Chorea, Childhood-Onset, with Psychomotor Retardation disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 616939

MedGen ⁴² C4310787 CN236418

MeSH ⁴⁴ D002819 D008607

SNOMED-CT via HPO ⁶⁹ 258211005 228156007 247578003 more

UMLS ⁷³ C0008489

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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

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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
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:

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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 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)

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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

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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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Publications for Chorea, Childhood-Onset, with Psychomotor Retardation

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Genes for Chorea, Childhood-Onset, with Psychomotor Retardation

Genes related to Chorea, Childhood-Onset, with Psychomotor Retardation (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GPR88	G Protein-Coupled Receptor 88	Protein Coding	977.87	Molecular basis known ⁵⁷ Pathogenic ⁶ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)	27123486

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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

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Expression for Chorea, Childhood-Onset, with Psychomotor Retardation

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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