COCPMR
MCID: CHR607
MIFTS: 47

Chorea, Childhood-Onset, with Psychomotor Retardation (COCPMR)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Chorea, Childhood-Onset, with Psychomotor Retardation

MalaCards integrated aliases for Chorea, Childhood-Onset, with Psychomotor Retardation:

Name: Chorea, Childhood-Onset, with Psychomotor Retardation 56 73 36 6
Chorea 43 39 17 71
Cocpmr 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset of delayed development apparent in infancy
onset of choreiform movements around 8 to 9 years of age
one consanguineous palestinian family has been reported (last curated may 2016)


HPO:

31
chorea, childhood-onset, with psychomotor retardation:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 616939
KEGG 36 H02367
UMLS 71 C0008489

Summaries for Chorea, Childhood-Onset, with Psychomotor Retardation

NINDS : 53 Chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. Chorea is characterized by brief, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. Chorea often occurs with athetosis, which adds twisting and writhing movements. Chorea is a primary feature of Huntington's disease, a progressive, hereditary movement disorder that appears in adults, but it may also occur in a variety of other conditions. Sydenham's chorea occurs in a small percentage (20 percent) of children and adolescents as a complication of rheumatic fever. Chorea can also be induced by drugs (levodopa, anti-convulsants, and anti-psychotics) metabolic and endocrine disorders, and vascular incidents.

MalaCards based summary : Chorea, Childhood-Onset, with Psychomotor Retardation, also known as chorea, is related to choreatic disease and chorea, benign hereditary, and has symptoms including ataxia, myoclonus and tremor. An important gene associated with Chorea, Childhood-Onset, with Psychomotor Retardation is GPR88 (G Protein-Coupled Receptor 88). The drugs Dopamine and Amantadine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related phenotypes are intellectual disability and global developmental delay

KEGG : 36 Chorea, childhood-onset, with psychomotor retardation (COCPMR) is a familial developmental disorder characterized by chorea, marked speech delay, and learning difficulties. Mutations in GPR88 are associated with COCPMR.

UniProtKB/Swiss-Prot : 73 Chorea, childhood-onset, with psychomotor retardation: An autosomal recessive neurodevelopmental disorder characterized by abnormal involuntary movements, marked speech delay, intellectual disability and learning difficulties.

More information from OMIM: 616939

Related Diseases for Chorea, Childhood-Onset, with Psychomotor Retardation

Diseases related to Chorea, Childhood-Onset, with Psychomotor Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 542)
# Related Disease Score Top Affiliating Genes
1 choreatic disease 33.4 GPR88 GNAO1
2 chorea, benign hereditary 31.9 RHOBTB2 PDE2A GNAO1 FRRS1L CSTB
3 encephalopathy 30.0 GNAO1 FRRS1L
4 lingual-facial-buccal dyskinesia 29.8 GNAO1 CSTB
5 dystonia 29.4 RHOBTB2 PDE2A CSTB
6 sydenham chorea 12.9
7 chorea gravidarum 12.7
8 choreoacanthocytosis 12.5
9 chorea, remitting, with nystagmus and cataract 12.4
10 huntington disease 12.4
11 chorea, benign familial 12.3
12 morvan's fibrillary chorea 12.3
13 postinfectious autoimmune disease with chorea 12.2
14 neurodegenerative disease with chorea 12.2
15 striatal degeneration, autosomal dominant 2 11.9
16 pontocerebellar hypoplasia, type 2e 11.9
17 3-methylglutaconic aciduria, type iii 11.9
18 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.8
19 dentatorubral-pallidoluysian atrophy 11.6
20 mcleod syndrome 11.5
21 rheumatic fever 11.5
22 spinocerebellar ataxia 17 11.5
23 aceruloplasminemia 11.5
24 rheumatic encephalitis 11.5
25 antiphospholipid syndrome 11.4
26 moyamoya disease 1 11.4
27 tardive dyskinesia 11.4
28 huntington disease-like 2 11.4
29 adcy5-related dyskinesia 11.4
30 ataxia-telangiectasia 11.4
31 pontocerebellar hypoplasia 11.4
32 paroxysmal nonkinesigenic dyskinesia 1 11.3
33 spinocerebellar ataxia 1 11.3
34 glycine encephalopathy 11.3
35 episodic kinesigenic dyskinesia 1 11.3
36 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.3
37 pontocerebellar hypoplasia, type 2a 11.3
38 neurodegeneration with brain iron accumulation 3 11.3
39 spinocerebellar ataxia 2 11.2
40 pontocerebellar hypoplasia, type 2b 11.2
41 pontocerebellar hypoplasia, type 2c 11.2
42 muscular dystrophy, limb-girdle, autosomal recessive 18 11.2
43 myopathy with extrapyramidal signs 11.2
44 neurodevelopmental disorder with impaired speech and hyperkinetic movements 11.2
45 huntington disease-like syndrome 11.2
46 neuropathy, hereditary sensory and autonomic, type iia 11.2
47 juvenile huntington disease 11.2
48 sneddon syndrome 11.0
49 gordon holmes syndrome 11.0
50 basal ganglia calcification, idiopathic, 1 11.0

Graphical network of the top 20 diseases related to Chorea, Childhood-Onset, with Psychomotor Retardation:



Diseases related to Chorea, Childhood-Onset, with Psychomotor Retardation

Symptoms & Phenotypes for Chorea, Childhood-Onset, with Psychomotor Retardation

Human phenotypes related to Chorea, Childhood-Onset, with Psychomotor Retardation:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 global developmental delay 31 HP:0001263
3 chorea 31 HP:0002072
4 poor speech 31 HP:0002465
5 abnormal head movements 31 HP:0002457

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
global developmental delay
poor speech
abnormal involuntary movements
choreiform movements

Head And Neck Mouth:
abnormal perioral and oral movements

Head And Neck Head:
abnormal head movements

Clinical features from OMIM:

616939

UMLS symptoms related to Chorea, Childhood-Onset, with Psychomotor Retardation:


ataxia, myoclonus, tremor, clonus, involuntary movements, dystonia, athetosis, other symptoms involving nervous and musculoskeletal systems, muscular fasciculation, spasm, synkinesis, recurrent muscle twitches (symptom)

Drugs & Therapeutics for Chorea, Childhood-Onset, with Psychomotor Retardation

Drugs for Chorea, Childhood-Onset, with Psychomotor Retardation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Amantadine Approved Phase 4 768-94-5 2130
3
Levodopa Approved Phase 4 59-92-7 6047
4
Carbidopa Approved Phase 4 28860-95-9 34359
5
Selegiline Approved, Investigational, Vet_approved Phase 4 14611-51-9 5195 26757
6 Carbidopa, levodopa drug combination Phase 4
7 Dihydroxyphenylalanine Phase 4
8 Psychotropic Drugs Phase 4
9 Dopamine Agents Phase 4
10 Antiparkinson Agents Phase 4
11 Anti-Infective Agents Phase 4
12 Analgesics, Non-Narcotic Phase 4
13 Antiviral Agents Phase 4
14 Analgesics Phase 4
15 Dopamine agonists Phase 4
16 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
17 Antidepressive Agents Phase 4
18 Neuroprotective Agents Phase 4
19 Monoamine Oxidase Inhibitors Phase 4
20 Protective Agents Phase 4
21
Tetrabenazine Approved, Investigational Phase 3 58-46-8 6018
22
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
23
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
24
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
25
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
26 Dopamine Antagonists Phase 3
27 Antipsychotic Agents Phase 3
28 Adrenergic Agents Phase 3
29 Gastrointestinal Agents Phase 3
30 Antiemetics Phase 3
31 Tiapride Hydrochloride Phase 3
32 Serotonin Uptake Inhibitors Phase 3
33
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
34
Citalopram Approved Phase 2 59729-33-8 2771
35
Histamine Approved, Investigational Phase 2 51-45-6 774
36
Famotidine Approved Phase 2 76824-35-6 3325
37
Trihexyphenidyl Approved Phase 2 144-11-6, 58947-95-8 5572
38
Risperidone Approved, Investigational Phase 2 106266-06-2 5073
39
Natalizumab Approved, Investigational Phase 1, Phase 2 189261-10-7
40
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
41 Excitatory Amino Acid Antagonists Phase 2
42 Anti-Bacterial Agents Phase 2
43 penicillins Phase 2
44 Atomoxetine Hydrochloride Phase 2
45 Antacids Phase 2
46 Anti-Ulcer Agents Phase 2
47 Histamine Antagonists Phase 2
48
Histamine Phosphate Phase 2 51-74-1 65513
49 Histamine H2 Antagonists Phase 2
50 Cholinergic Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 66)
# Name Status NCT ID Phase Drugs
1 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
2 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
3 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4 levodopa/carbidopa
4 Adding Orally Disintegrating Selegiline (Zelapar) to Patients Taking Dopamine Agonists and Experiencing Complications Completed NCT00443872 Phase 4 orally disintegrating selegiline (Zelapar)
5 A Randomized, Double-Blind, Placebo-Controlled Study of Tetrabenazine for the Treatment of Huntington's Chorea Completed NCT00219804 Phase 3 tetrabenazine or placebo
6 An Open-Label, Long Term Safety Study of SD-809 ER in Subjects With Chorea Associated With Huntington Disease Completed NCT01897896 Phase 3 SD-809
7 A Randomized Double-Blind, Placebo-Controlled Study of SD-809 Extended Release for the Treatment of Chorea Associated With Huntington Disease Completed NCT01795859 Phase 3 SD-809;Placebo
8 Neuroleptic and Huntington Disease. Comparison of : Olanzapine, la Tetrabenazine and Tiapride. A Multicentric, Randomised, Controlled Study. Completed NCT00632645 Phase 3 Olanzapine;Xenazine;Tiapridal
9 Double-Blind, Randomised, Two-Armed Study for the Evaluation of Efficacy and Safety of Minocycline for Treatment Completed NCT00146809 Phase 3 Minocyline
10 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy, Safety, and Tolerability of Valbenazine for the Treatment of Chorea Associated With Huntington Disease Recruiting NCT04102579 Phase 3 Valbenazine;Placebo
11 A Randomized, Double-Blind, Placebo-Controlled Study of TEV-50717 (Deutetrabenazine) for the Treatment of Dyskinesia in Cerebral Palsy in Children and Adolescents Active, not recruiting NCT03813238 Phase 3 Deutetrabenazine;Placebo
12 Open-Label Rollover Study for Continuing Valbenazine Administration for the Treatment of Chorea Associated With Huntington Disease Enrolling by invitation NCT04400331 Phase 3 Valbenazine
13 Trial of Kuvan™ (Sapropterin) Treatment in Patients With Lesch Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3 sapropterin
14 Safety and Efficacy of Bone Marrow Derived MNCs for the Treatment of Huntingtons Chorea. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01834053 Phase 1, Phase 2
15 Phase IIa, Double-blind, Randomized, Placebo-controlled Study of the Efficacy and Safety of SOM3355 in Huntington's Disease (HD) Patients With Chorea Movements. Completed NCT03575676 Phase 2 SOM3355 100mg BID;SOM3355 200mg BID;Placebo BID
16 NMDA-Receptor Blockade in Huntington's Chorea Completed NCT00001930 Phase 2 Amantadine
17 A Multi-Center, North American, Open-Label Extension Study of Pridopidine (ACR16) in the Symptomatic Treatment of Huntington's Disease (Open-HART). Completed NCT01306929 Phase 2 pridopidine
18 A Phase 2, Randomized, Placebo Controlled, Double Blind Proof-of-concept Study Of The Efficacy And Safety Of Pf-02545920 In Subjects With Huntington's Disease Completed NCT02197130 Phase 2 PF-02545920;PF-02545920
19 Atomoxetine for Attention Deficits in Adults With Mild HD: A Randomized, Placebo-Controlled Crossover Study Completed NCT00368849 Phase 2 atomoxetine;Matching Placebo
20 A Randomized, Placebo-Controlled Pilot Study in Huntington's Disease (CIT-HD) Completed NCT00271596 Phase 2 20mg daily citalopram;Placebo
21 An 'N-of-1' Study of the Histamine H@ Antagonist, Famotidine in Levodopa-induced Dyskinesia in Parkinson's Disease Completed NCT01937078 Phase 2 Famotidine
22 Childhood Hypertonia of Central Origin: An Open Label Trial of Anticholinergic Treatment Effects Completed NCT00122044 Phase 2 trihexyphenidyl
23 A Trial of Prophylaxis for the PANDAS Subgroup Completed NCT00001359 Phase 2 Penicillin or Placebo
24 Risperidone for the Treatment of Huntington's Disease Chorea Not yet recruiting NCT04201834 Phase 2 Risperidone
25 Clinical and Neurochemical Effects of Transcranial Magnetic Stimulation (TMS) in Multiple Sclerosis Not yet recruiting NCT04062331 Phase 1, Phase 2 Placebos
26 A Multi-centre, Randomized, Double-blind, Placebo-controlled, Parallel-group, Multiple Oral Dose Titration Proof of Concept Study in Patients With Huntington's Disease to Assess the Efficacy, Safety and Tolerability of AFQ056 in Reducing Chorea Terminated NCT01019473 Phase 2 AFQ056;Placebo
27 An Open Label Extension Study To Investigate The Long Term Safety, Tolerability And Efficacy Of Pf-02545920 In Subjects With Huntington's Disease Who Previously Completed Study A8241021 Terminated NCT02342548 Phase 2 20 mg BID of PF-02545920
28 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation for Control, Management and Treatment of HD Unknown status NCT00675077 Phase 1
29 Ursodiol in Huntington's Disease Unknown status NCT00514774 Phase 1 ursodiol;placebo
30 A Phase 1b, Open-label, Parallel-group Study in Subjects With Huntington Disease to Assess the Safety, Tolerability, and Fed/Fasted Pharmacokinetics of Repeated Oral Doses of SEN0014196 Completed NCT01485965 Phase 1 SEN0014196
31 (+)-Alpha-Dihydrotetrabenazine Phase I Completed NCT02844179 Phase 1 HTBZ
32 An Exploratory Clinical Trial in Early Stage Huntington's Disease Patients to Assess Pharmacokinetics, Candidate Pharmacodynamic Measures of Target Engagement and Disease Modulation as Well as Acute Phenotypical Effects Following Multiple Oral Doses of SEN0014196. Completed NCT01485952 Phase 1 SEN0014196 (Low Dose);SEN0014196 (High Dose);Placebo
33 The Effects of Music Therapy on Depression, Chorea and Other Symptoms of Huntington's Disease Completed NCT00178360 Phase 1
34 An Open Label, Phase Ib Study to Evaluate the Impact of Low Doses of Nilotinib Treatment on Safety, Tolerability and Biomarkers in Huntington's Disease Recruiting NCT03764215 Phase 1 Nilotinib 150 MG
35 PINS Stimulator System for Deep Brain Stimulation in Huntington's Disease Unknown status NCT02263430
36 Exploring Hypertonia in Children With Cerebral Palsy- a Population-based Approach. Unknown status NCT01744158
37 Deep Brain Stimulation in the Treatment of Intractable Movement Disorders ( Parkinson's Disease, Essential Tremors and Dystonia) Unknown status NCT03562403
38 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Unknown status NCT02340871
39 Impact of Xenazine(Tetrabenazine)on Gait and Functional Activity in Individuals With Huntington's Disease Completed NCT01451463
40 Intravenous Immunoglobulins as Effective Treatment in Sydenham's Chorea Completed NCT00615797 standard interventions penicillin VK and haloperidol
41 Characterization of Cardiac and Skeletal Myopathy, Risk Evaluation, and Phenotype-Genotype Correlation in Patients With Neuroacanthocytosis Completed NCT00007228
42 Plasma Adiponectin Levels and Relations With Cytokines in Children With Acute Rheumatic Fever Completed NCT01886846
43 Accelerated Diffusion MRI as a Potential Image Based Biomarker for Hungtington Disease Completed NCT01884181
44 Comparative 2-D Tumor Analysis in Familial Gliomas Completed NCT00125710
45 NIAID Clinical Center Genomics Opportunity Protocol Completed NCT02417766
46 Functional Neuro-Imaging of Strategy Use During Human Behavior Completed NCT00728741
47 Assessment The Effects of Proprioceptive Neuromuscular Facilitation, Myofascial Releasing Maneuvers and Home Exercises on Pain and Jaw Function in Patients With Bruxism Completed NCT03499665
48 I2PETPG - Quantification and Localisation of Imidazoline2 Binding Sites in a Group of Participants Diagnosed With Alzheimer's Disease Using 11C‑BU99008: a Positron Emission Tomography Study Completed NCT02874820 Early Phase 1 Idazoxan
49 I2PETHV - Quantification and Localisation of Imidazoline2 Binding Sites in Healthy Volunteers Using [11C]BU99008 a Positron Emission Tomography Study Completed NCT02323217 Early Phase 1 Idazoxan;Isocarboxazid
50 Wearable Sensors for Quantitative Assessment of Motor Impairment in Huntington's Disease Recruiting NCT03599076

Search NIH Clinical Center for Chorea, Childhood-Onset, with Psychomotor Retardation

Cochrane evidence based reviews: chorea

Genetic Tests for Chorea, Childhood-Onset, with Psychomotor Retardation

Anatomical Context for Chorea, Childhood-Onset, with Psychomotor Retardation

MalaCards organs/tissues related to Chorea, Childhood-Onset, with Psychomotor Retardation:

40
Brain, Testes, Heart, Thyroid, Globus Pallidus, Lung, Cortex

Publications for Chorea, Childhood-Onset, with Psychomotor Retardation

Articles related to Chorea, Childhood-Onset, with Psychomotor Retardation:

(show top 50) (show all 5610)
# Title Authors PMID Year
1
Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities. 61 56 6
27123486 2016
2
Mice Lacking GPR88 Show Motor Deficit, Improved Spatial Learning, and Low Anxiety Reversed by Delta Opioid Antagonist. 56
26188600 2016
3
Lack of GPR88 enhances medium spiny neuron activity and alters motor- and cue-dependent behaviors. 56
23064379 2012
4
Sydenham chorea in a12- year old Saudi girl. 61
32566771 2020
5
The binding of the APT1 domains to phosphoinositides is regulated by metal ions in vitro. 61
32407779 2020
6
VMAT2 inhibitors for the treatment of hyperkinetic movement disorders. 61
32454050 2020
7
Perceptions of the impact of chorea on health-related quality of life in Huntington disease (HD): A qualitative analysis of individuals across the HD spectrum, family members, and clinicians. 61
30849283 2020
8
Functional gait disorders: A sign-based approach. 61
32482839 2020
9
[Huntington's disease and Sydenham's chorea]. 61
32557468 2020
10
Novel mutation of the PRRT2 gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports. 61
32346475 2020
11
Huntington's disease as an unexpected cause of deafness with dystonia and chorea. 61
32534373 2020
12
Electroconvulsive therapy for severe depression, psychosis and chorea in a patient with Huntington's disease: case report and review of the literature. 61
32513333 2020
13
Antidopaminergic treatment is associated with reduced chorea and irritability but impaired cognition in Huntington's disease (Enroll-HD). 61
32229581 2020
14
Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations. 61
32494755 2020
15
Subthalamic nucleus deep brain stimulation in two siblings with chorea-acanthocytosis. 61
31938984 2020
16
Characteristics of Children with Acute Rheumatic Carditis from a High-Incidence Region: Importance of Unexplained Worsening of Functional Class. 61
32526745 2020
17
Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies. 61
32242326 2020
18
New Onset Chorea in a Previously Healthy 7-Year-Old. 61
32534792 2020
19
Preliminary data on prednisone effectiveness in children with Sydenham chorea. 61
31965299 2020
20
ACR Appropriateness Criteria® Movement Disorders and Neurodegenerative Diseases. 61
32370961 2020
21
Functional movement disorders. 61
31606137 2020
22
Early-Motor Phenotype Relates to Neuropsychiatric and Cognitive Disorders in Huntington's Disease. 61
31922295 2020
23
[Huntington's disease with childhood and adolescent onset: course of disease, clinical presentation and diagnostic challenges]. 61
32369858 2020
24
Pridopidine in the treatment of Huntington's disease. 61
32083454 2020
25
Hyperpolarization of the subthalamic nucleus alleviates hyperkinetic movement disorders. 61
32427942 2020
26
Benign hereditary chorea: From benign to serious. 61
31983472 2020
27
Clinical manifestation of non-ketotic hyperglycemia chorea: A case report and literature review. 61
32481362 2020
28
Chorea is a pleiotropic clinical feature of mutated fused-in-sarcoma in amyotrophic lateral sclerosis. 61
32116048 2020
29
Decreased Na+/K+ ATPase Expression and Depolarized Cell Membrane in Neurons Differentiated from Chorea-Acanthocytosis Patients. 61
32439941 2020
30
Chorea-acanthocytosis with a novel mutation in the vacuolar protein sorting 13 homolog a gene: A case report. 61
32088470 2020
31
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant. 61
32392611 2020
32
Serum periostin levels in acute rheumatic fever: is it useful as a new biomarker? 61
31648625 2020
33
Are there any novel markers in acute rheumatic fever: neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, and monocyte-to-lymphocyte ratio. 61
32364093 2020
34
Intranasal delivery of tetrabenazine nanoemulsion via olfactory region for better treatment of hyperkinetic movement associated with Huntington's disease: Pharmacokinetic and brain delivery study. 61
32439327 2020
35
Methylphenidate-induced Exacerbation of Chorea in a Child Resolved with Switching to Atomoxetine. 61
32329313 2020
36
Generalized Chorea and JAK2V617F Mutation-Positive Myeloproliferative Disorders. 61
32373666 2020
37
Efficacy of Levetiracetam in the Treatment of Sydenham Chorea. 61
32445412 2020
38
A Case of Generalized Chorea Presenting as an Early Feature of Fragile-X Associated Tremor/Ataxia Syndrome. 61
32373667 2020
39
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus. 61
32369665 2020
40
The impact of proteostasis dysfunction secondary to environmental and genetic causes on neurodegenerative diseases progression and potential therapeutic intervention. 61
32072427 2020
41
152 Development of Deutetrabenazine as a Potential New Non-Antipsychotic Treatment for Tourette Syndrome in Children and Adolescents. 61
32331029 2020
42
The following abstracts were presented as posters at the 2019 NEI Congress. 61
32331094 2020
43
Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion. 61
31778857 2020
44
Spinocerebellar ataxia type 48: last but not least. 61
32342324 2020
45
Coeliac disease presenting with chorea. 61
31780451 2020
46
Voluntary Inhibitory Control of Chorea: A Case Series. 61
32258230 2020
47
131 A Marionettist Pulling My Strings: A Case of Buprenorphine-induced Chorea. 61
32331089 2020
48
Is high blood concentration of ceftriaxone the only cause of chorea-like symptoms in a patient undergoing hemodialysis. 61
32327333 2020
49
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time. 61
32123049 2020
50
Pediatric APS: State of the Art. 61
32124078 2020

Variations for Chorea, Childhood-Onset, with Psychomotor Retardation

ClinVar genetic disease variations for Chorea, Childhood-Onset, with Psychomotor Retardation:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RHOBTB2 NM_001160036.2(RHOBTB2):c.1532G>A (p.Arg511Gln)SNV Pathogenic 545418 rs1554504684 8:22865224-22865224 8:23007711-23007711
2 PDE2A NM_002599.5(PDE2A):c.1180C>T (p.Gln394Ter)SNV Pathogenic 689477 11:72297116-72297116 11:72586072-72586072
3 FRRS1L NM_014334.3(FRRS1L):c.961C>T (p.Gln321Ter)SNV Pathogenic 218151 rs878853280 9:111899809-111899809 9:109137529-109137529
4 FRRS1L NM_014334.3(FRRS1L):c.845G>A (p.Trp282Ter)SNV Pathogenic 218152 rs878853281 9:111903640-111903640 9:109141360-109141360
5 FRRS1L NM_014334.3(FRRS1L):c.436dup (p.Ile146fs)duplication Pathogenic 218154 rs878853283 9:111911955-111911956 9:109149675-109149676
6 GPR88 NM_022049.3(GPR88):c.873C>A (p.Cys291Ter)SNV Pathogenic 225846 rs875989788 1:101005395-101005395 1:100539839-100539839
7 FRRS1L NM_014334.3(FRRS1L):c.737_739del (p.Gly246del)deletion Pathogenic/Likely pathogenic 218153 rs878853282 9:111903746-111903748 9:109141466-109141468
8 GNAO1 NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys)SNV Pathogenic/Likely pathogenic 420523 rs1064794533 16:56370758-56370758 16:56336846-56336846
9 CSTB NM_000100.3(CSTB):c.67-1G>CSNV Pathogenic/Likely pathogenic 8395 rs147484110 21:45194641-45194641 21:43774760-43774760
10 GNAO1 NM_020988.3(GNAO1):c.545C>T (p.Thr182Ile)SNV Likely pathogenic 812779 16:56368721-56368721 16:56334809-56334809
11 SLC9A6 NM_001042537.1(SLC9A6):c.1728-19_1728-3deldeletion Likely pathogenic 598968 rs1569525894 X:135122214-135122230 X:136040055-136040071
12 RTN4IP1 NM_032730.5(RTN4IP1):c.263T>G (p.Val88Gly)SNV Uncertain significance 916015 6:107076634-107076634 6:106628759-106628759
13 CRYBG1 , QRSL1 , RTN4IP1 deletion Uncertain significance 916131 6:106539151-106629957
14 CASR NM_000388.4(CASR):c.1609-27C>TSNV Uncertain significance 598997 rs4678175 3:122000933-122000933 3:122282086-122282086
15 TRH NM_007117.5(TRH):c.25G>A (p.Ala9Thr)SNV Uncertain significance 598998 rs772388530 3:129694684-129694684 3:129975841-129975841
16 DNMT1 NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile)SNV Uncertain significance 599001 rs1202584286 19:10251813-10251813 19:10141137-10141137
17 PCDH19 NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys)SNV Uncertain significance 159556 rs376390125 X:99657779-99657779 X:100402781-100402781
18 CACNA1A NM_001127221.1(CACNA1A):c.2396A>T (p.Asp799Val)SNV Uncertain significance 397544 rs1060499675 19:13410054-13410054 19:13299240-13299240
19 DNMT1 NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu)SNV Uncertain significance 373927 rs1057518774 19:10259562-10259562 19:10148886-10148886

Expression for Chorea, Childhood-Onset, with Psychomotor Retardation

Search GEO for disease gene expression data for Chorea, Childhood-Onset, with Psychomotor Retardation.

Pathways for Chorea, Childhood-Onset, with Psychomotor Retardation

GO Terms for Chorea, Childhood-Onset, with Psychomotor Retardation

Biological processes related to Chorea, Childhood-Onset, with Psychomotor Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 locomotory behavior GO:0007626 8.62 GPR88 GNAO1

Sources for Chorea, Childhood-Onset, with Psychomotor Retardation

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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19 FMA
28 GO
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30 HMDB
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32 ICD10
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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