much after that. In some people with this condition, the movement abnormalities abruptly worsen during a second episode several years later.Some people with rapid-onset dystonia parkinsonism have been diagnosed with anxiety, social phobias, depression, and seizures. It is unclear whether these disorders are related to the genetic changes that cause rapid-onset dystonia parkinsonism.

OMIM® : 57 Dystonia-12, also known as rapid-onset dystonia-parkinsonism, is an autosomal dominant disorder characterized by abrupt onset of asymmetric dystonia and parkinsonism in young adulthood, often after a trigger such as physical overexertion, trauma, heat, or fever. Affected individuals also show slowly progressive nonparoxysmal neurologic deterioration in a rostrocaudal gradient with prominent bulbar dysfunction (summary by Rosewich et al., 2014). (128235) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Dystonia 12: An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability.

Related Diseases for Dystonia 12

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 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 215)
# Related Disease Score Top Affiliating Genes
1 dystonia 1, torsion, autosomal dominant 32.5 TOR1A THAP1 SGCE GNAL ANO3
2 dystonia 3, torsion, x-linked 32.1 TOR1A THAP1 TAF1L TAF1 SGCE ATP1A3
3 dystonia, dopa-responsive 31.5 TOR1A THAP1 TAF1L TAF1 SLC2A1 SGCE
4 alternating hemiplegia of childhood 30.8 THAP1 TAF1 SLC2A1 SGCE GNAL CACNA1A
5 dystonia 27 30.7 GNAL ANO3
6 dystonia 11, myoclonic 30.6 TOR1A THAP1 SGCE GNAL ATP1A3 ANO3
7 dystonia 25 30.6 TOR1A THAP1 GNAL ANO3
8 myoclonus 30.4 SLC2A1 SGCE KMT2B
9 torsion dystonia 2 30.4 TOR1A THAP1 GNAL ANO3
10 torsion dystonia 4 30.4 TOR1A THAP1 GNAL ANO3
11 spasmodic dysphonia 30.3 TOR1A THAP1
12 hemiplegia 30.3 SLC2A1 CACNA1A ATP1A3
13 hereditary dystonia 30.3 THAP1 ATP13A2 ANO3
14 torticollis 30.2 TOR1A CACNA1A
15 blepharospasm 30.1 TOR1A THAP1 TAF1L TAF1 SGCE GNAL
16 lymphatic malformation 5 30.1 TOR1A THAP1 TAF1L TAF1 SGCE
17 isolated dystonia 30.0 TOR1A THAP1 GNAL ANO3
18 autosomal dominant cerebellar ataxia 29.9 PRKN PINK1 CACNA1A ATXN1
19 focal hand dystonia 29.9 TOR1A THAP1 SGCE GNAL ANO3
20 hemidystonia 29.9 TOR1A THAP1 TAF1L TAF1 SGCE GNAL
21 parkinsonism 29.9 TAF1 SLC39A14 SLC30A10 PINK1 ATP1A3
22 parkinson disease, late-onset 29.9 TOR1A TAF1L TAF1 PRKN PINK1 CACNA1A
23 cervical dystonia 29.9 TOR1A THAP1 SGCE GNAL ANO3
24 oromandibular dystonia 29.7 TOR1A THAP1 SGCE GNAL ATP1A3 ATP13A2
25 segmental dystonia 29.6 TOR1A THAP1 TAF1L TAF1 SGCE GNAL
26 focal dystonia 29.5 TOR1B TOR1A THAP1 TAF1L TAF1 SGCE
27 choreatic disease 29.2 TOR1A THAP1 SLC2A1 SGCE PRKN PINK1
28 movement disease 28.9 TOR1B TOR1A THAP1 TAF1L TAF1 SLC2A1
29 dystonia 28.4 TOR1B TOR1A THAP1 TAF1 SLC39A14 SLC30A10
30 dystonia 16 11.1
31 torsion dystonia with onset in infancy 11.1
32 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 11.1
33 dystonia 2, torsion, autosomal recessive 11.0
34 hyperphenylalaninemia, bh4-deficient, a 11.0
35 dystonia 6, torsion 11.0
36 segawa syndrome, autosomal recessive 11.0
37 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 11.0
38 dyt-thap1 11.0
39 dystonia 4, torsion, autosomal dominant 10.9
40 leber optic atrophy and dystonia 10.9
41 neurodegeneration with brain iron accumulation 4 10.9
42 diencephalic-mesencephalic junction dysplasia syndrome 2 10.9
43 spastic monoplegia 10.4 TOR1A SLC2A1
44 cranio-facial dystonia 10.4 TOR1A THAP1 ATCAY
45 parkinson disease 10 10.3 PRKN PINK1
46 spinocerebellar ataxia, autosomal recessive 14 10.3 CACNA1A ATP1A3
47 color agnosia 10.3 PRKN PINK1
48 radial nerve lesion 10.3 TOR1B PRKN
49 juvenile-onset parkinson's disease 10.3 PRKN ATP13A2
50 hypermanganesemia with dystonia 10.3 SLC39A14 SLC30A10 ATP13A2

Graphical network of the top 20 diseases related to Dystonia 12:



Diseases related to Dystonia 12

Symptoms & Phenotypes for Dystonia 12

Human phenotypes related to Dystonia 12:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
2 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
3 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
4 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
5 torticollis 58 31 frequent (33%) Frequent (79-30%) HP:0000473
6 limb dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0002451
7 mutism 58 31 frequent (33%) Frequent (79-30%) HP:0002300
8 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
9 drooling 58 31 frequent (33%) Frequent (79-30%) HP:0002307
10 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
11 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
12 hypomimic face 58 31 frequent (33%) Frequent (79-30%) HP:0000338
13 emotional lability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000712
14 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
15 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
16 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
17 resting tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002322
18 seizure 31 occasional (7.5%) HP:0001250
19 generalized hypotonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001290
20 seizures 58 Occasional (29-5%)
21 fever 31 HP:0001945
22 unsteady gait 31 HP:0002317
23 craniofacial dystonia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Behavioral Psychiatric Manifestations:
emotional lability
anxiety
depression

Head And Neck Neck:
torticollis

Neurologic Central Nervous System:
dysarthria
dysphagia
dystonia
unsteady gait
mutism
more
Head And Neck Face:
hypomimic face
facial dystonia

Clinical features from OMIM®:

128235 (Updated 05-Apr-2021)

UMLS symptoms related to Dystonia 12:


seizures; tremor; myoclonus; back pain; dystonia; headache; torticollis; syncope; pain; bradykinesia; opisthotonus; chronic pain; sciatica; vertigo/dizziness; sleeplessness; muscle cramp; spasm; spasmodic torticollis; dystonia, paroxysmal; dystonia, limb; spasm oropharyngeal; neck cramps

GenomeRNAi Phenotypes related to Dystonia 12 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 10.25 PINK1
2 Decreased viability GR00221-A-1 10.25 PINK1
3 Decreased viability GR00221-A-2 10.25 PINK1
4 Decreased viability GR00221-A-3 10.25 PINK1
5 Decreased viability GR00221-A-4 10.25 PINK1
6 Decreased viability GR00249-S 10.25 ATP1A3 CACNA1A PRKN SGCE SLC30A10
7 Decreased viability GR00301-A 10.25 PINK1 TAF1L
8 Decreased viability GR00342-S-2 10.25 TAF1L
9 Decreased viability GR00386-A-1 10.25 ANO3 ATP13A2 ATP1A3 SLC2A1 SLC39A14
10 Decreased viability GR00402-S-2 10.25 ANO3 ATP13A2 KMT2B PINK1 TAF1 TAF1L
11 Increased virus production GR00378-A 8.8 SLC39A14 TAF1 TAF1L
12 Increased the percentage of infected cells GR00402-S-1 8.65 ATCAY

MGI Mouse Phenotypes related to Dystonia 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ATCAY ATP13A2 ATP1A3 ATXN1 CACNA1A GNAL
2 growth/size/body region MP:0005378 10.17 ATCAY ATP1A3 ATXN1 CACNA1A GNAL KMT2B
3 homeostasis/metabolism MP:0005376 10.07 ATCAY ATP13A2 ATP1A3 ATXN1 CACNA1A KMT2B
4 mortality/aging MP:0010768 9.97 ATCAY ATP1A3 ATXN1 CACNA1A GNAL KMT2B
5 muscle MP:0005369 9.56 ATCAY ATP1A3 ATXN1 CACNA1A PRKN SGCE
6 nervous system MP:0003631 9.47 ATCAY ATP13A2 ATP1A3 ATXN1 CACNA1A KMT2B

Drugs & Therapeutics for Dystonia 12

Drugs for Dystonia 12 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2 abobotulinumtoxinA Phase 4
3 Neurotransmitter Agents Phase 4
4 Cholinergic Agents Phase 4
5 Botulinum Toxins Phase 4
6 Botulinum Toxins, Type A Phase 4
7 Pharmaceutical Solutions Phase 4
8 incobotulinumtoxinA Phase 4
9 rimabotulinumtoxinB Phase 4
10
Zonisamide Approved, Investigational Phase 3 68291-97-4 5734
11 Hormones Phase 3
12 calcium channel blockers Phase 3
13 Calcium, Dietary Phase 3
14
Calcium Nutraceutical Phase 3 7440-70-2 271
15
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
16
Trihexyphenidyl Approved Phase 2 58947-95-8, 144-11-6 5572
17
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
18
Amlodipine Approved Phase 2 88150-42-9 2162
19
Promethazine Approved, Investigational Phase 2 60-87-7 4927
20
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
21
Levetiracetam Approved Phase 2 102767-28-2 441341
22 Psychotropic Drugs Phase 2
23 Hallucinogens Phase 2
24 Analgesics, Non-Narcotic Phase 2
25 Hormone Antagonists Phase 2
26 Analgesics Phase 2
27 Muscarinic Antagonists Phase 2
28 Cholinergic Antagonists Phase 2
29 Antiparkinson Agents Phase 2
30 Sodium Channel Blockers Phase 2
31 Diuretics, Potassium Sparing Phase 2
32 Anti-Arrhythmia Agents Phase 2
33 Antihypertensive Agents Phase 2
34 Vasodilator Agents Phase 2
35 Anticonvulsants Phase 2
36 Nootropic Agents Phase 2
37
Ampicillin Approved, Vet_approved Phase 1 69-53-4 6249
38
Zolpidem Approved Phase 1 82626-48-0 5732
39 Anti-Bacterial Agents Phase 1
40 Anti-Infective Agents Phase 1
41 Hypnotics and Sedatives Phase 1
42 GABA Agonists Phase 1
43 Fluorodeoxyglucose F18 Phase 1
44 Mung bean Approved
45
Flumazenil Approved 78755-81-4 3373
46
Dopamine Approved 62-31-7, 51-61-6 681
47
Baclofen Approved 1134-47-0 2284
48
Triamcinolone Approved, Vet_approved 124-94-7 31307
49
tannic acid Approved 1401-55-4
50
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337

Interventional clinical trials:

(show top 50) (show all 213)
# Name Status NCT ID Phase Drugs
1 Randomisierte, Doppelblinde Langzeitstudie Zur Klinischen Wirksamkeit Der Bilateralen Globus Pallidus Internus-Stimulation Bei Idiopathischer Generalisierter Oder Segmentaler Dystonie Unknown status NCT00142259 Phase 4
2 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4 Nuronox
3 An Open Label Evaluation of MIDI to Quantify Performance Change in Subjects With Musician's Dystonia After Treatment With Botulinum Toxin Type B (Myobloc ®). Completed NCT00208091 Phase 4 Botulinum toxin, type B
4 An Open-Label, Non-Inferiority Study Evaluating the Efficacy and Safety of Two Injection Schedules of Xeomin® (incobotulinumtoxinA) [Short Flex Versus Long Flex] in Subjects With Cervical Dystonia With < 10 Weeks of Benefit From OnabotulinumtoxinA Treatment Completed NCT01486264 Phase 4
5 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Completed NCT02618889 Phase 4
6 An Open Label Safety and Immunogenicity Study of MYOBLOC (Neurobloc; Botulinum Toxin Type B) Injectable Solution in Patients With Cervical Dystonia Completed NCT00702754 Phase 4
7 A Double Blind, Randomized, Multi-center, Cross-over Study to Demonstrate the Non-inferiority of Dysport® in Comparison With Botox®, Assuming a Bioequivalence Ratio of 2.5:1 Units, in the Cervical Dystonia Completed NCT00950664 Phase 4 Dysport® (abobotulinumtoxinA);Botox® (onabotulinumtoxinA)
8 Synergistic Effects of Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
9 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 Phase 4
10 Pre-injection, Multi-channel EMG Mapping to Optimize Botulinum Toxin Type A Efficacy in Cervical Dystonia. Completed NCT00773253 Phase 4 Botulinum toxin A
11 Prospective, Single-arm, Multicenter Trial to Investigate the Efficacy and Safety of NT 201 and the Duration of Treatment Effect After One Injection Session and in Long-term Treatment in Patients With Cervical Dystonia Completed NCT00541905 Phase 4 NT 201
12 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
13 Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia Unknown status NCT00169403 Phase 3
14 Foot Dystonia Treatment by Botulinum Toxin Injections in Parkinson Disease : Efficiency of Injections Made in Extrinsic Muscle (Flexor Digitorum Longus Muscle) Compared to Intrinsic Muscle (Flexor Digitorum Brevis or Quadratus Plantae Muscles) Unknown status NCT00909883 Phase 3 Botulinum Toxin: Xeomin;Placebo
15 Phase II/III Study of Deep Brain Stimulation in Patients With Dystonia Completed NCT00004421 Phase 2, Phase 3
16 Prospective, Double-blind, Placebo-controlled, Randomized, Multi-center Trial With a Double-blind Parallel-group Extension Period to Investigate the Efficacy and Safety of Different Doses of IncobotulinumtoxinA (Xeomin) in the Treatment of Cervical Dystonia Completed NCT00407030 Phase 3 incobotulinumtoxinA (Xeomin) (240 Units);incobotulinumtoxinA (Xeomin) (120 Units);Placebo
17 A Phase III, Prospective, Multicenter, Open-label Extension Study to Assess the Longer Term Safety and Efficacy of Repeated Treatment of Dysport® Intramuscular Injection in the Treatment of Cervical Dystonia Completed NCT00288509 Phase 3
18 A Phase III Multicentre, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of Dysport® for the Treatment of Cervical Dystonia Completed NCT00257660 Phase 3 Placebo
19 Prospective,Randomised, Double-blind, Multicenter Study to Assess the Efficacy and Safety of Bilateral Globus Pallidus Internus - in Patients With Medically Refractory Primary Cervical Dystonia Completed NCT00148889 Phase 3
20 Comparison of Electrophysiologic and Ultrasound Guidance for Onabotulinum Toxin A Injections in Focal Upper Extremity Dystonia and Spasticity Completed NCT02326818 Phase 3
21 Comparative Study of the Efficiency of Zonisamide in Myoclonus Dystonia: A Monocentric , Randomized in Cross Over and Double Blind Study Versus Placebo Study Completed NCT01806805 Phase 3 zonegran;placebo
22 A Phase IIIb, Prospective, Multicentre, Open-Label Extension Study To Assess Long Term Safety And Effectiveness Of Dysport® Using 2 mL Dilution In Adults With Cervical Dystonia Completed NCT01753336 Phase 3
23 A Phase 3b, Multicentre, Randomised, Double-Blind, Placebo-Controlled Study Evaluating the Efficacy and Safety of DYSPORT® Using 2mL Dilution in Adults With Cervical Dystonia. Completed NCT01753310 Phase 3 Placebo
24 Open Multicentre Study to Demonstrate the Efficacy and Safety of Botulinum Toxin A (500 Units Dysport®) in the Treatment of Heterogeneous Forms of Cervical Dystonia Completed NCT00447772 Phase 3
25 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Parallel Group, Multi-Center Trial to Evaluate the Efficacy and Safety of a Single Treatment of DaxibotulinumtoxinA for Injection in Adults With Isolated Cervical Dystonia (ASPEN-1) Completed NCT03608397 Phase 3
26 A Phase III, Randomised, Double-blind and Open Label Phase, Active and Placebo Controlled Study Comparing the Short-term Efficacy of Two Formulations of Clostridium Botulinum Type A Toxin (Dysport and Dysport NG) to Placebo, and Assessing the Short and Long Term Efficacy and Safety of Dysport NG Following Repeated Treatments of Subjects With Cervical Dystonia Completed NCT01261611 Phase 3 Placebo
27 A Prospective, Randomized, Multi-center, Phase III, Double-Blind, Activi Controlled, Parallel-group Study to Evaliate the Efficacy and Safety of MEDITOXIN® Comparison With BOTOX® in Treatment of Cervical Dystonia Completed NCT03905304 Phase 3
28 A 48-Week Prospective, Double-Blinded, Randomized, Cross-over Design in Multicenter Study of 250 Unit of Dysport Versus 50 Unit of Neuronox Injection For Cervical Dystonia in Thai Patients Completed NCT03805152 Phase 3 Neuronox(R);Dysport (R)
29 A Prospective, Randomized, Multi-center, Phase III, Double-blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of MEDITOXIN in Treatment of Cervical Dystonia Completed NCT03232320 Phase 3 Meditoxin;Placebo
30 Botulinum Toxin A (Onabotulinumtoxin A) for Foot Dystonia-associated Pain in Parkinson's Disease: A Randomized, Double-blind Placebo Control Study Recruiting NCT04277247 Phase 2, Phase 3 Botulinum toxin type A;Placebo
31 IncobotulinumtoxinA (Xeomin) to Treat Focal Hand Dystonia: a Double-blind Placebo-controlled Randomized Multicenter Study: The "SwissHandSpasm" Study Recruiting NCT03977493 Phase 3 Xeomin;Placebo - Concentrate
32 24-Week Prospective, Double-Blinded, Randomized, Cross-over Design in Multicenter Study of 50 Unit of Neubotulinum Toxin Type A (Neuronox) and 100 Unit of Neubotulinum Toxin Type A (Neuronox) Injection for Cervical Dystonia in Thai Patients Recruiting NCT04582929 Phase 3 Neuronox ® Injection
33 A Phase 3, Open-Label, Multi-Center Trial to Evaluate the Long-Term Safety and Efficacy of Repeat Treatments of DaxibotulinumtoxinA for Injection in Adults With Isolated Cervical Dystonia (ASPEN-OLS) Active, not recruiting NCT03617367 Phase 3
34 Phase II, Double Blind, Randomized, Placebo Controlled Trial of Dronabinol for the Treatment of Cervical Dystonia Unknown status NCT00418925 Phase 2 Dronabinol
35 Multicenter, Randomized Trial on the Effects of Pallidal Deep Brain Stimulation for Tardive Dystonia Unknown status NCT00331669 Phase 2
36 A Randomized Double Blind Study of Cannabis on Dystonia and Spasticity in Pediatric Patients Unknown status NCT02470325 Phase 2 Avidekel oil;Enriched Avidekel oil
37 Pilot Open-label and Blinded Clinical Trial of Transcranial Direct-current Stimulation in Childhood Dystonia Unknown status NCT01460771 Phase 2
38 ASIS for Botox in Cervical Dystonia Unknown status NCT02074293 Phase 1, Phase 2 Gadolinium;Gadolinium;Gadolinium;Efficacy of Botox intramuscularly at Week 6;Efficacy of Botox intramuscularly at Week 12;Efficacy of Botox intramuscularly at Week 18;Efficacy of Botox intramuscularly at Week 24;Efficacy of Botox intramuscularly at Week 30;Efficacy of Botox subdermally at Week 6;Efficacy of Botox subdermally at Week 12;Efficacy of Botox subdermally at Week 18;Efficacy of Botox subdermally at Week 24;Efficacy of Botox subdermally at Week 30;Adverse Reactions of Botox intramuscularly;Adverse Reactions of Botox subdermally
39 Childhood Hypertonia of Central Origin: An Open Label Trial of Anticholinergic Treatment Effects Completed NCT00122044 Phase 2 trihexyphenidyl
40 Deep Brain Stimulation of the Globus Pallidus Interna or the Subthalamic Nucleus for Treatment of Generalized Primary Dystonia Completed NCT00105430 Phase 2
41 Blepharospasm and the Experimental Modulation of Cortical Excitability in Primary and Secondary Motor Areas. A Pilot Study. Completed NCT00411255 Phase 2
42 Pallidal Stimulation in Patients With Post-anoxic and Idiopathic Dystonia Completed NCT00169338 Phase 2
43 Placebo Controlled Study of the Therapeutic Effect of the Transcranial Electrical Polarization in Patients With Focal Hand Dystonia Completed NCT00106782 Phase 2
44 Randomized, Double-Blind, Placebo-Controlled, Crossover Study of Botulinum Toxin Type A (Botox) for the Treatment of Pain Associated With Cervical Dystonia and Refractory Cervicothoracic Myofascial Pain Syndrome Completed NCT00178945 Phase 1, Phase 2 Botulinum Toxin Type A
45 Motor Training as Treatment of Focal Hand Dystonia Completed NCT00021853 Phase 2
46 Mexiletine for the Treatment of Focal Dystonia Completed NCT00001784 Phase 2 Mexiletine
47 Trial of Amlodipine Combined With Botulinum Toxin Injections for Focal Dystonia Completed NCT00015457 Phase 2 Amlodipine plus Botulinum toxin
48 A Pilot Dose Ranging Study of Dysport® (AbobotulinumtoxinA) in the Treatment of Oromandibular Dystonia Completed NCT01921270 Phase 1, Phase 2 Low Dose - AbobotulinumtoxinA
49 Study to Evaluate Safety, Efficacy of Botulinum Toxin Type A in Patients With Cervical Dystonia Completed NCT00564681 Phase 2 Normal Saline
50 Effectiveness of rTMS and Retraining in the Treatment of Focal Hand Dystonia Completed NCT01738581 Phase 1, Phase 2

Search NIH Clinical Center for Dystonia 12

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Amantadine
Amantadine Hydrochloride
Botulinum Toxin Type A
botulinum toxin type B
rimabotulinumtoxinB

Cochrane evidence based reviews: dystonia musculorum deformans

Genetic Tests for Dystonia 12

Genetic tests related to Dystonia 12:

# Genetic test Affiliating Genes
1 Dystonia 12 29 ATP1A3
2 Generalized Dystonia 29

Anatomical Context for Dystonia 12

MalaCards organs/tissues related to Dystonia 12:

40
Globus Pallidus, Subthalamic Nucleus, Cortex, Cerebellum, Brain, Thalamus

Publications for Dystonia 12

Articles related to Dystonia 12:

(show top 50) (show all 110)
# Title Authors PMID Year
1
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. 61 57 6
17282997 2007
2
Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13. 57 6 61
15390049 2004
3
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. 6 57 61
15260953 2004
4
ATP1A3 Mutation in Adult Rapid-Onset Ataxia. 57 6
26990090 2016
5
The expanding clinical and genetic spectrum of ATP1A3-related disorders. 6 57
24523486 2014
6
Case records of the Massachusetts General Hospital. Case 17-2010 - a 29-year-old woman with flexion of the left hand and foot and difficulty speaking. 6 57
20558373 2010
7
Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. 6 57
19652145 2009
8
A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. 6 57
19351654 2009
9
Rapid-onset dystonia-parkinsonism: a clinical and genetic analysis of a new kindred. 57 6
11061257 2000
10
Rapid-onset dystonia-parkinsonism in a second family. 57 6
9109901 1997
11
Rapid-onset dystonia-parkinsonism. 6 57
8255463 1993
12
[A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review]. 61 6
28441826 2017
13
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 61 6
24468074 2014
14
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. 6 61
22924536 2012
15
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. 61 6
22850527 2012
16
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study. 57
32913013 2020
17
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
18
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. 6
32963807 2020
19
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations. 6
29397530 2018
20
A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever. 6
29066118 2018
21
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing. 6
28849312 2017
22
A Portuguese rapid-onset dystonia-parkinsonism case with atypical features. 6
28500446 2017
23
Mosaicism in ATP1A3-related disorders: not just a theoretical risk. 6
27726050 2017
24
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. 6
27634470 2016
25
Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum. 6
27268479 2016
26
Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation. 6
27146299 2016
27
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 6
26993267 2016
28
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. 6
26400718 2015
29
CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation. 6
26453127 2015
30
CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene. 6
25895915 2015
31
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. 6
26297560 2015
32
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. 6
26410222 2015
33
A functional correlate of severity in alternating hemiplegia of childhood. 6
25681536 2015
34
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. 6
25447930 2015
35
Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization. 6
25523819 2015
36
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. 6
25996915 2015
37
Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. 6
24996492 2014
38
Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome. 6
25056583 2014
39
Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding. 6
24631656 2014
40
Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism. 6
24793181 2014
41
Genotype-phenotype correlations in alternating hemiplegia of childhood. 6
24431296 2014
42
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. 6
24842602 2014
43
Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status. 6
24100174 2014
44
The multiple faces of the ATP1A3-related dystonic movement disorder. 6
23483595 2013
45
Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood. 6
23681173 2013
46
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. 6
23409136 2013
47
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. 6
22842232 2012
48
New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism. 6
22534615 2012
49
The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site. 6
20576601 2010
50
ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism. 6
17595045 2007

Variations for Dystonia 12

ClinVar genetic disease variations for Dystonia 12:

6 (show top 50) (show all 332)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP1A3 NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser) SNV Pathogenic 225200 rs869320661 GRCh37: 19:42489117-42489117
GRCh38: 19:41984965-41984965
2 ATP1A3 NM_152296.5(ATP1A3):c.2408G>A (p.Gly803Asp) SNV Pathogenic 468598 rs1555859571 GRCh37: 19:42474550-42474550
GRCh38: 19:41970398-41970398
3 KMT2B NM_014727.3(KMT2B):c.6517_6518insA (p.Arg2173fs) Insertion Pathogenic 813004 rs1599695744 GRCh37: 19:36223967-36223968
GRCh38: 19:35733066-35733067
4 ATP1A3 NM_152296.5(ATP1A3):c.2542+1G>C SNV Pathogenic 846620 GRCh37: 19:42474336-42474336
GRCh38: 19:41970184-41970184
5 ATP1A3 NM_152296.5(ATP1A3):c.954C>G (p.Ile318Met) SNV Pathogenic 929469 GRCh37: 19:42489109-42489109
GRCh38: 19:41984957-41984957
6 ATP1A3 NM_152296.5(ATP1A3):c.2315G>A (p.Ser772Asn) SNV Pathogenic 421593 rs1064795234 GRCh37: 19:42474643-42474643
GRCh38: 19:41970491-41970491
7 ATP1A3 NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) SNV Pathogenic 689735 rs398122887 GRCh37: 19:42471896-42471896
GRCh38: 19:41967744-41967744
8 ATP1A3 NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) SNV Pathogenic 12915 rs267606670 GRCh37: 19:42472989-42472989
GRCh38: 19:41968837-41968837
9 ATP1A3 NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) SNV Pathogenic 12915 rs267606670 GRCh37: 19:42472989-42472989
GRCh38: 19:41968837-41968837
10 ATP1A3 NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) SNV Pathogenic 425189 rs1064797245 GRCh37: 19:42474692-42474692
GRCh38: 19:41970540-41970540
11 ATP1A3 NM_152296.5(ATP1A3):c.2767G>T (p.Asp923Tyr) SNV Pathogenic 161148 rs267606670 GRCh37: 19:42472989-42472989
GRCh38: 19:41968837-41968837
12 ATP1A3 NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met) SNV Pathogenic 12909 GRCh37: 19:42482193-42482193
GRCh38: 19:41978041-41978041
13 ATP1A3 NM_152296.5(ATP1A3):c.821T>C (p.Ile274Thr) SNV Pathogenic 12910 rs80356532 GRCh37: 19:42489242-42489242
GRCh38: 19:41985090-41985090
14 ATP1A3 NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys) SNV Pathogenic 12911 rs80356533 GRCh37: 19:42489234-42489234
GRCh38: 19:41985082-41985082
15 ATP1A3 NM_152296.5(ATP1A3):c.2273T>G (p.Ile758Ser) SNV Pathogenic 12912 rs80356535 GRCh37: 19:42474685-42474685
GRCh38: 19:41970533-41970533
16 ATP1A3 NM_152296.5(ATP1A3):c.2338T>C (p.Phe780Leu) SNV Pathogenic 12913 rs80356536 GRCh37: 19:42474620-42474620
GRCh38: 19:41970468-41970468
17 ATP1A3 NM_152296.5(ATP1A3):c.2401G>T (p.Asp801Tyr) SNV Pathogenic 12914 rs80356537 GRCh37: 19:42474557-42474557
GRCh38: 19:41970405-41970405
18 ATP1A3 NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe) SNV Pathogenic 65759 rs397515577 GRCh37: 19:42480611-42480611
GRCh38: 19:41976459-41976459
19 ATP1A3 NM_152296.5(ATP1A3):c.976_978CTG[1] (p.Leu327del) Microsatellite Pathogenic 161126 rs397515578 GRCh37: 19:42489082-42489084
GRCh38: 19:41984930-41984932
20 ATP1A3 NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) SNV Pathogenic 161134 rs606231435 GRCh37: 19:42474691-42474691
GRCh38: 19:41970539-41970539
21 ATP1A3 NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp) SNV Pathogenic 161146 rs606231442 GRCh37: 19:42473675-42473675
GRCh38: 19:41969523-41969523
22 ATP1A3 NM_152296.5(ATP1A3):c.3035_3037ACT[3] (p.Tyr1013dup) Microsatellite Pathogenic 161154 rs397515382 GRCh37: 19:42471090-42471091
GRCh38: 19:41966938-41966939
23 ATP1A3 NM_152296.5(ATP1A3):c.1109C>A (p.Thr370Asn) SNV Pathogenic 161155 rs573535377 GRCh37: 19:42486143-42486143
GRCh38: 19:41981991-41981991
24 ATP1A3 NM_152296.5(ATP1A3):c.1144T>C (p.Trp382Arg) SNV Pathogenic 161156 rs606231448 GRCh37: 19:42486108-42486108
GRCh38: 19:41981956-41981956
25 ATP1A3 NM_152296.5(ATP1A3):c.1250T>C (p.Leu417Pro) SNV Pathogenic 161157 rs606231449 GRCh37: 19:42485926-42485926
GRCh38: 19:41981774-41981774
26 ATP1A3 NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) SNV Pathogenic 156238 rs587777771 GRCh37: 19:42474427-42474427
GRCh38: 19:41970275-41970275
27 ATP1A3 NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) SNV Pathogenic 37108 rs387907281 GRCh37: 19:42474436-42474436
GRCh38: 19:41970284-41970284
28 ATP1A3 NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) SNV Pathogenic 37110 rs398122887 GRCh37: 19:42471896-42471896
GRCh38: 19:41967744-41967744
29 ATP1A3 NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) SNV Pathogenic 37107 GRCh37: 19:42474557-42474557
GRCh38: 19:41970405-41970405
30 ATP1A3 NM_152296.5(ATP1A3):c.2431T>C (p.Ser811Pro) SNV Pathogenic 37109 rs387907282 GRCh37: 19:42474448-42474448
GRCh38: 19:41970296-41970296
31 ATP1A3 NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn) SNV Pathogenic 37107 GRCh37: 19:42474557-42474557
GRCh38: 19:41970405-41970405
32 ATP1A3 NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) SNV Pathogenic 37110 rs398122887 GRCh37: 19:42471896-42471896
GRCh38: 19:41967744-41967744
33 ATP1A3 NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) SNV Pathogenic 37108 rs387907281 GRCh37: 19:42474436-42474436
GRCh38: 19:41970284-41970284
34 ATP1A3 NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys) SNV Pathogenic 161133 rs557052809 GRCh37: 19:42479781-42479781
GRCh38: 19:41975629-41975629
35 ATP1A3 NM_152296.5(ATP1A3):c.2752_2754GTC[1] (p.Val919del) Microsatellite Pathogenic 161147 rs606231443 GRCh37: 19:42472999-42473001
GRCh38: 19:41968847-41968849
36 ATP1A3 NM_152296.5(ATP1A3):c.2415C>G (p.Asp805Glu) SNV Pathogenic 161141 rs606231439 GRCh37: 19:42474543-42474543
GRCh38: 19:41970391-41970391
37 ATP1A3 NM_152296.5(ATP1A3):c.410C>A (p.Ser137Tyr) SNV Pathogenic 161121 rs542652468 GRCh37: 19:42490329-42490329
GRCh38: 19:41986177-41986177
38 ATP1A3 NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) SNV Pathogenic 161122 rs542652468 GRCh37: 19:42490329-42490329
GRCh38: 19:41986177-41986177
39 ATP1A3 NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg) SNV Likely pathogenic 161142 rs549006436 GRCh37: 19:42474541-42474541
GRCh38: 19:41970389-41970389
40 ATP1A3 NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) SNV Likely pathogenic 280121 rs886041396 GRCh37: 19:42474634-42474634
GRCh38: 19:41970482-41970482
41 ATP1A3 NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) SNV Likely pathogenic 425189 rs1064797245 GRCh37: 19:42474692-42474692
GRCh38: 19:41970540-41970540
42 ATP1A3 NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro) SNV Likely pathogenic 807378 rs1599706511 GRCh37: 19:42474626-42474626
GRCh38: 19:41970474-41970474
43 ATP1A3 NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) SNV Likely pathogenic 807379 rs1599725621 GRCh37: 19:42492179-42492179
GRCh38: 19:41988027-41988027
44 ATP1A3 NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) SNV Likely pathogenic 689735 rs398122887 GRCh37: 19:42471896-42471896
GRCh38: 19:41967744-41967744
45 ATP1A3 NM_152296.5(ATP1A3):c.658G>A (p.Asp220Asn) SNV Likely pathogenic 941117 GRCh37: 19:42489524-42489524
GRCh38: 19:41985372-41985372
46 KMT2B NM_014727.2(KMT2B):c.4955G>A (p.Gly1652Asp) SNV Likely pathogenic 549493 rs1555731832 GRCh37: 19:36220905-36220905
GRCh38: 19:35730004-35730004
47 ATP1A3 NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu) SNV Likely pathogenic 803563 rs1599712456 GRCh37: 19:42479792-42479792
GRCh38: 19:41975640-41975640
48 ATP1A3 NM_152296.5(ATP1A3):c.2195C>A (p.Ser732Tyr) SNV Likely pathogenic 803564 rs1599712523 GRCh37: 19:42479849-42479849
GRCh38: 19:41975697-41975697
49 ATP1A3 NM_152296.5(ATP1A3):c.1036T>C (p.Cys346Arg) SNV Likely pathogenic 803565 rs1599719534 GRCh37: 19:42486216-42486216
GRCh38: 19:41982064-41982064
50 ATP1A3 NM_152296.5(ATP1A3):c.2677G>C (p.Gly893Arg) SNV Likely pathogenic 581802 rs1568853466 GRCh37: 19:42473598-42473598
GRCh38: 19:41969446-41969446

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 12:

72
# Symbol AA change Variation ID SNP ID
1 ATP1A3 p.Ile274Thr VAR_026735 rs80356532
2 ATP1A3 p.Glu277Lys VAR_026736 rs80356533
3 ATP1A3 p.Thr613Met VAR_026737 rs80356534
4 ATP1A3 p.Ile758Ser VAR_026738 rs80356535
5 ATP1A3 p.Phe780Leu VAR_026739 rs80356536
6 ATP1A3 p.Asp801Tyr VAR_026740 rs80356537
7 ATP1A3 p.Asp923Asn VAR_068949 rs267606670

Expression for Dystonia 12

Search GEO for disease gene expression data for Dystonia 12.

Pathways for Dystonia 12

Pathways related to Dystonia 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.56 TOR1A PRKN PINK1 ATXN1 ATP13A2

GO Terms for Dystonia 12

Cellular components related to Dystonia 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.63 TOR1A SLC2A1 PRKN CACNA1A ATP1A3 ATCAY
2 presynapse GO:0098793 9.26 SLC2A1 PRKN CACNA1A ATCAY
3 Lewy body GO:0097413 8.62 PRKN PINK1

Biological processes related to Dystonia 12 according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.98 SLC39A14 SLC30A10 SLC2A1 CACNA1A ANO3
2 ion transmembrane transport GO:0034220 9.86 CACNA1A ATP1A3 ATP13A2 ANO3
3 response to oxidative stress GO:0006979 9.77 TOR1A PRKN PINK1
4 negative regulation of neuron death GO:1901215 9.65 PRKN PINK1 ATP13A2
5 negative regulation of reactive oxygen species metabolic process GO:2000378 9.61 PRKN PINK1
6 regulation of reactive oxygen species metabolic process GO:2000377 9.61 PRKN PINK1
7 zinc ion transmembrane transport GO:0071577 9.59 SLC39A14 SLC30A10
8 regulation of protein ubiquitination GO:0031396 9.58 PRKN PINK1
9 positive regulation of mitochondrial fission GO:0090141 9.57 PRKN PINK1
10 regulation of autophagy of mitochondrion GO:1903146 9.55 PINK1 ATP13A2
11 negative regulation of oxidative stress-induced cell death GO:1903202 9.54 PRKN PINK1
12 manganese ion transmembrane transport GO:0071421 9.52 SLC39A14 SLC30A10
13 cellular response to manganese ion GO:0071287 9.51 PRKN ATP13A2
14 regulation of cellular response to oxidative stress GO:1900407 9.49 PRKN PINK1
15 regulation of protein targeting to mitochondrion GO:1903214 9.46 PRKN PINK1
16 nuclear membrane organization GO:0071763 9.43 TOR1B TOR1A
17 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.4 PRKN PINK1
18 cellular response to toxic substance GO:0097237 9.37 PRKN PINK1
19 zinc ion homeostasis GO:0055069 9.32 PRKN ATP13A2
20 regulation of synaptic vesicle transport GO:1902803 9.26 PRKN PINK1
21 mitochondrion to lysosome transport GO:0099074 9.16 PRKN PINK1
22 cellular zinc ion homeostasis GO:0006882 9.13 SLC39A14 SLC30A10 ATP13A2
23 regulation of mitochondrion organization GO:0010821 8.8 PRKN PINK1 ATP13A2

Molecular functions related to Dystonia 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysine-acetylated histone binding GO:0070577 9.16 TAF1L TAF1
2 manganese ion transmembrane transporter activity GO:0005384 8.96 SLC39A14 SLC30A10
3 kinesin binding GO:0019894 8.8 TOR1B TOR1A ATCAY

Sources for Dystonia 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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