COCPMR
MCID: CHR607
MIFTS: 28

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 75 6
Cocpmr 57 75
Chorea 44 73

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:



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 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, lung and kidney, and related phenotypes are intellectual disability and chorea

UniProtKB/Swiss-Prot : 75 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 246)
# Related Disease Score Top Affiliating Genes
1 chorea, benign hereditary 12.7
2 sydenham chorea 12.7
3 chorea gravidarum 12.5
4 choreatic disease 12.3
5 choreoacanthocytosis 12.2
6 chorea, remitting, with nystagmus and cataract 12.2
7 chorea minor 12.2
8 huntington disease 12.2
9 morvan's fibrillary chorea 12.1
10 chorea, benign familial 12.0
11 pontocerebellar hypoplasia, type 2e 11.7
12 3-methylglutaconic aciduria, type iii 11.6
13 striatal degeneration, autosomal dominant 2 11.5
14 dentatorubral-pallidoluysian atrophy 11.5
15 rheumatic fever 11.3
16 antiphospholipid syndrome 11.3
17 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.3
18 aceruloplasminemia 11.2
19 tardive dyskinesia 11.2
20 optic atrophy 3, autosomal dominant 11.1
21 episodic kinesigenic dyskinesia 1 11.0
22 pontocerebellar hypoplasia, type 2a 11.0
23 neurodegeneration with brain iron accumulation 3 11.0
24 pontocerebellar hypoplasia, type 2b 11.0
25 pontocerebellar hypoplasia, type 2c 11.0
26 muscular dystrophy, limb-girdle, autosomal recessive 18 11.0
27 myopathy with extrapyramidal signs 11.0
28 rheumatic encephalitis 11.0
29 neuropathy, hereditary sensory and autonomic, type iia 11.0
30 sneddon syndrome 10.9
31 ataxia-telangiectasia 10.9
32 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.9
33 gordon holmes syndrome 10.9
34 basal ganglia calcification, idiopathic, 1 10.9
35 hyperphenylalaninemia, bh4-deficient, a 10.9
36 striatonigral degeneration, infantile 10.9
37 huntington disease-like 2 10.9
38 spinocerebellar ataxia 17 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 microphthalmia, syndromic 12 10.9
43 basal ganglia calcification, idiopathic, 6 10.9
44 lopes-maciel-rodan syndrome 10.9
45 neurodevelopmental disorder with involuntary movements 10.9
46 gnao1 encephalopathy 10.9
47 paroxysomal nonkinesigenic dyskinesia 10.9
48 x-linked dystonia-parkinsonism/lubag 10.9
49 huntington disease-like syndrome 10.9
50 familial idiopathic basal ganglia calcification 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

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

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

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:

41
Brain, Lung, Kidney, Heart, Breast, Thyroid, Temporal Lobe

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 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 GRCh37 Chromosome 9, 111899809: 111899809
2 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 GRCh38 Chromosome 9, 109137529: 109137529
3 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh38 Chromosome 9, 109141360: 109141360
4 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh37 Chromosome 9, 111903640: 111903640
5 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Pathogenic/Likely pathogenic rs878853282 GRCh38 Chromosome 9, 109141466: 109141468
6 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Pathogenic/Likely pathogenic rs878853282 GRCh37 Chromosome 9, 111903746: 111903748
7 FRRS1L NM_014334.3(FRRS1L): c.436dupA (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh38 Chromosome 9, 109149676: 109149676
8 FRRS1L NM_014334.3(FRRS1L): c.436dupA (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh37 Chromosome 9, 111911956: 111911956
9 GPR88 NM_022049.2(GPR88): c.873C> A (p.Cys291Ter) single nucleotide variant Pathogenic rs875989788 GRCh37 Chromosome 1, 101005395: 101005395
10 GPR88 NM_022049.2(GPR88): c.873C> A (p.Cys291Ter) single nucleotide variant Pathogenic rs875989788 GRCh38 Chromosome 1, 100539839: 100539839
11 DNMT1 NM_001130823.2(DNMT1): c.2718C> G (p.Phe906Leu) single nucleotide variant Uncertain significance rs1057518774 GRCh38 Chromosome 19, 10148886: 10148886
12 DNMT1 NM_001130823.2(DNMT1): c.2718C> G (p.Phe906Leu) single nucleotide variant Uncertain significance rs1057518774 GRCh37 Chromosome 19, 10259562: 10259562
13 CACNA1A NM_001127221.1(CACNA1A): c.2396A> T (p.Asp799Val) single nucleotide variant Uncertain significance rs1060499675 GRCh37 Chromosome 19, 13410054: 13410054
14 CACNA1A NM_001127221.1(CACNA1A): c.2396A> T (p.Asp799Val) single nucleotide variant Uncertain significance rs1060499675 GRCh38 Chromosome 19, 13299240: 13299240

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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