ADSD2
MCID: STR092
MIFTS: 43

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 56 73 29 6
Adsd2 56 73
Childhood-Onset Benign Chorea with Striatal Involvement 58
Degeneration, Striatal, Autosomal Dominant, Type 2 39
Striatal Degeneration, Autosomal Dominant 56
Hyperactive Behavior 71
Hyperkinesis 43

Characteristics:

OMIM:

56
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 56 616922
OMIM Phenotypic Series 56 PS609161
Orphanet 58 ORPHA494541
UMLS 71 C0424295

Summaries for Striatal Degeneration, Autosomal Dominant 2

OMIM : 56 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)

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

UniProtKB/Swiss-Prot : 73 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 69)
# Related Disease Score Top Affiliating Genes
1 striatal degeneration, autosomal dominant 1 12.9
2 dyskinesia, limb and orofacial, infantile-onset 11.3
3 learning disability 10.3
4 attention deficit-hyperactivity disorder 10.2
5 facial paralysis 10.2
6 torticollis 10.2
7 chorea, childhood-onset, with psychomotor retardation 10.2
8 choreatic disease 10.2
9 coronary stenosis 10.2
10 dystonia 10.2
11 acute myocardial infarction 10.2
12 athetosis 10.2
13 coloboma of macula 10.1
14 systemic lupus erythematosus 10.1
15 branchiootic syndrome 1 10.1
16 epilepsy 10.1
17 blepharospasm 10.1
18 lupus erythematosus 10.1
19 arteries, anomalies of 9.9
20 atrial standstill 1 9.9
21 cleft soft palate 9.9
22 melkersson-rosenthal syndrome 9.9
23 parkinson disease, late-onset 9.9
24 pick disease of brain 9.9
25 ocular motor apraxia 9.9
26 tardive dyskinesia 9.9
27 graves disease 1 9.9
28 fragile x syndrome 9.9
29 stroke, ischemic 9.9
30 alacrima, achalasia, and mental retardation syndrome 9.9
31 hyperlipoproteinemia, type iii 9.9
32 west syndrome 9.9
33 cervical dystonia 9.9
34 x-linked alport syndrome 9.9
35 tonsillitis 9.9
36 chronic pyelonephritis 9.9
37 portal hypertension 9.9
38 alport syndrome 9.9
39 pyelonephritis 9.9
40 nephrotic syndrome 9.9
41 coronary artery anomaly 9.9
42 allergic hypersensitivity disease 9.9
43 pica disease 9.9
44 bell's palsy 9.9
45 acoustic neuroma 9.9
46 cerebral palsy 9.9
47 neuroma 9.9
48 constipation 9.9
49 glomus tumor 9.9
50 tic disorder 9.9

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 delayed gross motor development 58 Excluded (0%)
8 dementia 58 Excluded (0%)
9 mental deterioration 31 HP:0001268
10 parkinsonism 31 HP:0001300

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
chorea
striatal t2-weighted hyperintensities seen on mri
striatal atrophy (later)
striatal swelling (early)

Clinical features from OMIM:

616922

UMLS symptoms related to Striatal Degeneration, Autosomal Dominant 2:


ataxia, tremor, myoclonus, dystonia, agitation, involuntary movements, muscle fibrillation, restlessness, athetosis, asterixis, myokymia, 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 240)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
2
Topiramate Approved Phase 4 97240-79-4 5284627
3
Sertraline Approved Phase 4 79617-96-2 68617
4
Lithium carbonate Approved Phase 4 554-13-2
5
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
6
Ziprasidone Approved Phase 4 146939-27-7 60854
7
Norepinephrine Approved Phase 4 51-41-2 439260
8
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
9
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
10
Histamine Approved, Investigational Phase 4 51-45-6 774
11
Cyproheptadine Approved Phase 4 129-03-3 2913
12
Clonidine Approved Phase 4 4205-90-7 2803
13
Nicotine Approved Phase 4 54-11-5 942 89594
14
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
15
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
16
Amphetamine Approved, Illicit, Investigational Phase 4 300-62-9 5826 3007
17
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
18
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
19
Ethanol Approved Phase 4 64-17-5 702
20
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
21
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
22
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
23
Haloperidol Approved Phase 4 52-86-8 3559
24 Quetiapine Fumarate Phase 4 111974-72-2
25 Renal Agents Phase 4
26 Antiparasitic Agents Phase 4
27 Antiprotozoal Agents Phase 4
28 Anti-Infective Agents, Urinary Phase 4
29 Antimalarials Phase 4
30 Sulfalene Phase 4
31 Omega 3 Fatty Acid Phase 4
32 Antidepressive Agents Phase 4
33 Vasoconstrictor Agents Phase 4
34 Cytochrome P-450 Enzyme Inhibitors Phase 4
35 Cytochrome P-450 CYP2D6 Inhibitors Phase 4
36 Analgesics Phase 4
37 Dexmethylphenidate Hydrochloride Phase 4
38 Histamine H1 Antagonists Phase 4
39 Dermatologic Agents Phase 4
40 Antipruritics Phase 4
41 Histamine Antagonists Phase 4
42
Histamine Phosphate Phase 4 51-74-1 65513
43 Anti-Allergic Agents Phase 4
44 Sympatholytics Phase 4
45 Giapreza Phase 4
46 Angiotensin Receptor Antagonists Phase 4
47 Angiotensin II Type 1 Receptor Blockers Phase 4
48 Angiotensinogen Phase 4
49 Sympathomimetics Phase 4
50 adderall Phase 4

Interventional clinical trials:

(show top 50) (show all 647)
# Name Status NCT ID Phase Drugs
1 Functional Brain Markers and Predictors of Treatment Response Associated With Norepinephrine System Genes in ADHD Unknown status NCT00862108 Phase 4 Methylphenidate
2 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
3 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
4 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
5 Study of Associated Gene Polymorphisms With Atomoxetine Response Prediction in ADHD Treatment Unknown status NCT01339286 Phase 4 atomoxetine
6 Association Between Motorcycle Accidents, Attention Deficit/Hyperactivity Disorder and Substance Use Disorder and Motorcycle Accidents Unknown status NCT00536419 Phase 4 Methylphenidate
7 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
8 Aggressive Behaviour in Children With Tourette's Syndrome (TS) and Comorbid Attention Deficit Hyperactivity Disorder (ADHD) Unknown status NCT00152750 Phase 4 APO-clonidine
9 Assessment and Follow Up Study of Children and Adolescent With Bipolar Disorder Unknown status NCT01000402 Phase 4 Psychopharmacotherapy
10 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)
11 Effects of a Probiotic Supplement on Symptoms of ADHD and Anxiety in Children Unknown status NCT02545634 Phase 4
12 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
13 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
14 A 3 Month Open-Label Study of Atomoxetine in Children With Attention-Deficit/Hyperactivity Disorder; Symptomatic and Functional Outcomes. Completed NCT00191633 Phase 4 Atomoxetine
15 Open-Label Treatment With Atomoxetine Hydrochloride in Child and Adolescents With Attention-Deficit/Hyperactivity Disorder and Comorbid Dyslexia Completed NCT00191048 Phase 4 Atomoxetine
16 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
17 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
18 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
19 An Open-Label Study of Naltrexone in Adults With Attention Deficit Hyperactivity Disorder. Completed NCT01873729 Phase 4 Naltrexone
20 Association Between Norepinephrine Transporter Polymorphism and Response of Methylphenidate Completed NCT00757029 Phase 4
21 Working Memory Training: A Randomised Controlled Treatment Study in Young ADHD Children Completed NCT00819611 Phase 4
22 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
23 Evaluation of Academic Performance in Asian Children Aged 8 to 11 Years With Attention-Deficit/Hyperactivity Disorder Treated With Atomoxetine Hydrochloride Completed NCT00471354 Phase 4 Atomoxetine
24 A Randomized, Multi-center, Double-blind, Cross-over Study Comparing the Efficacy and Safety of Focalin® XR 20 mg Versus Placebo at the 0.5 Hour Timepoint (Post-dose) in Children (6-12 Years) With Attention-Deficit/Hyperactivity Disorder (ADHD) in a Laboratory Classroom Setting Completed NCT00564954 Phase 4 Dex-methylphenidate hydrochloride extended-release (Focalin XR);Placebo
25 A Double-Blind Study of Atomoxetine Hydrochloride Versus Placebo for the Treatment of ADHD in Young Adults With an Assessment of Associated Functional Outcomes Completed NCT00510276 Phase 4 Atomoxetine hydrochloride;Placebo
26 Open-Label Treatment Trial to Assess the Short-Term Tolerability, Safety, and Efficacy of Methylphenidate Hydrochloride Extended-Release Liquid Formulation in High-Functioning Autism Spectrum Disorder Adults With Attention-Deficit/Hyperactivity Disorder Completed NCT02096952 Phase 4 Methylphenidate extended-release liquid formulation
27 A Double-Blind Placebo-Controlled Study of Combination Therapy in Children With ADHD Completed NCT01940978 Phase 4 Methylphenidate ER;Cyproheptadine
28 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
29 A Phase 4, Randomized, Double-blind, Multicenter, Parallel-group, Active-controlled, Dose-optimization Safety and Efficacy Study of SPD489 (VYVANSE®) Compared With OROS-MPH (CONCERTA®) With a Placebo Reference Arm, in Adolescents Aged 13-17 Years With Attention-deficit/Hyperactivity Disorder (ADHD) Completed NCT01552915 Phase 4 Lisdexamfetamine dimesylate;Methylphenidate Hydrochloride;Placebo
30 A Phase 4, Randomized, Double-blind, Multicenter, Parallel-group, Active-controlled, Forced-dose Titration, Safety and Efficacy Study of SPD489 (VYVANSE®) Compared With OROS-MPH (CONCERTA®) With a Placebo Reference Arm, in Adolescents Aged 13-17 Years With Attention-deficit/Hyperactivity Disorder (ADHD) Completed NCT01552902 Phase 4 Lisdexamfetamine dimesylate;Methylphenidate Hydrochloride;Placebo
31 A Randomized, Multi-center, Double-blind, Placebo-controlled, Cross-over Study Evaluating the Safety and Efficacy of Dex-Methylphenidate Extended Release 30 mg vs. 20 mg as Measured by SKAMP-Combined Scores in Children With Attention-Deficit/Hyperactivity Disorder (ADHD) in a Laboratory Classroom Setting. Completed NCT00776009 Phase 4 Dex-Methylphenidate hydrochloride Extended Release (Focalin® XR);Placebo
32 A Pilot Study of Omega-3 Fatty Acid Supplementation to ADHD Medication in Children With ADHD and Deficits in Emotional Self-Regulation Completed NCT02204410 Phase 4 ADHD Medication
33 A Phase 4, Double-Blind, Multi-Center, Placebo-Controlled, Randomized Withdrawal, Safety and Efficacy Study of SPD489 in Adults Aged 18-55 With Attention-Deficit/Hyperactivity Disorder (ADHD) Completed NCT00877487 Phase 4 SPD489 (Lisdexamfetamine dimesylate);Placebo
34 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
35 Efficacy and Safety/Tolerability of Methylphenidate Transdermal System (MTS) for Before-School Dysfunction in Children With Attention Deficit Hyperactivity Disorder (ADHD) Completed NCT00586157 Phase 4 Methylphenidate Transdermal System;Placebo
36 Efficacy and Safety/Tolerability of OROS MPH (Concerta) Plus Atomoxetine (ATMX) in Children and Adolescents (Age 6-17) With Attention Deficit Hyperactivity Disorder (ADHD) Completed NCT00585910 Phase 4 Atomoxetine and OROS Methylphenidate
37 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
38 Genetic Polymorphism of Drug Transporters in OROS-Methylphenidate Treatment in Children and Adolescents With Attention Deficit Hyperactivity Disorder(ADHD) Completed NCT00842127 Phase 4 OROS-methylphenidate (Concerta)
39 A Randomized, Double Blind Comparison of the Effects of Atomoxetine Versus Placebo on Neuropsychological Outcomes Across the Day in Children With Attention-Deficit/Hyperactivity Disorder (ADHD) by Use of a Computer Based Continuous Performance Test (cb CPT) Completed NCT00546910 Phase 4 Atomoxetine;Placebo
40 Effect of OROS-Methylphenidate (Concerta) on Different Domains of Attention and Working Memory in Children With Attention-Deficit/Hyperactivity Disorder Completed NCT00530257 Phase 4 Placebo;OROS-methylphenidate
41 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
42 Long Duration Stimulant Treatment Study of Preschoolers With ADHD-Feasibility Study Completed NCT00257725 Phase 4 Ritalin LA™
43 A Randomized, Controlled, Open-Label Comparison Study of the Efficacy and Safety of Slow Transitioning Compared With Fast Transitioning From a Stimulant Medication to Atomoxetine in Pediatric and Adolescent Outpatients With DSM-IV Attention-Deficit/Hyperactivity Disorder (ADHD) Completed NCT00760747 Phase 4 Atomoxetine
44 A Multicenter, Dose-Optimized, Double-Blind, Randomized, Placebo-Controlled, Crossover Study to Evaluate the Efficacy of AR11 (Amphetamine Sulfate) in Pediatric Patients (Ages 6-12) With Attention Deficit Hyperactivity Disorder (ADHD) in a Laboratory Classroom Completed NCT01986062 Phase 4 AR11;Placebo
45 A Randomized, Double-Blind Comparison of Placebo and Atomoxetine Hydrochloride Given Once a Day in Adults With Attention-Deficit/Hyperactivity Disorder: With a Secondary Examination of Impact of Treatment on Family Functioning Completed NCT00190775 Phase 4 Atomoxetine Hydrochloride;Placebo
46 The Cognitive Effects of Aripiprazole in Children Completed NCT00221962 Phase 4 Aripiprazole
47 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]
48 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
49 Diagnostic Utility of ADHD by Brain Activity Flow Patterns Analysis Using Evoked Response Potentials Completed NCT01063153 Phase 4 Osmotic Release Methylphenidate
50 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

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
Brain, Testes, Cortex, Liver, Prefrontal Cortex, Heart, Eye

Publications for Striatal Degeneration, Autosomal Dominant 2

Articles related to Striatal Degeneration, Autosomal Dominant 2:

(show top 50) (show all 715)
# Title Authors PMID Year
1
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. 56 6
27058447 2016
2
Rare Association of Takotsubo Cardiomyopathy with Right Bundle Branch Block in the Dual Setting of Asthma Exacerbation and Psychiatric Illness. 61
31959739 2020
3
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature. 61
31879735 2020
4
"Incompatible Housemates": Hypertrophic Obstructive Cardiomyopathy and Takotsubo Syndrome. 61
31813917 2019
5
A Case of Ventricular Fibrillation Induced by Takotsubo Syndrome with Congenital Long QT Syndrome. 61
31787694 2019
6
Diagnostic Performance of Dobutamine Stress Echocardiography in End-Stage Liver Disease. 61
30660519 2019
7
A case of esophagogastroduodenoscopy induced Takotsubo cardiomyopathy with complete heart block. 61
30904984 2019
8
Cannabis-related emergencies in children and teens. 61
31090567 2019
9
Cannabis-related emergencies in children and teens. 61
30865027 2019
10
Acute encephalopathy with biphasic seizures and late reduced diffusion accompanied by Takotsubo cardiomyopathy. 61
30327157 2019
11
A Case of Reverse Takotsubo Cardiomyopathy Incited by a Spinal Subdural Hematoma. 61
31428488 2019
12
Reverse Takotsubo cardiomyopathy: a comprehensive review. 61
30603648 2018
13
Diencephalic Syndrome as Presentation of Giant Childhood Craniopharyngioma: Management Review. 61
30937076 2018
14
Early-life hyperthermic seizures upregulate adenosine A2A receptors in the cortex and promote depressive-like behavior in adult rats. 61
30017837 2018
15
Ventricular Septal Perforation: A Rare but Life-Threatening Complication Associated with Takotsubo Syndrome. 61
29434120 2018
16
Epidemiological study of child and adolescent psychiatric disorders in Lithuania. 61
29699524 2018
17
What Increases the Risk of Dental Traumatism in Patients with Developmental Disabilities? 61
29898061 2018
18
Factors associated with anterior open bite in children with developmental disabilities. 61
29278267 2018
19
[Takotsubo cardiomyopathy developing during anagrelide therapy in a patient with essential thrombocythemia]. 61
30626797 2018
20
Association between ibrutinib and mid-cavitary Takotsubo cardiomyopathy: a case report and a review of chemotherapy-induced Takostubo's cardiomyopathy. 61
31020065 2017
21
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
22
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
23
The misleading electrocardiogram - Midventricular Takotsubo masquerading as anterior wall STEMI. 61
28774770 2017
24
Botulinum toxin treatment for facial palsy: A systematic review. 61
28389084 2017
25
Effect of Centruroides antivenom on reversal of methamphetamine-induced hyperkinesis and hyperthermia in rats. 61
29354652 2017
26
A case of reverse takotsubo cardiomyopathy caused by an eating disorder. 61
30279744 2017
27
[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
28
Posterior atlantoaxial fusion using a C2 transverse foramen-penetrating screw: A technical note. 61
29184713 2017
29
[Characteristics of the course of gastric and duodenal ulcer disease concurrent with duodenal insufficiency]. 61
29411764 2017
30
[The efficacy of botulinotherapy in the correction of the pain syndrome and quality of life of patients with cervical dystonia]. 61
29376981 2017
31
Child Neurology: Diencephalic syndrome-like presentation of a cervicomedullary brainstem tumor. 61
27872228 2016
32
Genetic and Environmental Influences on the Mental Health of Children: A Twin Study. 61
27479477 2016
33
Left ventricular outflow tract obstruction in ICU patients. 61
27054628 2016
34
Changes in Coronary Blood Flow After Acute Myocardial Infarction: Insights From a Patient Study and an Experimental Porcine Model. 61
27013161 2016
35
Stress Cardiomyopathy Caused by Diving: Case Report and Review of the Literature. 61
26589557 2016
36
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities. 61
26515654 2016
37
[Efficacy and safety of transcranial magnetic stimulation in the treatment of rare forms of muscular dystonia]. 61
27029444 2016
38
FEATURES OF LIMBIC-NEOCORTICAL AND MONOAMINERGIC CORRELATIONS IN THE DEVELOPMENT OF WITHDRAWAL SYNDROME OF INHALATIONS OF VAPORS OF ORGANIC SOLVENT «646» IN RATS. 61
29569887 2016
39
An infant with hyperalertness, hyperkinesis, and failure to thrive: a rare diencephalic syndrome due to hypothalamic anaplastic astrocytoma. 61
26337554 2015
40
Del(18)(q12.2q21.1) syndrome: a case report and clinical review of the literature. 61
26400529 2015
41
Botulinum toxin in the management of facial paralysis. 61
26101876 2015
42
A Contemporary Approach to Facial Reanimation. 61
26042960 2015
43
Contralateral botulinum injections in patients with residual facial asymmetry and contralateral hyperkinesis after primary facial palsy surgery. 61
26229045 2015
44
Stress-induced cardiomyopathy. 61
25858931 2015
45
Factors associated with bruxism in children with developmental disabilities. 61
25466325 2015
46
[The evaluation of hyperkineses in hepatocerebral dystrophy (Wilson-Konovalov disease) from the position of the theory of muscle spindles]. 61
26288289 2015
47
Half-mirror biofeedback exercise in combination with three botulinum toxin A injections for long-lasting treatment of facial sequelae after facial paralysis. 61
25444667 2015
48
Characterization of the thermoregulatory response to pituitary adenylate cyclase-activating polypeptide in rodents. 61
24994541 2014
49
Takotsubo Cardiomyopathy: Typical and Atypical Variants, A Two-Year Retrospective Cohort Study. 61
28348711 2014
50
Recurrent right ventricular takotsubo cardiomyopathy in a patient with recurrent aspiration. 61
25048834 2014

Variations for Striatal Degeneration, Autosomal Dominant 2

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDE10A NM_006661.4(PDE10A):c.970T>C (p.Phe324Leu)SNV Pathogenic 225635 rs875989840 6:165829768-165829768 6:165416280-165416280
2 PDE10A NM_006661.4(PDE10A):c.868T>C (p.Phe290Leu)SNV Pathogenic 225636 rs875989841 6:165832223-165832223 6:165418735-165418735
3 PDE10A NM_001130690.2(PDE10A):c.1001T>G (p.Phe334Cys)SNV Pathogenic/Likely pathogenic 522607 rs1554258695 6:165829767-165829767 6:165416279-165416279
4 PDE10A NM_001130690.3(PDE10A):c.544C>T (p.Arg182Ter)SNV Likely pathogenic 804399 6:165846611-165846611 6:165433123-165433123

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

73
# 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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