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COCPMR
MCID: CHR607
MIFTS: 39

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

Categories: Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Chorea, Childhood-Onset, with Psychomotor Retardation

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

Name: Chorea, Childhood-Onset, with Psychomotor Retardation 57 73 36 6
Cocpmr 57 73
Chorea 44 71

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

MalaCards categories:
Global: Genetic diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 616939
KEGG 36 H02367
UMLS 71 C0008489
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Summaries for Chorea, Childhood-Onset, with Psychomotor Retardation

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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.

MalaCards based summary : Chorea, Childhood-Onset, with Psychomotor Retardation, also known as cocpmr, is related to choreatic disease and chorea, benign hereditary, 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 Tetrabenazine and Paroxetine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and thyroid, 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.

More information from OMIM: 616939
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Related Diseases for Chorea, Childhood-Onset, with Psychomotor Retardation

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

(show top 50) (show all 525)
# Related Disease Score Top Affiliating Genes
1 choreatic disease 11.8
2 chorea, benign hereditary 11.8
3 sydenham chorea 11.8
4 choreoacanthocytosis 11.8
5 huntington disease 11.7
6 chorea gravidarum 11.5
7 3-methylglutaconic aciduria, type iii 11.3
8 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.2
9 striatal degeneration, autosomal dominant 2 11.2
10 chorea, remitting, with nystagmus and cataract 11.2
11 pontocerebellar hypoplasia, type 2e 11.1
12 dentatorubral-pallidoluysian atrophy 11.1
13 rheumatic fever 11.0
14 chorea, benign familial 11.0
15 mcleod syndrome 11.0
16 morvan's fibrillary chorea 11.0
17 episodic kinesigenic dyskinesia 1 11.0
18 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.0
19 pontocerebellar hypoplasia, type 2a 11.0
20 neurodegeneration with brain iron accumulation 3 11.0
21 spinocerebellar ataxia 17 11.0
22 aceruloplasminemia 11.0
23 antiphospholipid syndrome 10.9
24 spinocerebellar ataxia 2 10.9
25 pontocerebellar hypoplasia, type 2b 10.9
26 pontocerebellar hypoplasia, type 2c 10.9
27 muscular dystrophy, limb-girdle, autosomal recessive 18 10.9
28 myopathy with extrapyramidal signs 10.9
29 neurodevelopmental disorder with impaired speech and hyperkinetic movements 10.9
30 huntington disease-like syndrome 10.9
31 hyperthyroidism 10.9
32 moyamoya disease 1 10.9
33 tardive dyskinesia 10.9
34 neuropathy, hereditary sensory and autonomic, type iia 10.9
35 juvenile huntington disease 10.9
36 postinfectious autoimmune disease with chorea 10.9
37 neurodegenerative disease with chorea 10.9
38 huntington disease-like 2 10.9
39 basal ganglia calcification 10.8
40 ataxia-telangiectasia 10.8
41 pontocerebellar hypoplasia 10.8
42 paroxysmal nonkinesigenic dyskinesia 1 10.8
43 glycine encephalopathy 10.8
44 dyskinesia, familial, with facial myokymia 10.8
45 intellectual developmental disorder with paroxysmal dyskinesia or seizures 10.8
46 abetalipoproteinemia 10.8
47 spinocerebellar ataxia 1 10.8
48 sneddon syndrome 10.8
49 gordon holmes syndrome 10.8
50 basal ganglia calcification, idiopathic, 1 10.8

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



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

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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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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


clonus, ataxia, tremor, myoclonus, involuntary movements, dystonia, athetosis, other symptoms involving nervous and musculoskeletal systems, muscular fasciculation, spasm, synkinesis, recurrent muscle twitches (symptom)
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Drugs & Therapeutics for Chorea, Childhood-Onset, with Psychomotor Retardation

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

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tetrabenazine Approved, Investigational Phase 3 58-46-8 6018
2
Paroxetine Approved, Investigational Phase 3 61869-08-7 43815
3
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
4 Adrenergic Agents Phase 3
5
Amantadine Approved Phase 2 768-94-5 2130
6
Citalopram Approved Phase 2 59729-33-8 2771
7
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
8
Risperidone Approved, Investigational Phase 2 106266-06-2 5073
9
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
10 Anti-Infective Agents Phase 2
11 Antiparkinson Agents Phase 2
12 Excitatory Amino Acid Antagonists Phase 2
13 Antiviral Agents Phase 2
14 Analgesics, Non-Narcotic Phase 2
15 Analgesics Phase 2
16 Antidepressive Agents Phase 2
17 Serotonin Uptake Inhibitors Phase 2
18 Atomoxetine Hydrochloride Phase 2
19 Neurotransmitter Agents Phase 2
20 Dopamine Agents Phase 2
21 Dopamine Antagonists Phase 2
22 Psychotropic Drugs Phase 2
23 Antipsychotic Agents Phase 2
24
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
25
Ursodeoxycholic acid Approved, Investigational Phase 1 128-13-2 31401
26
Tauroursodeoxycholic acid Experimental, Investigational Phase 1 14605-22-2 12443252
27
Penicillin V Approved, Vet_approved 87-08-1 6869
28
Haloperidol Approved 52-86-8 3559
29 Gastrointestinal Agents
30 Haloperidol decanoate
31 penicillins
32 gamma-Globulins
33 Immunoglobulins, Intravenous
34 Anti-Bacterial Agents
35 Rho(D) Immune Globulin
36 Antiemetics
37 Immunoglobulins
38 Immunologic Factors
39 Antibodies
40 Dopamine agonists
41 Autoantibodies

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 A Randomized, Double-Blind, Placebo-Controlled Study of Tetrabenazine for the Treatment of Huntington's Chorea Completed NCT00219804 Phase 3 tetrabenazine or placebo
4 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
5 Open-Label Rollover Study for Continuing Valbenazine Administration for the Treatment of Chorea Associated With Huntington Disease Enrolling by invitation NCT04400331 Phase 3 Valbenazine
6 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
7 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
8 NMDA-Receptor Blockade in Huntington's Chorea Completed NCT00001930 Phase 2 Amantadine
9 A Randomized, Placebo-Controlled Pilot Study in Huntington's Disease (CIT-HD) Completed NCT00271596 Phase 2 20mg daily citalopram;Placebo
10 Atomoxetine for Attention Deficits in Adults With Mild HD: A Randomized, Placebo-Controlled Crossover Study Completed NCT00368849 Phase 2 atomoxetine;Matching Placebo
11 Risperidone for the Treatment of Huntington's Disease Chorea Recruiting NCT04201834 Phase 2 Risperidone
12 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
13 Ursodiol in Huntington's Disease Unknown status NCT00514774 Phase 1 ursodiol;placebo
14 The Effects of Music Therapy on Depression, Chorea and Other Symptoms of Huntington's Disease Completed NCT00178360 Phase 1
15 Wearable Sensors for Quantitative Assessment of Motor Impairment in Huntington's Disease Unknown status NCT03599076
16 Exploring Hypertonia in Children With Cerebral Palsy- a Population-based Approach. Unknown status NCT01744158
17 Intravenous Immunoglobulins as Effective Treatment in Sydenham's Chorea Completed NCT00615797 standard interventions penicillin VK and haloperidol
18 Characterization of Cardiac and Skeletal Myopathy, Risk Evaluation, and Phenotype-Genotype Correlation in Patients With Neuroacanthocytosis Completed NCT00007228
19 Compassionate Use of Tetrabenazine in the Treatment of Hyperkinesias Available NCT00642057 tetrabenazine
20 Sydenham's Chorea: Is There a Link Between Neuropsychiatric Symptoms and Anti-dopamine Receptor Autoantibodies? Enrolling by invitation NCT04084977
21 Deep Brain Stimulation Treatment for Chorea in Huntington's Disease Not yet recruiting NCT04244513

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

Cochrane evidence based reviews: chorea

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

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

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

40
Brain, Heart, Thyroid, Cortex, Globus Pallidus, Eye, Caudate Nucleus
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Publications for Chorea, Childhood-Onset, with Psychomotor Retardation

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

(show top 50) (show all 5728)
# Title Authors PMID Year
1
Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities. 61 57 6
27123486 2016
2
Mice Lacking GPR88 Show Motor Deficit, Improved Spatial Learning, and Low Anxiety Reversed by Delta Opioid Antagonist. 57
26188600 2016
3
Lack of GPR88 enhances medium spiny neuron activity and alters motor- and cue-dependent behaviors. 57
23064379 2012
4
Diagnostic approach to paediatric movement disorders: a clinical practice guide. 61
33150968 2021
5
Movement disorders in primary central nervous system lymphoma: two unreported cases and a review of literature. 61
33443666 2021
6
Management of Parkinson's disease and other movement disorders in women of childbearing age: Part 2. 61
32980194 2021
7
Transient bilateral chorea secondary to digoxin toxicity in a female with acute kidney injury: a case report. 61
33569535 2021
8
A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants. 61
33211350 2021
9
Movement Disorder in Wilson Disease: Correlation with MRI and Biomarkers of Cell Injury. 61
32662046 2021
10
Estimation of a preliminary therapeutic reference range for children and adolescents with tic disorders treated with tiapride. 61
32986159 2021
11
Phosphine modification of proline-glycine-proline tripeptide and study of its neuroprotective properties. 61
33412416 2021
12
Chorea as a paraneoplastic syndrome heralding the transformation of non-Hodgkin lymphoma. 61
33438759 2021
13
Pimozide and pancreatic cancer in diabetic chorea: a case report. 61
33491547 2021
14
Rational approaches for the design of various GABA modulators and their clinical progression. 61
32170466 2021
15
Does pallidal neuromodulation influence cognitive decline in Huntington's disease? 61
32886253 2021
16
False-Negative Tests in Huntington's Disease: a new variant within primer hybridization sitee. 61
33576024 2021
17
State-of-the-art pharmacological approaches to reduce chorea in Huntington's disease. 61
33550875 2021
18
Late-Onset Tay-Sachs Disease in an Irish Family. 61
33426165 2021
19
Risk factors and prognosis of adult-onset post-pump chorea. 61
33516056 2021
20
Sydenham Chorea: Putaminal Enlargement. 61
32851928 2021
21
Late-Onset Chorea in JAK2-Associated Essential Thrombocythemia. 61
33426172 2021
22
Generalized Chorea Due to Secondary Polycythemia Responding to Phlebotomy. 61
33121224 2021
23
Olanzapine Treatment for Chorea in a Patient With Delayed Neuropsychiatric Syndrome After Carbon Monoxide Intoxication. 61
33491965 2021
24
Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review. 61
33490948 2021
25
[Effect of electroacupuncture on mitochondrial function in mice with Parkinson's disease]. 61
33559421 2021
26
A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients. 61
33578253 2021
27
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1-disease. 61
33495376 2021
28
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency. 61
33506479 2021
29
A case of hemichorea in RNF213-related vasculopathy. 61
33482763 2021
30
"Neuroacanthocytosis" - Overdue for a Taxonomic Update. 61
33510935 2021
31
Hair dysmorphology in the R6/1 and R6/2 mouse models of Huntington's disease. 61
32898606 2021
32
[Recurrent psychotic symtoms over several years were caused by Huntington's disease]. 61
33474718 2021
33
Congenital portosystemic shunt occlusion with an Amplatzer PFO occlusion device: a case report. 61
33427962 2021
34
A novel therapeutic approach using the Zipper method to treat chorea in a pediatric-onset systemic lupus erythematosus patient. 61
33413004 2021
35
Chorea as a Valuable Physical Exam Finding of Uncontrolled Hyperglycemia. 61
33372672 2020
36
SQSTM1 mutation: Description of the first Tunisian case and literature review. 61
33135846 2020
37
Scientific impact of movement disorders research from Southeast Asia: A bibliometric analysis. 61
33158748 2020
38
Obstruction and ischaemia due to caecal volvulus in Huntington's chorea. 61
33051047 2020
39
Anti-CV2/CRMP5 antibody-positive paraneoplastic neurological syndromes with chronic intestinal pseudo-obstruction in a small-cell lung cancer patient: a case report and literature review. 61
33305627 2020
40
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant. 61
32392611 2020
41
[Bertolt Brecht. Did he really have rheumatic fever?] 61
32761253 2020
42
Heterozygous variants in DCC: Beyond congenital mirror movements. 61
33209984 2020
43
[A case of anti-SRY-Related HMG-Box Gene 1 (SOX1) antibody-positive chorea]. 61
33229831 2020
44
Bioinformatic analysis of a microRNA regulatory network in Huntington's disease. 61
33378838 2020
45
Huntington's disease in Turkey: genetic counseling, clinical features, and outcome. 61
33377823 2020
46
Huntington's disease-like 2: a phenocopy not to miss. 61
32994366 2020
47
FXTAS patient presenting as Huntington-like generalized chorea. 61
33257027 2020
48
A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype. 61
33200438 2020
49
Huntington's chorea and Sydenham's chorea: First ever report of CO-occurrence. 61
32758896 2020
50
Efficacy of levetiracetam in the treatment of Sydenham chorea. 61
32445412 2020
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Variations for Chorea, Childhood-Onset, with Psychomotor Retardation

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GPR88 NM_022049.3(GPR88):c.873C>A (p.Cys291Ter) SNV Pathogenic 225846 rs875989788 1:101005395-101005395 1:100539839-100539839
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Expression for Chorea, Childhood-Onset, with Psychomotor Retardation

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

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

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Sources for Chorea, Childhood-Onset, with Psychomotor Retardation

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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