COCPMR
MCID: CHR607
MIFTS: 45

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 57 74 6
Chorea 44 40 17 72
Cocpmr 57 74

Characteristics:

OMIM:

57
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:

32
chorea, childhood-onset, with psychomotor retardation:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616939
UMLS 72 C0008489

Summaries for Chorea, Childhood-Onset, with Psychomotor Retardation

NINDS : 54 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 chorea, benign hereditary and sydenham chorea, and has symptoms including ataxia, tremor and clonus. 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 chorea

UniProtKB/Swiss-Prot : 74 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 536)
# Related Disease Score Top Affiliating Genes
1 chorea, benign hereditary 12.9
2 sydenham chorea 12.9
3 chorea gravidarum 12.6
4 choreatic disease 12.5
5 choreoacanthocytosis 12.5
6 huntington disease 12.4
7 chorea, remitting, with nystagmus and cataract 12.4
8 chorea, benign familial 12.3
9 morvan's fibrillary chorea 12.3
10 postinfectious autoimmune disease with chorea 12.1
11 neurodegenerative disease with chorea 12.1
12 striatal degeneration, autosomal dominant 2 11.9
13 pontocerebellar hypoplasia, type 2e 11.9
14 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.8
15 3-methylglutaconic aciduria, type iii 11.8
16 dentatorubral-pallidoluysian atrophy 11.6
17 optic atrophy 3, autosomal dominant 11.6
18 mcleod syndrome 11.5
19 aceruloplasminemia 11.5
20 rheumatic fever 11.5
21 spinocerebellar ataxia 17 11.5
22 rheumatic encephalitis 11.5
23 antiphospholipid syndrome 11.4
24 moyamoya disease 1 11.4
25 tardive dyskinesia 11.4
26 huntington disease-like 2 11.4
27 ataxia-telangiectasia 11.4
28 spinocerebellar ataxia 1 11.3
29 pontocerebellar hypoplasia 11.3
30 episodic kinesigenic dyskinesia 1 11.3
31 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.3
32 pontocerebellar hypoplasia, type 2a 11.3
33 neurodegeneration with brain iron accumulation 3 11.3
34 spinocerebellar ataxia 2 11.2
35 pontocerebellar hypoplasia, type 2b 11.2
36 pontocerebellar hypoplasia, type 2c 11.2
37 muscular dystrophy, limb-girdle, autosomal recessive 18 11.2
38 myopathy with extrapyramidal signs 11.2
39 neurodevelopmental disorder with impaired speech and hyperkinetic movements 11.2
40 huntington disease-like syndrome 11.2
41 neuropathy, hereditary sensory and autonomic, type iia 11.1
42 sneddon syndrome 11.0
43 gordon holmes syndrome 11.0
44 basal ganglia calcification, idiopathic, 1 11.0
45 hyperphenylalaninemia, bh4-deficient, a 11.0
46 striatonigral degeneration, infantile 11.0
47 lesch-nyhan syndrome 11.0
48 spinocerebellar ataxia, autosomal recessive 4 11.0
49 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 11.0
50 parkinsonism-dystonia, infantile, 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:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 chorea 32 HP:0002072
3 global developmental delay 32 HP:0001263
4 poor speech 32 HP:0002465
5 abnormal head movements 32 HP:0002457

Symptoms via clinical synopsis from OMIM:

57
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, tremor, clonus, myoclonus, dystonia, involuntary movements, 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

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Amantadine For the chemoprophylaxis, prophylaxis, and treatment of signs and symptoms of infection caused by various strains of influenza A virus. Also for the treatment of parkinsonism and drug-induced extrapyramidal reactions. DB00915
2 Fluphenazine For management of manifestations of psychotic disorders. DB00623

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

(show top 50) (show all 93)
# 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 Dihydroxyphenylalanine Phase 4
7 Neurotransmitter Agents Phase 4
8 Analgesics Phase 4
9 Peripheral Nervous System Agents Phase 4
10 Antiparkinson Agents Phase 4
11 Analgesics, Non-Narcotic Phase 4
12 Anti-Infective Agents Phase 4
13 Antiviral Agents Phase 4
14 Dopamine Agents Phase 4
15 Psychotropic Drugs Phase 4
16 Autonomic Agents Phase 4
17 Adjuvants, Immunologic Phase 4
18 Dopamine agonists Phase 4
19 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
20 Carbidopa, levodopa drug combination Phase 4
21 Antidepressive Agents Phase 4
22 Sympathomimetics Phase 4
23 Cardiotonic Agents Phase 4
24 Protective Agents Phase 4
25 Neuroprotective Agents Phase 4
26 Monoamine Oxidase Inhibitors Phase 4
27
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
28
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
29
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
30
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
31
Tetrabenazine Approved, Investigational Phase 3 58-46-8 6018
32 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
33 Antiemetics Phase 3
34 Tranquilizing Agents Phase 3
35 Central Nervous System Depressants Phase 3
36 Gastrointestinal Agents Phase 3
37 Anti-Bacterial Agents Phase 3
38 Antipsychotic Agents Phase 3
39 Dopamine Antagonists Phase 3
40 Serotonin Uptake Inhibitors Phase 3
41 Serotonin Agents Phase 3
42 Tiapride Hydrochloride Phase 3
43 Adrenergic Agents Phase 3
44 Neurotransmitter Uptake Inhibitors Phase 3
45
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
46
Citalopram Approved Phase 2 59729-33-8 2771
47
Histamine Approved, Investigational Phase 2 51-45-6 774
48
Famotidine Approved Phase 2 76824-35-6 3325
49
Trihexyphenidyl Approved Phase 2 144-11-6, 58947-95-8 5572
50
Natalizumab Approved, Investigational Phase 1, Phase 2 189261-10-7

Interventional clinical trials:

(show top 50) (show all 58)
# 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 Randomized, Double-Blind, Placebo-Controlled Study of TEV-50717 (Deutetrabenazine) for the Treatment of Dyskinesia in Cerebral Palsy in Children and Adolescents Recruiting NCT03813238 Phase 3 Deutetrabenazine;Placebo
11 Trial of Kuvan™ (Sapropterin) Treatment in Patients With Lesch Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3 sapropterin
12 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
13 NMDA-Receptor Blockade in Huntington's Chorea Completed NCT00001930 Phase 2 Amantadine
14 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
15 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
16 A Randomized, Placebo-Controlled Pilot Study in Huntington's Disease (CIT-HD) Completed NCT00271596 Phase 2 20mg daily citalopram;Placebo
17 Atomoxetine for Attention Deficits in Adults With Mild HD: A Randomized, Placebo-Controlled Crossover Study Completed NCT00368849 Phase 2 atomoxetine;Matching Placebo
18 An 'N-of-1' Study of the Histamine H@ Antagonist, Famotidine in Levodopa-induced Dyskinesia in Parkinson's Disease Completed NCT01937078 Phase 2 Famotidine
19 Childhood Hypertonia of Central Origin: An Open Label Trial of Anticholinergic Treatment Effects Completed NCT00122044 Phase 2 trihexyphenidyl
20 A Trial of Prophylaxis for the PANDAS Subgroup Completed NCT00001359 Phase 2 Penicillin or Placebo
21 Phase IIa, Double-blind, Randomized, Placebo-controlled Study of the Efficacy and Safety of SOM3355 in Huntington's Disease (HD) Patients With Chorea Movements. Active, not recruiting NCT03575676 Phase 2 SOM3355 100mg BID;SOM3355 200mg BID;Placebo BID
22 Clinical and Neurochemical Effects of Transcranial Magnetic Stimulation (TMS) in Multiple Sclerosis Not yet recruiting NCT04062331 Phase 1, Phase 2 Placebos
23 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
24 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
25 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation for Control, Management and Treatment of HD Unknown status NCT00675077 Phase 1
26 Ursodiol in Huntington's Disease Unknown status NCT00514774 Phase 1 ursodiol;placebo
27 (+)-Alpha-Dihydrotetrabenazine Phase I Completed NCT02844179 Phase 1 HTBZ
28 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
29 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
30 The Effects of Music Therapy on Depression, Chorea and Other Symptoms of Huntington's Disease Completed NCT00178360 Phase 1
31 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
32 PINS Stimulator System for Deep Brain Stimulation in Huntington's Disease Unknown status NCT02263430
33 Exploring Hypertonia in Children With Cerebral Palsy- a Population-based Approach. Unknown status NCT01744158
34 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Unknown status NCT02340871
35 Impact of Xenazine(Tetrabenazine)on Gait and Functional Activity in Individuals With Huntington's Disease Completed NCT01451463
36 Intravenous Immunoglobulins as Effective Treatment in Sydenham's Chorea Completed NCT00615797 standard interventions penicillin VK and haloperidol
37 Characterization of Cardiac and Skeletal Myopathy, Risk Evaluation, and Phenotype-Genotype Correlation in Patients With Neuroacanthocytosis Completed NCT00007228
38 Plasma Adiponectin Levels and Relations With Cytokines in Children With Acute Rheumatic Fever Completed NCT01886846
39 Accelerated Diffusion MRI as a Potential Image Based Biomarker for Hungtington Disease Completed NCT01884181
40 Comparative 2-D Tumor Analysis in Familial Gliomas Completed NCT00125710
41 NIAID Clinical Center Genomics Opportunity Protocol Completed NCT02417766
42 Functional Neuro-Imaging of Strategy Use During Human Behavior Completed NCT00728741
43 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
44 Assessment The Effects of Proprioceptive Neuromuscular Facilitation, Myofascial Releasing Maneuvers and Home Exercises on Pain and Jaw Function in Patients With Bruxism Completed NCT03499665
45 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
46 Wearable Sensors for Quantitative Assessment of Motor Impairment in Huntington's Disease Recruiting NCT03599076
47 Prognosis of Paroxysmal Kinesigenic Choreoathetosis in Korea: a Prospective, Observational Study Recruiting NCT04023656
48 Deep Brain Stimulation (DBS) of the Globus Pallidus (GP) in Huntington's Disease (HD): A Prospective, Randomised, Controlled, International, Multi-centre Study Recruiting NCT02535884
49 DEEP BRAIN STIMULATION FOR SEVERE DYSTONIA ASSOCIATED WITH WILSON'S DISEASE. A Prospective Multicenter Meta-analysis of Nof1 Trials Recruiting NCT02552628
50 A Training Protocol for the Use of Botulinum Toxin in the Treatment of Neurological Disorders Recruiting NCT00001208

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

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


Amantadine
Fluphenazine

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:

41
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 5479)
# Title Authors PMID Year
1
Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities. 38 8 71
27123486 2016
2
Mice Lacking GPR88 Show Motor Deficit, Improved Spatial Learning, and Low Anxiety Reversed by Delta Opioid Antagonist. 8
26188600 2016
3
Lack of GPR88 enhances medium spiny neuron activity and alters motor- and cue-dependent behaviors. 8
23064379 2012
4
Hyperkinetic movement disorders in congenital disorders of glycosylation. 38
31132195 2019
5
Chorea. 38
31356291 2019
6
Efficacy of ethyl-EPA as a treatment for Huntington disease: a systematic review and meta-analysis. 38
30890195 2019
7
Expansion of the clinical spectrum associated with AARS2-related disorders. 38
31099476 2019
8
Cyclin-Dependent Kinase 5 Dysfunction Contributes to Depressive-like Behaviors in Huntington's Disease by Altering the DARPP-32 Phosphorylation Status in the Nucleus Accumbens. 38
31060804 2019
9
Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders. 38
31236685 2019
10
Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update-I. Hypokinetic-rigid movement disorders. 38
31214855 2019
11
Phosphodiesterase 10A IgG: A novel biomarker of paraneoplastic neurologic autoimmunity. 38
31315972 2019
12
Expression and Functional Characterization of Missense Mutations in ATP8A2 Linked to Severe Neurological Disorders. 38
31397519 2019
13
Corrigendum to "Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum" [Brain Dev. 41 (2019) 250-256]. 38
31053344 2019
14
Movement Disorders in Children. 38
31356295 2019
15
Clinical phenotype in carriers of intermediate alleles in the huntingtin gene. 38
31103960 2019
16
Glycation in Huntington's Disease: A Possible Modifier and Target for Intervention. 38
31322580 2019
17
Addressing the Value of Multidisciplinary Clinical Care in Huntington's Disease: A Snapshot of a New Huntington's Disease Center. 38
31381522 2019
18
Molecular Mimicry, Autoimmunity, and Infection: The Cross-Reactive Antigens of Group A Streptococci and their Sequelae. 38
31373269 2019
19
Clinicopathological differences between the motor onset and psychiatric onset of Huntington's disease, focusing on the nucleus accumbens. 38
31264738 2019
20
Spectrum of Movement Disorders in Patients With Neuroinvasive West Nile Virus Infection. 38
31392241 2019
21
Bilateral Chorea Associated with Acute Caudate Nucleus Infarctions. 38
31199214 2019
22
Neurological profiles beyond the sleep disorder in patients with anti-IgLON5 disease. 38
30694925 2019
23
Autosomal Dominant Gene Negative Frontotemporal Dementia-Think of SCA17. 38
30617627 2019
24
Sydenham's Chorea. 38
31003820 2019
25
Novel pathogenic VPS13A gene mutations in Japanese patients with chorea-acanthocytosis. 38
31192303 2019
26
Novel pathogenic XK mutations in McLeod syndrome and interaction between XK protein and chorein. 38
31086825 2019
27
Neuroacanthocytosis: a case report of chorea-acanthocytosis. 38
31321962 2019
28
TETRABENAZINE FACILITATES EXOCYTOSIS BY ENHANCING CALCIUM-INDUCED CALCIUM RELEASE THROUGH RYANODINE RECEPTORS. 38
31209099 2019
29
Hemichorea after hypoglycemic episodes with negative MRI findings in an elderly woman with poorly controlled type 2 diabetes mellitus: a case report. 38
31202275 2019
30
PANDAS and PANS: Clinical, Neuropsychological, and Biological Characterization of a Monocentric Series of Patients and Proposal for a Diagnostic Protocol. 38
30724577 2019
31
Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families. 38
31126790 2019
32
Cancer-Related Fatigue: Perception of Effort or Task Failure? 38
31084200 2019
33
High Frequency Bilateral Globus Pallidus Interna Deep Brain Stimulation Can Improve Both Chorea and Dysarthria in Chorea-acanthocytosis. 38
30658884 2019
34
MECR-Related Neurologic Disorder 38
31070877 2019
35
Genetic mimics of cerebral palsy. 38
30913345 2019
36
[Acute Generalized Chorea, Dystonia and Brain Calcifications: A Case Report]. 38
31166902 2019
37
Acute Hemiballismus as the Presenting Feature of Parietal Lobe Infarction. 38
31333912 2019
38
Brain structure in juvenile-onset Huntington disease. 38
30971481 2019
39
Paliperidone Long-Acting Injections in Huntington's Disease for Motor and Behavioural Disturbances. 38
30810915 2019
40
Pathoarchitectonics of the cerebral cortex in chorea-acanthocytosis and Huntington's disease. 38
29722054 2019
41
PNKP deficiency mimicking a benign hereditary chorea: The misleading presentation of a neurodegenerative disorder. 38
30956058 2019
42
Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes. 38
31061838 2019
43
Paroxysmal Asymmetric Dystonic Arm Posturing-A Less Recognized but Characteristic Manifestation of ATP1A3-related disease. 38
31061839 2019
44
Neurologic impairment in Wilson disease. 38
31179301 2019
45
[Chorea secondary to non-ketotic hyperglycaemia: presentation of a case]. 38
31031063 2019
46
Non paraneoplastic immune-mediated calcium channel chorea. 38
31191155 2019
47
Movement disorders phenomenology in focal motor seizures. 38
30361137 2019
48
Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review. 38
30642806 2019
49
Life expectancy and mortality in chorea-acanthocytosis and McLeod syndrome. 38
30245172 2019
50
The Effects of Dual-Task Cognitive Interference and Environmental Challenges on Balance in Huntington's Disease. 38
30949551 2019

Variations for Chorea, Childhood-Onset, with Psychomotor Retardation

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

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 9:111899809-111899809 9:109137529-109137529
2 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 9:111903640-111903640 9:109141360-109141360
3 FRRS1L NM_014334.3(FRRS1L): c.436dup (p.Ile146fs) duplication Pathogenic rs878853283 9:111911956-111911956 9:109149676-109149676
4 GPR88 NM_022049.3(GPR88): c.873C> A (p.Cys291Ter) single nucleotide variant Pathogenic rs875989788 1:101005395-101005395 1:100539839-100539839
5 FRRS1L NM_014334.3(FRRS1L): c.737_739del (p.Gly246del) deletion Pathogenic/Likely pathogenic rs878853282 9:111903746-111903748 9:109141466-109141468
6 SLC9A6 NM_001042537.1(SLC9A6): c.1728-19_1728-3delTCTTCCTTAACCACCGC deletion Likely pathogenic X:135122216-135122232 X:136040057-136040073
7 DNMT1 NM_001130823.3(DNMT1): c.2718C> G (p.Phe906Leu) single nucleotide variant Uncertain significance rs1057518774 19:10259562-10259562 19:10148886-10148886
8 CACNA1A NM_001127221.1(CACNA1A): c.2396A> T (p.Asp799Val) single nucleotide variant Uncertain significance rs1060499675 19:13410054-13410054 19:13299240-13299240
9 PCDH19 NM_001184880.2(PCDH19): c.2359C> T (p.Arg787Cys) single nucleotide variant Uncertain significance rs376390125 X:99657779-99657779 X:100402781-100402781
10 CASR NM_000388.4(CASR): c.1609-27C> T single nucleotide variant Uncertain significance 3:122000933-122000933 3:122282086-122282086
11 TRH NM_007117.5(TRH): c.25G> A (p.Ala9Thr) single nucleotide variant Uncertain significance 3:129694684-129694684 3:129975841-129975841
12 DNMT1 NM_001130823.3(DNMT1): c.3362G> T (p.Ser1121Ile) single nucleotide variant Uncertain significance 19:10251813-10251813 19:10141137-10141137

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

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

# Name GO ID Score Top Affiliating Genes
1 cellular_component GO:0005575 8.62 GPR88 FRRS1L

Sources for Chorea, Childhood-Onset, with Psychomotor Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....