COCPMR
MCID: CHR607
MIFTS: 25

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 58 76 6
Cocpmr 58 76
Chorea 45 74

Characteristics:

OMIM:

58
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:

33
chorea, childhood-onset, with psychomotor retardation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chorea, Childhood-Onset, with Psychomotor Retardation

NINDS : 55 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 cocpmr, 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). Affiliated tissues include brain, and related phenotypes are intellectual disability and chorea

UniProtKB/Swiss-Prot : 76 Chorea, childhood-onset, with psychomotor retardation: An autosomal recessive neurodevelopmental disorder characterized by abnormal involuntary movements, marked speech delay, intellectual disability and learning difficulties.

Description 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 270)
# Related Disease Score Top Affiliating Genes
1 chorea, benign hereditary 12.8
2 sydenham chorea 12.7
3 chorea gravidarum 12.5
4 choreatic disease 12.4
5 chorea minor 12.3
6 choreoacanthocytosis 12.3
7 chorea, remitting, with nystagmus and cataract 12.2
8 huntington disease 12.2
9 morvan's fibrillary chorea 12.2
10 chorea, benign familial 12.1
11 pontocerebellar hypoplasia, type 2e 11.8
12 3-methylglutaconic aciduria, type iii 11.6
13 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.6
14 striatal degeneration, autosomal dominant 2 11.6
15 dentatorubral-pallidoluysian atrophy 11.5
16 rheumatic fever 11.3
17 tardive dyskinesia 11.3
18 aceruloplasminemia 11.3
19 ataxia-telangiectasia 11.2
20 optic atrophy 3, autosomal dominant 11.2
21 pontocerebellar hypoplasia, type 2a 11.1
22 episodic kinesigenic dyskinesia 1 11.1
23 neurodegeneration with brain iron accumulation 3 11.1
24 spinocerebellar ataxia 17 11.1
25 pontocerebellar hypoplasia, type 2b 11.1
26 pontocerebellar hypoplasia, type 2c 11.1
27 muscular dystrophy, limb-girdle, autosomal recessive 18 11.1
28 myopathy with extrapyramidal signs 11.1
29 rheumatic encephalitis 11.1
30 neuropathy, hereditary sensory and autonomic, type iia 11.0
31 sneddon syndrome 10.9
32 spinocerebellar ataxia 2 10.9
33 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.9
34 gordon holmes syndrome 10.9
35 basal ganglia calcification, idiopathic, 1 10.9
36 hyperphenylalaninemia, bh4-deficient, a 10.9
37 striatonigral degeneration, infantile 10.9
38 huntington disease-like 2 10.9
39 spinocerebellar ataxia, autosomal recessive 4 10.9
40 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.9
41 parkinsonism-dystonia, infantile, 1 10.9
42 pontocerebellar hypoplasia, type 8 10.9
43 microphthalmia, syndromic 12 10.9
44 basal ganglia calcification, idiopathic, 6 10.9
45 lopes-maciel-rodan syndrome 10.9
46 neurodevelopmental disorder with involuntary movements 10.9
47 primary familial brain calcification 10.9
48 gnao1 encephalopathy 10.9
49 paroxysomal nonkinesigenic dyskinesia 10.9
50 x-linked dystonia-parkinsonism/lubag 10.9

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:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 chorea 33 HP:0002072
3 global developmental delay 33 HP:0001263
4 poor speech 33 HP:0002465
5 abnormal head movements 33 HP:0002457

Symptoms via clinical synopsis from OMIM:

58
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

Search Clinical Trials , 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:

42
Brain

Publications for Chorea, Childhood-Onset, with Psychomotor Retardation

Variations for Chorea, Childhood-Onset, with Psychomotor Retardation

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

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCDH19 NM_001105243.1(PCDH19): c.2218C> T (p.Arg740Cys) single nucleotide variant Uncertain significance rs376390125 GRCh37 Chromosome X, 99657779: 99657779
2 PCDH19 NM_001105243.1(PCDH19): c.2218C> T (p.Arg740Cys) single nucleotide variant Uncertain significance rs376390125 GRCh38 Chromosome X, 100402781: 100402781
3 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 GRCh37 Chromosome 9, 111899809: 111899809
4 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 GRCh38 Chromosome 9, 109137529: 109137529
5 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh38 Chromosome 9, 109141360: 109141360
6 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh37 Chromosome 9, 111903640: 111903640
7 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Pathogenic/Likely pathogenic rs878853282 GRCh38 Chromosome 9, 109141466: 109141468
8 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Pathogenic/Likely pathogenic rs878853282 GRCh37 Chromosome 9, 111903746: 111903748
9 FRRS1L NM_014334.3(FRRS1L): c.436dup (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh38 Chromosome 9, 109149676: 109149676
10 FRRS1L NM_014334.3(FRRS1L): c.436dup (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh37 Chromosome 9, 111911956: 111911956
11 GPR88 NM_022049.3(GPR88): c.873C> A (p.Cys291Ter) single nucleotide variant Pathogenic rs875989788 GRCh37 Chromosome 1, 101005395: 101005395
12 GPR88 NM_022049.3(GPR88): c.873C> A (p.Cys291Ter) single nucleotide variant Pathogenic rs875989788 GRCh38 Chromosome 1, 100539839: 100539839
13 DNMT1 NM_001130823.2(DNMT1): c.2718C> G (p.Phe906Leu) single nucleotide variant Uncertain significance rs1057518774 GRCh38 Chromosome 19, 10148886: 10148886
14 DNMT1 NM_001130823.2(DNMT1): c.2718C> G (p.Phe906Leu) single nucleotide variant Uncertain significance rs1057518774 GRCh37 Chromosome 19, 10259562: 10259562
15 CACNA1A NM_001127221.1(CACNA1A): c.2396A> T (p.Asp799Val) single nucleotide variant Uncertain significance rs1060499675 GRCh37 Chromosome 19, 13410054: 13410054
16 CACNA1A NM_001127221.1(CACNA1A): c.2396A> T (p.Asp799Val) single nucleotide variant Uncertain significance rs1060499675 GRCh38 Chromosome 19, 13299240: 13299240
17 CASR NM_001178065.1(CASR): c.1612C> T (p.Leu538Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 122000933: 122000933
18 CASR NM_001178065.1(CASR): c.1612C> T (p.Leu538Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 122282086: 122282086
19 TRH NM_007117.5(TRH): c.25G> A (p.Ala9Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 129694684: 129694684
20 TRH NM_007117.5(TRH): c.25G> A (p.Ala9Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 129975841: 129975841
21 DNMT1 NM_001130823.3(DNMT1): c.3362G> T (p.Ser1121Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 10251813: 10251813
22 DNMT1 NM_001130823.3(DNMT1): c.3362G> T (p.Ser1121Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 10141137: 10141137
23 SLC9A6 NM_001042537.1(SLC9A6): c.1728-19_1728-3delTCTTCCTTAACCACCGC deletion Likely pathogenic GRCh38 Chromosome X, 136040057: 136040073
24 SLC9A6 NM_001042537.1(SLC9A6): c.1728-19_1728-3delTCTTCCTTAACCACCGC deletion Likely pathogenic GRCh37 Chromosome X, 135122216: 135122232

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 FRRS1L GPR88

Sources for Chorea, Childhood-Onset, with Psychomotor Retardation

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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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