ADSD2
MCID: STR092
MIFTS: 44

Striatal Degeneration, Autosomal Dominant 2 (ADSD2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Striatal Degeneration, Autosomal Dominant 2

MalaCards integrated aliases for Striatal Degeneration, Autosomal Dominant 2:

Name: Striatal Degeneration, Autosomal Dominant 2 57 72 29 6
Adsd2 57 72
Childhood-Onset Benign Chorea with Striatal Involvement 58
Degeneration, Striatal, Autosomal Dominant, Type 2 39
Striatal Degeneration, Autosomal Dominant 57
Hyperactive Behavior 70
Hyperkinesis 44

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
nonprogressive
de novo mutation
onset between 5 and 10 years of age
three unrelated patients have been reported (last curated april 2016)

Inheritance:
autosomal dominant


HPO:

31
striatal degeneration, autosomal dominant 2:
Inheritance autosomal dominant inheritance
Onset and clinical course nonprogressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 616922
OMIM Phenotypic Series 57 PS609161
Orphanet 58 ORPHA494541
UMLS 70 C0424295

Summaries for Striatal Degeneration, Autosomal Dominant 2

OMIM® : 57 Autosomal dominant striatal degeneration-2 is a neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive (summary by Mencacci et al., 2016). For a discussion of genetic heterogeneity of ADSD, see ADSD1 (609161). (616922) (Updated 05-Apr-2021)

MalaCards based summary : Striatal Degeneration, Autosomal Dominant 2, also known as adsd2, is related to choreatic disease and striatal degeneration, autosomal dominant 1, and has symptoms including ataxia, tremor and myoclonus. An important gene associated with Striatal Degeneration, Autosomal Dominant 2 is PDE10A (Phosphodiesterase 10A). The drugs Ziprasidone and Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include cortex, prefrontal cortex and brain, and related phenotypes are chorea and striatal t2 hyperintensity

UniProtKB/Swiss-Prot : 72 Striatal degeneration, autosomal dominant 2: An autosomal dominant disorder characterized by striatal degeneration and dysfunction of basal ganglia, resulting in hyperkinesis.

Related Diseases for Striatal Degeneration, Autosomal Dominant 2

Diseases in the Striatal Degeneration, Autosomal Dominant 2 family:

Striatal Degeneration, Autosomal Dominant 1

Diseases related to Striatal Degeneration, Autosomal Dominant 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 choreatic disease 29.4 PDE10A AFG3L2
2 striatal degeneration, autosomal dominant 1 11.9
3 dyskinesia, limb and orofacial, infantile-onset 10.9
4 learning disability 10.2
5 attention deficit-hyperactivity disorder 10.1
6 facial paralysis 10.1
7 torticollis 10.0
8 chorea, childhood-onset, with psychomotor retardation 10.0
9 parkinsonism 10.0
10 coronary stenosis 10.0
11 dystonia 10.0
12 acute myocardial infarction 10.0
13 athetosis 10.0
14 coloboma of macula 9.9
15 systemic lupus erythematosus 9.9
16 branchiootic syndrome 1 9.9
17 blepharospasm 9.9
18 arteries, anomalies of 9.8
19 atrial standstill 1 9.8
20 cleft soft palate 9.8
21 glioma susceptibility 1 9.8
22 melkersson-rosenthal syndrome 9.8
23 pick disease of brain 9.8
24 ocular motor apraxia 9.8
25 tardive dyskinesia 9.8
26 graves disease 1 9.8
27 fragile x syndrome 9.8
28 stroke, ischemic 9.8
29 alacrima, achalasia, and mental retardation syndrome 9.8
30 lipoprotein quantitative trait locus 9.8
31 proteinuria, chronic benign 9.8
32 west syndrome 9.8
33 cervical dystonia 9.8
34 transverse myelitis 9.8
35 x-linked alport syndrome 9.8
36 tonsillitis 9.8
37 chronic pyelonephritis 9.8
38 portal hypertension 9.8
39 alport syndrome 9.8
40 pyelonephritis 9.8
41 nephrotic syndrome 9.8
42 allergic disease 9.8
43 pica disease 9.8
44 bell's palsy 9.8
45 acoustic neuroma 9.8
46 epilepsy 9.8
47 cerebral palsy 9.8
48 neuroma 9.8
49 constipation 9.8
50 glomus tumor 9.8

Graphical network of the top 20 diseases related to Striatal Degeneration, Autosomal Dominant 2:



Diseases related to Striatal Degeneration, Autosomal Dominant 2

Symptoms & Phenotypes for Striatal Degeneration, Autosomal Dominant 2

Human phenotypes related to Striatal Degeneration, Autosomal Dominant 2:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002072
2 striatal t2 hyperintensity 58 31 frequent (33%) Frequent (79-30%) HP:0031206
3 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
4 parkinsonism with favorable response to dopaminergic medication 58 31 occasional (7.5%) Occasional (29-5%) HP:0002548
5 abnormal corpus striatum morphology 58 31 Frequent (79-30%) HP:0010994
6 intellectual disability 31 HP:0001249
7 mental deterioration 31 HP:0001268
8 delayed gross motor development 58 Excluded (0%)
9 dementia 58 Excluded (0%)
10 parkinsonism 31 HP:0001300

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
chorea
striatal t2-weighted hyperintensities seen on mri
striatal atrophy (later)
striatal swelling (early)

Clinical features from OMIM®:

616922 (Updated 05-Apr-2021)

UMLS symptoms related to Striatal Degeneration, Autosomal Dominant 2:


ataxia; tremor; myoclonus; involuntary movements; dystonia; restlessness; athetosis; agitation; myokymia; muscle fibrillation; asterixis; mental and behavioral signs and symptoms; symptoms; nervousness; spasm; akathisia; synkinesis; motor restlessness; hyperkinesia, generalized

Drugs & Therapeutics for Striatal Degeneration, Autosomal Dominant 2

Drugs for Striatal Degeneration, Autosomal Dominant 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 270)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ziprasidone Approved Phase 4 146939-27-7 60854
2
Lithium carbonate Approved Phase 4 554-13-2
3
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4
Sertraline Approved Phase 4 79617-96-2 68617
5
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
6
Topiramate Approved Phase 4 97240-79-4 5284627
7
tannic acid Approved Phase 4 1401-55-4
8
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
9
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
10
Clonidine Approved Phase 4 4205-90-7 2803
11
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
12
Cyclobenzaprine Approved Phase 4 303-53-7 2895
13
Ibuprofen Approved Phase 4 15687-27-1 3672
14
Nicotine Approved Phase 4 54-11-5 942 89594
15
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
16
Norepinephrine Approved Phase 4 51-41-2 439260
17
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
18
Cyproheptadine Approved Phase 4 129-03-3 2913
19
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
20
Viloxazine Approved, Investigational, Withdrawn Phase 4 46817-91-8
21
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
22
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
23
Ethanol Approved Phase 4 64-17-5 702
24
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
25
Fluoxymesterone Approved, Illicit Phase 4 76-43-7 6446
26
Haloperidol Approved Phase 4 52-86-8 3559
27
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
28
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
29
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
30 Antimalarials Phase 4
31 Antiparasitic Agents Phase 4
32 Antiprotozoal Agents Phase 4
33 Solifenacin succinate Phase 4 242478-38-2
34 Muscarinic Antagonists Phase 4
35 Cholinergic Antagonists Phase 4
36 Dopamine agonists Phase 4
37 adderall Phase 4
38 Omega 3 Fatty Acid Phase 4
39 Analgesics Phase 4
40 Dexmethylphenidate Hydrochloride Phase 4
41 Psychotropic Drugs Phase 4
42 Serotonin Receptor Agonists Phase 4
43 Serotonin 5-HT1 Receptor Agonists Phase 4
44 Antidepressive Agents Phase 4
45 Sympatholytics Phase 4
46 Cytochrome P-450 Enzyme Inhibitors Phase 4
47 Antidepressive Agents, Tricyclic Phase 4
48
Histamine Phosphate Phase 4 51-74-1 65513
49 Vasoconstrictor Agents Phase 4
50 Dermatologic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 688)
# Name Status NCT ID Phase Drugs
1 Aggressive Behaviour in Children With Tourette's Syndrome (TS) and Comorbid Attention Deficit Hyperactivity Disorder (ADHD) Unknown status NCT00152750 Phase 4 APO-clonidine
2 Effects of a Probiotic Supplement on Symptoms of ADHD and Anxiety in Children Unknown status NCT02545634 Phase 4
3 International Study to Predict Optimised Treatment Response to Short or Long Acting Methylphenidate in Children and Adolescents With Attention Deficit/Hyperactivity Disorder. Unknown status NCT00863499 Phase 4 Short Acting Methylphenidate;Long Acting Methylphenidate
4 A Study to Identify the Peripheral Biomarkers of Symptomatology, Neurocognitive Functions, and Medication Response in Attention Deficit Hyperactivity Disorder Unknown status NCT02074228 Phase 4 Methylphenidate (Concerta)
5 Comparing Treatment With Melatonin to Treatment With Stimulants (Methylphenidate) in Children With Attention Deficit Hyperactivity Disorder and Sleep Difficulties Unknown status NCT01393574 Phase 4 Melatonin;Methylphenidate
6 Study of Associated Gene Polymorphisms With Atomoxetine Response Prediction in ADHD Treatment Unknown status NCT01339286 Phase 4 atomoxetine
7 A Randomized, Double-Blind, Placebo-Controlled, Flexible-Dose Titration Study of Aptensio XR® in Children Ages 4 to Under 6 Years Diagnosed With Attention Deficit-Hyperactivity Disorder (ADHD) Unknown status NCT02683265 Phase 4 Aptensio XR;Placebo
8 Comprehensive Pathophysiological Study Based on the Core Neurocognitive Deficits and Development of Biological Markers of Treatment Response in Attention Deficit Hyperactivity Disorder Unknown status NCT02623114 Phase 4 methylphenidate;atomoxetine
9 Assessment and Follow Up Study of Children and Adolescent With Bipolar Disorder Unknown status NCT01000402 Phase 4 Psychopharmacotherapy
10 A 12-Month Open Label Safety Study of Methylphenidate Hydrochloride Extended-Release Capsules (Aptensio XR®) in Children Ages 4-5 Years Diagnosed With Attention-Deficit/Hyperactivity Disorder (ADHD) Unknown status NCT02677519 Phase 4 Aptensio XR
11 A Cognitive Behavioral Therapy Group Intervention for Adolescents With Attention-Deficit / Hyperactivity Disorder Unknown status NCT02566824 Phase 4 Methylphenidate or amphetamine product
12 Functional Brain Markers and Predictors of Treatment Response Associated With Norepinephrine System Genes in ADHD Unknown status NCT00862108 Phase 4 Methylphenidate
13 Adjunctive Treatment With Divalproex or Risperidone for Aggression Refractory to Stimulant Monotherapy Among Children With ADHD Unknown status NCT00794625 Phase 4 Valproate;Risperidone;Placebo;Stimulant medication
14 Peripheral Transcutaneous Neuromodulation of the Post-tibial Nerve (T-PTNS) for Solifenacin 10 mg. in the Treatment of Hyperactive Bladder Syndrome: no Inferiority Phase IV Randomized Clinical Trial Unknown status NCT03468465 Phase 4 Solifenacin Succinate
15 Association Between Motorcycle Accidents, Attention Deficit/Hyperactivity Disorder and Substance Use Disorder and Motorcycle Accidents Unknown status NCT00536419 Phase 4 Methylphenidate
16 A 3 Month Open-Label Study of Atomoxetine in Children With Attention-Deficit/Hyperactivity Disorder; Symptomatic and Functional Outcomes. Completed NCT00191633 Phase 4 Atomoxetine
17 Measuring and Predicting Response to Atomoxetine and Methylphenidate Completed NCT00183391 Phase 4 Atomoxetine;Methylphenidate
18 Clinical and Pharmacogenetic Study of Attention Deficit With Hyperactivity Disorder (ADHD) Completed NCT00483106 Phase 4 Ritalin;Placebo
19 An Open-Label, Multicenter, Pilot Study of the Safety and Efficacy of Transitioning From a Stimulant Medication to Atomoxetine in Pediatric and Adolescent Outpatients With DSM-IV Attention-Deficit/Hyperactivity Disorder (ADHD) Completed NCT00485875 Phase 4 Atomoxetine Hydrochloride
20 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
21 COST-EFFECTIVENESS STUDY OF THE TREATMENT OF ATTENTION DEFICIT/HYPERACTIVITY DISORDER IN BRAZIL Completed NCT01228604 Phase 4 methylphenidate (Ritalin®)
22 Early Interventions in Children With Attention Deficit/Hyperactivity Disorder: Randomized Controlled Trial Comparing Methylphenidate Parental Training in Treating Preschool Children With Attention Deficit / Hyperactivity Disorder Completed NCT02807870 Phase 4 Methylphenidate;Placebo pill
23 Diagnostic Utility of ADHD by Brain Activity Flow Patterns Analysis Using Evoked Response Potentials Completed NCT01063153 Phase 4 Osmotic Release Methylphenidate
24 Efficacy and Learning Skill After OROS Methylphenidate Treatment in Adolescents With Attention-Deficit/Hyperactivity Disorder: A 12-week, Multi-center, Open-label Study Completed NCT01060150 Phase 4 OROS Methylphenidate HCl
25 An Eight-Week, Randomized, Double-Blind Comparison of Guanfacine, Focalin XR, and the Combination, With a Twelve Month Open-Label Extension for the Treatment of ADHD in Pediatric Subjects Aged 7 to 14 Years Completed NCT00429273 Phase 4 Guanfacine;Methylphenidate (MPH)
26 A Randomized, Double-Blind Comparison of Atomoxetine Versus Placebo in Children and Adolescents With Attention-Deficit/Hyperactivity Disorder and Comorbid Oppositional Defiant Disorder Completed NCT00406354 Phase 4 Atomoxetine;Placebo
27 A Randomized, Double-Blind Comparison of the Time Course of Response to Two Extended-Release Oral Delivery Systems for Methylphenidate in Pediatric Patients With Attention Deficit Hyperactivity Disorder in an Analog Classroom Setting: The CoMACS Study Completed NCT00381758 Phase 4 Methylphenidate Extended Release Capsules
28 Double Blind, Placebo Controlled, Crossover Study of Extended Release Methylphenidate for Treatment of ADHD in Children With Epilepsy Completed NCT00323947 Phase 4 Extended Release Methylphenidate (OROS-Methylphenidate)
29 Aripiprazole Associated With Methylphenidate in Children and Adolescents With Bipolar Disorder and ADHD: A Randomized Cross-Over Placebo Controlled Trial Completed NCT00305370 Phase 4 Aripiprazole
30 Long-Duration Stimulant Treatment of ADHD in Young Children-Feasibility Study Completed NCT00257725 Phase 4 B-MPH
31 Pharmacological Treatment of ADHD in Young Children Completed NCT00254462 Phase 4 Atomoxetine;Placebo
32 Multimodal Treatment Study of Children With ADHD Completed NCT00000388 Phase 4 Anti-ADHD medication
33 A 40-Week, Phase 4, Double-Blind, Placebo-Controlled, Multicenter, Randomized-Withdrawal Study to Evaluate the Long-Term Efficacy and Safety of KAPVAY™ (Clonidine Hydrochloride) Extended-Release in Children and Adolescents With ADHD Completed NCT01439126 Phase 4 clonidine hydrochloride;Placebo
34 An Open-Label Study of Naltrexone in Adults With Attention Deficit Hyperactivity Disorder. Completed NCT01873729 Phase 4 Naltrexone
35 Influence of Stimulant Medication on Brain Processes for Decision Making in Attention Deficit Hyperactivity Disorder Completed NCT01831622 Phase 4 Ritalin;Placebo
36 Language-based Learning Skills and ADHD: Impact of Treatment With Sustained-release Guanfacine Completed NCT01146002 Phase 4 Guanfacine (sustained release)
37 Evaluation of Pharmacokinetics and Profile of Clinical Response of Subacute Lisdexamfetamine Dimesylate (Vyvanse) Treatment vs. Clinical Response to Subacute Immediate Release Mixed Amphetamine Salt Therapy in Adult ADHD Completed NCT01070394 Phase 4 LDX Treatment
38 Randomized Control Study of Concerta and Strattera on the Improvement of Executive Function in Attention Deficit Hyperactivity Disorder Children Completed NCT01065259 Phase 4 OROS MPH;Atomoxetine
39 Electrophysiological Effects of Guanfacine Extended-Release (GXR) on Inhibitory Control in Children With Attention Deficit/Hyperactivity Disorder (ADHD) Completed NCT01069523 Phase 4 Guanfacine Extended Release;Placebo
40 A Phase IV, Multi-center, Open-label Study of DAYTRANA (Methylphenidate Transdermal System [MTS]) to Characterize the Dermal Reactions in Pediatric Patients Aged 6-12 With Attention Deficit/Hyperactivity Disorder (ADHD). Completed NCT00434213 Phase 4 Daytrana
41 A Randomized, Double-blind Comparison of Atomoxetine Hydrochloride and Placebo for Symptoms of Attention-Deficit/Hyperactivity Disorder in Children and Adolescents With Autism Spectrum Disorder Completed NCT00380692 Phase 4 Atomoxetine;Placebo
42 The Cognitive Effects of Aripiprazole in Children Completed NCT00221962 Phase 4 Aripiprazole
43 Pharmacokinetic Study of DYANAVEL XR (Amphetamine) Extended-release Oral Suspension, in Children Aged 4 to 5 Years With Attention-deficit/Hyperactivity Disorder Completed NCT03610464 Phase 4 Amphetamine Extended Release Suspension [Dyanavel]
44 Flexeril� (Cyclobenzaprine Hydrochloride) Community Based Study - An Evaluation of Cyclobenzaprine HCl Monotherapy and in Combination With Ibuprofen for Acute Back or Neck Muscle Pain With Muscle Spasm Completed NCT00246389 Phase 4 cyclobenzaprine hydrochloride
45 Double-Blind, Placebo-Controlled Trial of Flexible Dose Divalproex Sodium Adjunctive to Stimulant Treatment for Aggressive Children With Attention-Deficit Hyperactivity Disorder Completed NCT00228046 Phase 4 Divalproex Sodium;Methylphenidate;Dextroamphetamine;Mixed Amphetamine Salts
46 Atomoxetine in Adolescents With Attention Deficit Hyperactivity Disorder (ADHD) and Substance Use Disorder (SUD) Completed NCT00218322 Phase 4 Atomoxetine hydrochloride;Placebo
47 An Open-Label Pilot Study of Atomoxetine Hydrochloride to Evaluate Neuropsychological Function in Children Ages 6 to 10 Years With Attention-Deficit/Hyperactivity Disorder. Completed NCT00216918 Phase 4 Atomoxetine Hydrochloride
48 A Randomized, Double-Blind, Crossover Comparison of Atomoxetine and Placebo in Child Outpatients With Attention-Deficit/Hyperactivity Disorder, Reading Disorder, or Comorbid Attention-Deficit/Hyperactivity Disorder and Reading Disorder. Completed NCT00191906 Phase 4 Atomoxetine Hydrochloride;placebo
49 Open-Label Treatment With Atomoxetine Hydrochloride in Child and Adolescents With Attention-Deficit/Hyperactivity Disorder and Comorbid Dyslexia Completed NCT00191048 Phase 4 Atomoxetine
50 A Double-Blind Study of Functional Outcomes With Atomoxetine-Hydrochloride and Placebo in Adult Outpatients With DSM-IV Attention-Deficit/Hyperactivity Disorder Completed NCT00190931 Phase 4 Atomoxetine Hydrochloride;placebo

Search NIH Clinical Center for Striatal Degeneration, Autosomal Dominant 2

Cochrane evidence based reviews: hyperkinesis

Genetic Tests for Striatal Degeneration, Autosomal Dominant 2

Genetic tests related to Striatal Degeneration, Autosomal Dominant 2:

# Genetic test Affiliating Genes
1 Striatal Degeneration, Autosomal Dominant 2 29 PDE10A

Anatomical Context for Striatal Degeneration, Autosomal Dominant 2

MalaCards organs/tissues related to Striatal Degeneration, Autosomal Dominant 2:

40
Cortex, Prefrontal Cortex, Brain, Liver, Eye, Heart, Cingulate Cortex

Publications for Striatal Degeneration, Autosomal Dominant 2

Articles related to Striatal Degeneration, Autosomal Dominant 2:

(show top 50) (show all 731)
# Title Authors PMID Year
1
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. 57 6
27058447 2016
2
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 6
32219868 2020
3
Takotsubo cardiomyopathy complicating acute pancreatitis: a case report. 61
33757444 2021
4
Dynamic left ventricular outflow tract obstruction in a patient with acute coronary syndrome and without the apical akinesia: Potential alternative mechanisms causing a dynamic left ventricular outflow tract obstruction other than a compensatory basal hyperkinesis. 61
33629388 2021
5
Long-term therapy with botulinum toxin in facial synkinesis: Retrospective data analysis of data from 1998 to 2018. 61
33534183 2021
6
A case report of coronary artery spasm and takotsubo syndrome: exploring the hidden side of the moon. 61
33554017 2021
7
Takotsubo cardiomyopathy associated with bronchoscopic operation: A case report. 61
33392339 2020
8
Takotsubo Cardiomyopathy and LV Outflow Tract Obstruction after Initiation of Novel Oral Chemotherapy. 61
33261234 2020
9
Advanced cardiac magnetic resonance imaging in takotsubo cardiomyopathy. 61
32795180 2020
10
Mirtazapine-associated movement disorders: A literature review. 61
33163376 2020
11
Chlorpyrifos inhibits nitrogen fixation in rice-vegetated soil containing Pseudomonas stutzeri A1501. 61
32470732 2020
12
A Case of Neuromuscular Electrical Stimulation for Childhood Stroke Hyperkinesis: A Brief Report. 61
32508229 2020
13
A novel case of reverse Takotsubo cardiomyopathy following brain biopsy. 61
32594548 2020
14
"Incompatible Housemates": Hypertrophic Obstructive Cardiomyopathy and Takotsubo Syndrome. 61
31813917 2020
15
Ventricular Fibrillation Induced by Takotsubo Syndrome with Congenital Long QT Syndrome. 61
31787694 2020
16
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature. 61
31879735 2020
17
[Cervical myelopathy in the hyperkinetic form of cerebral palsy: combination of botulinum therapy with surgical treatment]. 61
32307417 2020
18
Rare Association of Takotsubo Cardiomyopathy with Right Bundle Branch Block in the Dual Setting of Asthma Exacerbation and Psychiatric Illness. 61
31959739 2020
19
Hemichorea-Hemiballismus as an Unusual Presentation of Hyperosmolar Hyperglycemic Syndrome. 61
32432159 2020
20
New-generation antiepileptic drugs during pregnancy and the risk of attention-deficit hyperactivity disorder: A scoping review. 61
33084259 2020
21
Diagnostic Performance of Dobutamine Stress Echocardiography in End-Stage Liver Disease. 61
30660519 2019
22
A case of esophagogastroduodenoscopy induced Takotsubo cardiomyopathy with complete heart block. 61
30904984 2019
23
Cannabis-related emergencies in children and teens. 61
31090567 2019
24
Acute encephalopathy with biphasic seizures and late reduced diffusion accompanied by Takotsubo cardiomyopathy. 61
30327157 2019
25
A Case of Reverse Takotsubo Cardiomyopathy Incited by a Spinal Subdural Hematoma. 61
31428488 2019
26
Reverse Takotsubo cardiomyopathy: a comprehensive review. 61
30603648 2018
27
Diencephalic Syndrome as Presentation of Giant Childhood Craniopharyngioma: Management Review. 61
30937076 2018
28
Early-life hyperthermic seizures upregulate adenosine A2A receptors in the cortex and promote depressive-like behavior in adult rats. 61
30017837 2018
29
Ventricular Septal Perforation: A Rare but Life-Threatening Complication Associated with Takotsubo Syndrome. 61
29434120 2018
30
Epidemiological study of child and adolescent psychiatric disorders in Lithuania. 61
29699524 2018
31
What Increases the Risk of Dental Traumatism in Patients with Developmental Disabilities? 61
29898061 2018
32
Factors associated with anterior open bite in children with developmental disabilities. 61
29278267 2018
33
[Takotsubo cardiomyopathy developing during anagrelide therapy in a patient with essential thrombocythemia]. 61
30626797 2018
34
Association between ibrutinib and mid-cavitary Takotsubo cardiomyopathy: a case report and a review of chemotherapy-induced Takostubo's cardiomyopathy. 61
31020065 2017
35
A retrospective cohort study on the risk assessment of newly certificated long-term care need of elderly individuals in a community: Basic checklist and specific health checkup. 61
29255523 2017
36
An objective assessment of botulinum toxin type A injection in the treatment of post-facial palsy synkinesis and hyperkinesis using the synkinesis assessment questionnaire. 61
28688864 2017
37
The misleading electrocardiogram - Midventricular Takotsubo masquerading as anterior wall STEMI. 61
28774770 2017
38
Botulinum toxin treatment for facial palsy: A systematic review. 61
28389084 2017
39
Effect of Centruroides antivenom on reversal of methamphetamine-induced hyperkinesis and hyperthermia in rats. 61
29354652 2017
40
A case of reverse takotsubo cardiomyopathy caused by an eating disorder. 61
30279744 2017
41
[Characteristics of the course of gastric and duodenal ulcer disease concurrent with duodenal insufficiency]. 61
29411764 2017
42
[The efficacy of botulinotherapy in the correction of the pain syndrome and quality of life of patients with cervical dystonia]. 61
29376981 2017
43
[Differential diagnosis of paroxysms of tonic muscle tension in children of early age with delay of psychomotor development and abnormal neurologic status]. 61
28745663 2017
44
Posterior atlantoaxial fusion using a C2 transverse foramen-penetrating screw: A technical note. 61
29184713 2017
45
Child Neurology: Diencephalic syndrome-like presentation of a cervicomedullary brainstem tumor. 61
27872228 2016
46
Genetic and Environmental Influences on the Mental Health of Children: A Twin Study. 61
27479477 2016
47
Left ventricular outflow tract obstruction in ICU patients. 61
27054628 2016
48
Changes in Coronary Blood Flow After Acute Myocardial Infarction: Insights From a Patient Study and an Experimental Porcine Model. 61
27013161 2016
49
Stress Cardiomyopathy Caused by Diving: Case Report and Review of the Literature. 61
26589557 2016
50
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities. 61
26515654 2016

Variations for Striatal Degeneration, Autosomal Dominant 2

ClinVar genetic disease variations for Striatal Degeneration, Autosomal Dominant 2:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDE10A NM_006661.4(PDE10A):c.970T>C (p.Phe324Leu) SNV Pathogenic 225635 rs875989840 GRCh37: 6:165829768-165829768
GRCh38: 6:165416280-165416280
2 PDE10A NM_006661.4(PDE10A):c.868T>C (p.Phe290Leu) SNV Pathogenic 225636 rs875989841 GRCh37: 6:165832223-165832223
GRCh38: 6:165418735-165418735
3 overlap with 22 genes GRCh37/hg19 17p11.2(chr17:16936603-18184130) copy number loss Pathogenic 523258 GRCh37: 17:16936603-18184130
GRCh38:
4 PDE10A NM_001130690.2(PDE10A):c.1001T>G (p.Phe334Cys) SNV Pathogenic 522607 rs1554258695 GRCh37: 6:165829767-165829767
GRCh38: 6:165416279-165416279
5 AFG3L2 NM_006796.3(AFG3L2):c.1064C>T SNV Pathogenic 385335 rs1057522195 GRCh37: 18:12356793-12356793
GRCh38: 18:12356794-12356794
6 PQBP1 NM_144495.2(PQBP1):c.293-341AG[4] Microsatellite Pathogenic 10980 rs606231193 GRCh37: X:48759668-48759671
GRCh38: X:48902391-48902394
7 PDE10A NM_001130690.3(PDE10A):c.544C>T (p.Arg182Ter) SNV Likely pathogenic 804399 rs1583275773 GRCh37: 6:165846611-165846611
GRCh38: 6:165433123-165433123
8 PRRT2 NM_145239.3(PRRT2):c.674A>G (p.Glu225Gly) SNV Uncertain significance 374089 rs1057518890 GRCh37: 16:29825049-29825049
GRCh38: 16:29813728-29813728
9 NF1 NM_000267.3(NF1):c.1987G>A (p.Gly663Arg) SNV Uncertain significance 184278 rs140653372 GRCh37: 17:29552254-29552254
GRCh38: 17:31225236-31225236
10 GLI2 NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser) SNV Uncertain significance 523482 rs1332140763 GRCh37: 2:121746134-121746134
GRCh38: 2:120988558-120988558
11 CNTNAP2 NM_014141.6(CNTNAP2):c.536A>G (p.Tyr179Cys) SNV Likely benign 373992 rs1057518820 GRCh37: 7:146741132-146741132
GRCh38: 7:147044040-147044040

UniProtKB/Swiss-Prot genetic disease variations for Striatal Degeneration, Autosomal Dominant 2:

72
# Symbol AA change Variation ID SNP ID
1 PDE10A p.Phe290Leu VAR_076800 rs875989841
2 PDE10A p.Phe324Leu VAR_076801 rs875989840

Expression for Striatal Degeneration, Autosomal Dominant 2

Search GEO for disease gene expression data for Striatal Degeneration, Autosomal Dominant 2.

Pathways for Striatal Degeneration, Autosomal Dominant 2

GO Terms for Striatal Degeneration, Autosomal Dominant 2

Sources for Striatal Degeneration, Autosomal Dominant 2

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
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
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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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