MCID: CHR607
MIFTS: 21

Chorea, Childhood-Onset, with Psychomotor Retardation

Categories: Genetic 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

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.

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, athetosis and clonus. An important gene associated with Chorea, Childhood-Onset, with Psychomotor Retardation is GPR88 (G Protein-Coupled Receptor 88). Related phenotypes are intellectual disability and global developmental delay

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 228)
# Related Disease Score Top Affiliating Genes
1 chorea, benign hereditary 12.6
2 sydenham chorea 12.6
3 chorea gravidarum 12.3
4 choreatic disease 12.2
5 chorea minor 12.0
6 huntington disease 12.0
7 morvan's fibrillary chorea 12.0
8 chorea, remitting, with nystagmus and cataract 11.9
9 choreoacanthocytosis 11.9
10 chorea, benign familial 11.9
11 pontocerebellar hypoplasia, type 2e 11.6
12 3-methylglutaconic aciduria, type iii 11.4
13 striatal degeneration, autosomal dominant 2 11.4
14 dentatorubral-pallidoluysian atrophy 11.3
15 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 11.1
16 antiphospholipid syndrome 11.1
17 aceruloplasminemia 11.1
18 basal ganglia calcification 11.1
19 tardive dyskinesia 11.1
20 optic atrophy 3, autosomal dominant 11.0
21 episodic kinesigenic dyskinesia 1 10.9
22 pontocerebellar hypoplasia, type 2a 10.9
23 neurodegeneration with brain iron accumulation 3 10.9
24 pontocerebellar hypoplasia, type 2b 10.9
25 pontocerebellar hypoplasia, type 2c 10.9
26 myopathy with extrapyramidal signs 10.9
27 rheumatic encephalitis 10.9
28 neuropathy, hereditary sensory and autonomic, type iia 10.8
29 sneddon syndrome 10.7
30 ataxia-telangiectasia 10.7
31 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.7
32 gordon holmes syndrome 10.7
33 muscular dystrophy, limb-girdle, type 2a 10.7
34 hyperphenylalaninemia, bh4-deficient, a 10.7
35 striatonigral degeneration, infantile 10.7
36 huntington disease-like 2 10.7
37 spinocerebellar ataxia 17 10.7
38 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.7
39 parkinsonism-dystonia, infantile 10.7
40 microphthalmia, syndromic 12 10.7
41 basal ganglia calcification, idiopathic, 6 10.7
42 lopes-maciel-rodan syndrome 10.7
43 neurodevelopmental disorder with involuntary movements 10.7
44 gnao1 encephalopathy 10.7
45 paroxysomal nonkinesigenic dyskinesia 10.7
46 x-linked dystonia-parkinsonism/lubag 10.7
47 huntington disease-like syndrome 10.7
48 familial idiopathic basal ganglia calcification 10.7
49 dystonia 10.2
50 neuronitis 10.2

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 global developmental delay 32 HP:0001263
3 chorea 32 HP:0002072
4 abnormal head movements 32 HP:0002457
5 poor speech 32 HP:0002465

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


ataxia, athetosis, clonus, dystonia, muscular fasciculation, myoclonus, spasm, tremor, other symptoms involving nervous and musculoskeletal systems, synkinesis, involuntary movements, 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

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
# Gene Variation Type Significance SNP ID Assembly Location
1 GPR88 NM_022049.2(GPR88): c.873C> A (p.Cys291Ter) single nucleotide variant Pathogenic rs875989788 GRCh37 Chromosome 1, 101005395: 101005395
2 GPR88 NM_022049.2(GPR88): c.873C> A (p.Cys291Ter) single nucleotide variant Pathogenic rs875989788 GRCh38 Chromosome 1, 100539839: 100539839

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

Sources for Chorea, Childhood-Onset, with Psychomotor Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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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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