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
Anatomical: Neuronal 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

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

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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 246)

#	Related Disease	Score
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:

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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	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)

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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:

⁴¹

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

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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 (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	977.7	Molecular basis known ⁵⁷ Pathogenic ⁶ Unconfirmed association ⁵⁷ 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 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

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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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Sources for Chorea, Childhood-Onset, with Psychomotor Retardation

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⁷¹ TGDB

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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