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 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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 616939

MeSH ⁴⁵ D002819 D008607

MedGen ⁴³ C4310787 CN236418

SNOMED-CT via HPO ⁷⁰ 224958001 228156007 247578003 more

UMLS ⁷⁴ C0008489

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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, thyroid and lung, 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

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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 285)

#	Related Disease	Score
1	chorea, benign hereditary	12.8
2	sydenham chorea	12.8
3	chorea gravidarum	12.5
4	choreatic disease	12.5
5	choreoacanthocytosis	12.3
6	chorea, remitting, with nystagmus and cataract	12.3
7	huntington disease	12.2
8	morvan's fibrillary chorea	12.2
9	chorea, benign familial	12.1
10	pontocerebellar hypoplasia, type 2e	11.8
11	striatal degeneration, autosomal dominant 2	11.8
12	3-methylglutaconic aciduria, type iii	11.6
13	choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction	11.6
14	dentatorubral-pallidoluysian atrophy	11.5
15	spinocerebellar ataxia 17	11.4
16	rheumatic fever	11.3
17	antiphospholipid syndrome	11.3
18	tardive dyskinesia	11.3
19	aceruloplasminemia	11.3
20	huntington disease-like 2	11.3
21	ataxia-telangiectasia	11.2
22	optic atrophy 3, autosomal dominant	11.2
23	pontocerebellar hypoplasia, type 2a	11.2
24	episodic kinesigenic dyskinesia 1	11.1
25	neurodegeneration with brain iron accumulation 3	11.1
26	pontocerebellar hypoplasia, type 2b	11.1
27	pontocerebellar hypoplasia, type 2c	11.1
28	muscular dystrophy, limb-girdle, autosomal recessive 18	11.1
29	myopathy with extrapyramidal signs	11.1
30	rheumatic encephalitis	11.1
31	neuropathy, hereditary sensory and autonomic, type iia	11.0
32	sneddon syndrome	10.9
33	spinocerebellar ataxia 2	10.9
34	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	10.9
35	gordon holmes syndrome	10.9
36	basal ganglia calcification, idiopathic, 1	10.9
37	hyperphenylalaninemia, bh4-deficient, a	10.9
38	striatonigral degeneration, infantile	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	neurodevelopmental disorder with impaired speech and hyperkinetic movements	10.9
48	primary familial brain calcification	10.9
49	gnao1 encephalopathy	10.9
50	paroxysomal nonkinesigenic dyskinesia	10.9

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

Human phenotypes related to Chorea, Childhood-Onset, with Psychomotor Retardation:

³³

#	Description	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)

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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

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

⁴²

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

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Publications for Chorea, Childhood-Onset, with Psychomotor Retardation

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

#	Title	Authors	Year
1	Deleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilities. ( 27123486 )	Alkufri F...Elpeleg O	2016

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Genes for Chorea, Childhood-Onset, with Psychomotor Retardation

Genes related to Chorea, Childhood-Onset, with Psychomotor Retardation (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GPR88	G Protein-Coupled Receptor 88	Protein Coding	977.69	Molecular basis known ⁵⁸ Pathogenic ⁶ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	27123486
2	FRRS1L	Ferric Chelate Reductase 1 Like	Protein Coding	400	Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶

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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_014334.2(FRRS1L): c.737_739delGAG (p.Gly246del)	deletion	Pathogenic/Likely pathogenic	rs878853282	GRCh38	Chromosome 9, 109141466: 109141468
8	FRRS1L	NM_014334.2(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		GRCh37	Chromosome X, 135122216: 135122232
24	SLC9A6	NM_001042537.1(SLC9A6): c.1728-19_1728-3delTCTTCCTTAACCACCGC	deletion	Likely pathogenic		GRCh38	Chromosome X, 136040057: 136040073

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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

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

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

Aliases & Classifications for Chorea, Childhood-Onset, with Psychomotor Retardation

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Chorea, Childhood-Onset, with Psychomotor Retardation

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics 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:

Publications for Chorea, Childhood-Onset, with Psychomotor Retardation

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

Genes for Chorea, Childhood-Onset, with Psychomotor Retardation

Genes related to Chorea, Childhood-Onset, with Psychomotor Retardation (2 elite genes):

Variations for Chorea, Childhood-Onset, with Psychomotor Retardation

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

Expression 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:

Sources for Chorea, Childhood-Onset, with Psychomotor Retardation