COCPMR
MCID: CHR607
MIFTS: 46

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 chorea, benign hereditary and sydenham chorea, and has symptoms including clonus, ataxia 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, heart and testes, and related phenotypes are intellectual disability and chorea

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 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 juvenile huntington disease 11.1
43 sneddon syndrome 11.0
44 gordon holmes syndrome 11.0
45 basal ganglia calcification, idiopathic, 1 11.0
46 hyperphenylalaninemia, bh4-deficient, a 11.0
47 striatonigral degeneration, infantile 11.0
48 lesch-nyhan syndrome 11.0
49 dystonia 3, torsion, x-linked 11.0
50 spinocerebellar ataxia, autosomal recessive 4 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 chorea 31 HP:0002072
3 global developmental delay 31 HP:0001263
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:


clonus, ataxia, tremor, 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

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

(show top 50) (show all 91)
# 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 26757 5195
6 Dihydroxyphenylalanine Phase 4
7 Neurotransmitter Agents Phase 4
8 Dopamine Agents Phase 4
9 Psychotropic Drugs Phase 4
10 Analgesics Phase 4
11 Anti-Infective Agents Phase 4
12 Analgesics, Non-Narcotic Phase 4
13 Antiparkinson Agents Phase 4
14 Antiviral Agents Phase 4
15 Dopamine agonists Phase 4
16 Autonomic Agents Phase 4
17 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
18 Carbidopa, levodopa drug combination Phase 4
19 Adjuvants, Immunologic Phase 4
20 Antidepressive Agents Phase 4
21 Sympathomimetics Phase 4
22 Protective Agents Phase 4
23 Monoamine Oxidase Inhibitors Phase 4
24 Neuroprotective Agents Phase 4
25
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
26
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
27
Olanzapine Approved, Investigational Phase 3 132539-06-1 4585
28
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
29
Tetrabenazine Approved, Investigational Phase 3 58-46-8 6018
30 Tranquilizing Agents Phase 3
31 Antipsychotic Agents Phase 3
32 Dopamine Antagonists Phase 3
33 Central Nervous System Depressants Phase 3
34 Serotonin Agents Phase 3
35 Cytochrome P-450 CYP2D6 Inhibitors Phase 3
36 Anti-Bacterial Agents Phase 3
37 Gastrointestinal Agents Phase 3
38 Antiemetics Phase 3
39 Serotonin Uptake Inhibitors Phase 3
40 Tiapride Hydrochloride Phase 3
41 Adrenergic Agents Phase 3
42
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
43
Citalopram Approved Phase 2 59729-33-8 2771
44
Histamine Approved, Investigational Phase 2 51-45-6 774
45
Famotidine Approved Phase 2 76824-35-6 3325
46
Trihexyphenidyl Approved Phase 2 144-11-6, 58947-95-8 5572
47
Risperidone Approved, Investigational Phase 2 106266-06-2 5073
48
Natalizumab Approved, Investigational Phase 1, Phase 2 189261-10-7
49
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
50 Excitatory Amino Acid Antagonists Phase 2

Interventional clinical trials:

(show top 50) (show all 63)
# 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's 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 Recruiting NCT03813238 Phase 3 Deutetrabenazine;Placebo
12 Trial of Kuvan™ (Sapropterin) Treatment in Patients With Lesch Nyhan Disease Withdrawn NCT00935753 Phase 2, Phase 3 sapropterin
13 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
14 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
15 NMDA-Receptor Blockade in Huntington's Chorea Completed NCT00001930 Phase 2 Amantadine
16 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
17 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
18 A Randomized, Placebo-Controlled Pilot Study in Huntington's Disease (CIT-HD) Completed NCT00271596 Phase 2 20mg daily citalopram;Placebo
19 Atomoxetine for Attention Deficits in Adults With Mild HD: A Randomized, Placebo-Controlled Crossover Study Completed NCT00368849 Phase 2 atomoxetine;Matching Placebo
20 An 'N-of-1' Study of the Histamine H@ Antagonist, Famotidine in Levodopa-induced Dyskinesia in Parkinson's Disease Completed NCT01937078 Phase 2 Famotidine
21 Childhood Hypertonia of Central Origin: An Open Label Trial of Anticholinergic Treatment Effects Completed NCT00122044 Phase 2 trihexyphenidyl
22 A Trial of Prophylaxis for the PANDAS Subgroup Completed NCT00001359 Phase 2 Penicillin or Placebo
23 Risperidone for the Treatment of Huntington's Disease Chorea Not yet recruiting NCT04201834 Phase 2 Risperidone
24 Clinical and Neurochemical Effects of Transcranial Magnetic Stimulation (TMS) in Multiple Sclerosis Not yet recruiting NCT04062331 Phase 1, Phase 2 Placebos
25 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
26 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
27 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation for Control, Management and Treatment of HD Unknown status NCT00675077 Phase 1
28 Ursodiol in Huntington's Disease Unknown status NCT00514774 Phase 1 ursodiol;placebo
29 (+)-Alpha-Dihydrotetrabenazine Phase I Completed NCT02844179 Phase 1 HTBZ
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 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
32 The Effects of Music Therapy on Depression, Chorea and Other Symptoms of Huntington's Disease Completed NCT00178360 Phase 1
33 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
34 PINS Stimulator System for Deep Brain Stimulation in Huntington's Disease Unknown status NCT02263430
35 Exploring Hypertonia in Children With Cerebral Palsy- a Population-based Approach. Unknown status NCT01744158
36 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Unknown status NCT02340871
37 Impact of Xenazine(Tetrabenazine)on Gait and Functional Activity in Individuals With Huntington's Disease Completed NCT01451463
38 Intravenous Immunoglobulins as Effective Treatment in Sydenham's Chorea Completed NCT00615797 standard interventions penicillin VK and haloperidol
39 Characterization of Cardiac and Skeletal Myopathy, Risk Evaluation, and Phenotype-Genotype Correlation in Patients With Neuroacanthocytosis Completed NCT00007228
40 Comparative 2-D Tumor Analysis in Familial Gliomas Completed NCT00125710
41 Plasma Adiponectin Levels and Relations With Cytokines in Children With Acute Rheumatic Fever Completed NCT01886846
42 Accelerated Diffusion MRI as a Potential Image Based Biomarker for Hungtington Disease Completed NCT01884181
43 NIAID Clinical Center Genomics Opportunity Protocol Completed NCT02417766
44 Functional Neuro-Imaging of Strategy Use During Human Behavior Completed NCT00728741
45 Assessment The Effects of Proprioceptive Neuromuscular Facilitation, Myofascial Releasing Maneuvers and Home Exercises on Pain and Jaw Function in Patients With Bruxism Completed NCT03499665
46 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
47 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
48 Wearable Sensors for Quantitative Assessment of Motor Impairment in Huntington's Disease Recruiting NCT03599076
49 Deep Brain Stimulation (DBS) of the Globus Pallidus (GP) in Huntington's Disease (HD): A Prospective, Randomised, Controlled, International, Multi-centre Study Recruiting NCT02535884
50 DEEP BRAIN STIMULATION FOR SEVERE DYSTONIA ASSOCIATED WITH WILSON'S DISEASE. A Prospective Multicenter Meta-analysis of Nof1 Trials Recruiting NCT02552628

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

Publications for Chorea, Childhood-Onset, with Psychomotor Retardation

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

(show top 50) (show all 5551)
# 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
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families. 61
31571321 2020
5
Signaling molecules targeting cannabinoid receptors: Hemopressin and related peptides. 61
31831183 2020
6
Sex differences in movement disorders. 61
31900464 2020
7
Models of hyperkinetic disorders in primates. 61
31857131 2020
8
Generalized chorea associated with subcortical leukoaraiosis of Binswanger type: a case report. 61
32027572 2020
9
Severe Contralateral Striatal Hypometabolism in a Case of Diabetic Nonketotic Hyperglycemic Hemichorea on 18F-FDG PET/CT Brain. 61
31714279 2020
10
Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia. 61
31970214 2020
11
Application of a wearable switch to perform a mouse left click for a child with mix type of cerebral palsy: a single case study. 61
30729835 2020
12
Psychosis and longitudinal outcomes in Huntington disease: the COHORT Study. 61
31611263 2020
13
Therapeutic Advances for Huntington's Disease. 61
31940909 2020
14
Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis. 61
31704285 2020
15
Early-motor phenotype relates to neuropsychiatric and cognitive disorders in huntington's disease. 61
31922295 2020
16
Brain Zinc Deficiency Exacerbates Cognitive Decline in the R6/1 Model of Huntington's Disease. 61
31520307 2020
17
Armand Trousseau (1801-1867), a neurologist before neurology. 61
31924312 2020
18
Benign hereditary chorea: From benign to serious. 61
31983472 2020
19
Chorea-related mutations in PDE10A result in aberrant compartmentalization and functionality of the enzyme. 61
31871190 2020
20
Cancer-Related Fatigue: Perception of Effort or Task Failure? 61
31084200 2020
21
ATP8A2-related disorders as recessive cerebellar ataxia. 61
31612321 2020
22
Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene. 61
31759222 2020
23
Subthalamic nucleus deep brain stimulation in two siblings with chorea-acanthocytosis. 61
31938984 2020
24
A VPS13D spastic ataxia mutation disrupts the conserved adaptor binding site in yeast Vps13. 61
31943017 2020
25
Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family. 61
31741143 2020
26
Multitarget deep brain stimulation for clinically complex movement disorders. 61
31899879 2020
27
Post-Pump Chorea and Progressive Supranuclear Palsy-Like Syndrome Following Major Cardiac Surgery. 61
31970215 2020
28
Treatment of Chorea in Childhood. 61
31604647 2020
29
Preliminary data on prednisone effectiveness in children with Sydenham chorea. 61
31965299 2020
30
"Diabetic striatopathy": clinical presentations, controversy, pathogenesis, treatments, and outcomes. 61
32005905 2020
31
Complex pathophysiology of non-ketotic hyperglycemic chorea-ballism with atypical findings on brain magnetic resonance imaging. 61
31954355 2020
32
Treatment of Libman-Sacks endocarditis by combination of warfarin and immunosuppressive therapy. 61
31802766 2019
33
Deutetrabenazine for tardive dyskinesia and chorea associated with Huntington's disease: a review of clinical trial data. 61
31613641 2019
34
How different aspects of motor dysfunction influence day-to-day function in huntington's disease. 61
31609508 2019
35
A Longitudinal Wearable Sensor Study in Huntington's Disease. 61
31868675 2019
36
The spectrum of involuntary vocalizations in humans: A video atlas. 61
31651053 2019
37
Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond. 61
31904126 2019
38
Chorea-acanthocytosis: Time-dependent changes of symptoms and imaging findings. 61
31889551 2019
39
[Clinical findings of a patient with hemiballism after superficial temporal artery-middle cerebral artery anastomosis for idiopathic middle cerebral artery stenosis]. 61
31761836 2019
40
Acute hemichorea in a young type 1 diabetic. 61
31813308 2019
41
VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia. 61
31876103 2019
42
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders. 61
31397519 2019
43
[Application of high-throughput whole genome sequencing and STR typing for the analysis of chorea villus tissue samples from spontaneous abortion]. 61
31813140 2019
44
Awareness of Chorea in Huntington's Disease. 61
31707371 2019
45
Cytosolic non-vesicular dopamine accumulation as the predominant mechanism for developing non-DOPA responsive parkinsonism in late-stage Huntington disease. 61
31466019 2019
46
HDQLIFE and Neuro-QoL Physical Function Measures: Responsiveness in Persons With Huntington's Disease. 61
31724237 2019
47
The immunobiology of autoimmune encephalitides. 61
31611142 2019
48
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 2019
49
A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs. 61
31775676 2019
50
Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility. 61
31745488 2019

Variations for Chorea, Childhood-Onset, with Psychomotor Retardation

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

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FRRS1L NM_014334.3(FRRS1L):c.436dup (p.Ile146fs)duplication Pathogenic 218154 rs878853283 9:111911955-111911956 9:109149675-109149676
2 GPR88 NM_022049.3(GPR88):c.873C>A (p.Cys291Ter)SNV Pathogenic 225846 rs875989788 1:101005395-101005395 1:100539839-100539839
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 PDE2A NM_002599.5(PDE2A):c.1180C>T (p.Gln394Ter)SNV Pathogenic 689477 11:72297116-72297116 11:72586072-72586072
6 FRRS1L NM_014334.3(FRRS1L):c.737_739del (p.Gly246del)deletion Pathogenic/Likely pathogenic 218153 rs878853282 9:111903746-111903748 9:109141466-109141468
7 SLC9A6 NM_001042537.1(SLC9A6):c.1728-19_1728-3deldeletion Likely pathogenic 598968 rs1569525894 X:135122214-135122230 X:136040055-136040071
8 PCDH19 NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys)SNV Uncertain significance 159556 rs376390125 X:99657779-99657779 X:100402781-100402781
9 DNMT1 NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu)SNV Uncertain significance 373927 rs1057518774 19:10259562-10259562 19:10148886-10148886
10 CACNA1A NM_001127221.1(CACNA1A):c.2396A>T (p.Asp799Val)SNV Uncertain significance 397544 rs1060499675 19:13410054-13410054 19:13299240-13299240
11 CASR NM_000388.4(CASR):c.1609-27C>TSNV Uncertain significance 598997 rs4678175 3:122000933-122000933 3:122282086-122282086
12 TRH NM_007117.5(TRH):c.25G>A (p.Ala9Thr)SNV Uncertain significance 598998 rs772388530 3:129694684-129694684 3:129975841-129975841
13 DNMT1 NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile)SNV Uncertain significance 599001 rs1202584286 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 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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