Summaries for Choreoathetosis

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44Wikipedia, 22MalaCards
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Wikipedia: Choreoathetosis is the occurrence of involuntary movements in a combination of chorea (irregular...44 more...

MalaCards: Choreoathetosis is related to paroxysmal choreoathetosis and choreoathetosis/spasticity. An important gene associated with Choreoathetosis is CSE (choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)). The compounds 2,4-dinitrophenol and verapamil have been mentioned in the context of this disorder. Affiliated tissues include caudate nucleus, and related mouse phenotype no phenotypic analysis.

Aliases & Descriptions for Choreoathetosis

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7diseasecard, 32Novoseek , 43UMLS
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choreoathetosis 7 32 43

Related Diseases for Choreoathetosis

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13GeneCards, 14GeneDecks
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Diseases related to choreoathetosis by text searches and GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1paroxysmal choreoathetosis31.0DYT10, CSE, SLC2A1, ICCA
2choreoathetosis/spasticity30.8SLC2A1, CSE
3convulsions28.8BFIC2, SLC5A11, ICCA, CACNA1A, DYT10
4dentatorubral-pallidoluysian atrophy28.6CACNA1A, ATN1
5alternating hemiplegia of childhood27.4CACNA1A, SLC2A1
6spasticity26.8HPRT1, SLC2A1, CSE, HSD17B10, NUP62
7papillary adenocarcinoma13.2SLC2A1, NKX2-1
8hereditary ataxia13.1CACNA1A, ATN1
9spinocerebellar ataxia type 1213.1ATN1, CACNA1A
10spinocerebellar ataxia type 713.1CACNA1A, ATN1
11spinocerebellar ataxia type 1713.1ATN1, CACNA1A
12thyroid cancer13.0DYT10, NKX2-1
13movement disease13.0NKX2-1, SLC2A1, HPRT1
14papillary thyroid carcinoma13.0DYT10, SLC2A1, NKX2-1
15hemiplegia12.9SLC2A1, CACNA1A
16anaplastic carcinoma12.9SLC2A1, NKX2-1
17chorea12.8NKX2-1, PRRT2, ATN1
18episodic ataxia12.7PNKD, CACNA1A
19bladder carcinoma12.6SLC2A1, NKX2-1, HPRT1, DYT10
20olivopontocerebellar atrophy12.6ATN1, CACNA1A
21thymoma12.6SLC2A1, NKX2-1, DYT10
22dyskinesia of esophagus12.5CACNA1A, PNKD, PRRT2
23cerebritis11.5ATN1, HSD17B10, CACNA1A, HPRT1, DYT10, SLC2A1
24ataxia11.3CACNA1A, HPRT1, NKX2-1, PNKD, NUP62, SLC2A1
25paroxysmal kinesigenic choreoathetosis9.8
26paroxysmal nonkinesigenic dyskinesia7.2
27infantile convulsions and paroxysmal choreoathetosis, familial7.0
28lesch-nyhan syndrome7.0
29choreoathetosis, hypothyroidism, and neonatal respiratory distress7.0
30dystonia 87.0
31choreoathetosis/spasticity, episodic6.6
32convulsions, infantile and paroxysmal choreoathetosis6.1
33dystonia 106.1
34schimke x-linked mental retardation syndrome6.1
35hypothyroidism5.1
36muscular dystrophy5.1
37polycystic kidney disease5.1
38polycystic kidney disease, autosomal recessive5.1
39polycystic kidney disease 1, autosomal dominant5.1
40polycystic kidney disease 2, autosomal dominant5.1
41pyruvate kinase deficiency5.1
42reflex epilepsy5.1
43succinic semialdehyde dehydrogenase deficiency5.1
44arachnoiditis5.1
45arachnoid cysts5.1
46becker muscular dystrophy5.1
47benign familial infantile epilepsy5.1
48dextrocardia with unusual facies and microphthalmia5.1
49dystonia 95.1
50hypoparathyroidism5.1

Graphical network of the top 20 diseases related to choreoathetosis:



Graphical network of diseases related to choreoathetosis

Clinical Features for Choreoathetosis

Drugs & Therapeutics for Choreoathetosis

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4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Genetic Tests for Choreoathetosis

Anatomical Context for Choreoathetosis

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22MalaCards
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MalaCards organs/tissues related to choreoathetosis:

22
Caudate nucleus

Phenotypes for genes affiliated with Choreoathetosis

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25MGI
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MGI Mouse Phenotypes related to choreoathetosis:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1no phenotypic analysisMP:00030128.5ATN1, CACNA1A, HPRT1, PNKD, SLC2A1, NKX2-1

Publications for genes affiliated with Choreoathetosis

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35PubMed
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Articles related to choreoathetosis:

(show all 40)
idTitleAuthorsYearAffiliating Genes
1Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. (22131361)Li J.... Liu Y.2012PRRT2
2PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. (22243967)Heron S.E.... Dibbens L.M.2012PRRT2
3Paroxysmal choreoathetosis/spasticity (DYT9) is cause d by a GLUT1 defect. (21832227)Weber Y.G.... Lerche H.2011SLC2A1
4The thalamic ultrastructural abnormalities in paroxys mal kinesigenic choreoathetosis: a diffusion tensor imaging study. (20012544)Zhou B.... Zhou D.2010DYT10
5Clinical characteristics of paroxysmal kinesigenic choreoathetosis: diagnosis, treatment and prognosis. (19224177)Kang H.... Zhu S.2009DYT10
6Localization and mutation detection for paroxysmal kinesigenic choreoathetosis. (17952630)Du T.... Liu Y.2008DYT10
7The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. (17236142)Lenski C.... Ramser J.2007HSD17B10
8Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. (17387577)Kikuchi T.... Niikawa N.2007DYT10
9Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions. (16901678)Kato N.... Fukuyama Y.2006DYT10
10Perfusion abnormality of the caudate nucleus in patie nts with paroxysmal kinesigenic choreoathetosis. (15948007)Joo E.Y.... Kim B.T.2005DYT10
11Clinical manifestation and carbamazepine treatment of patients with paroxysmal kinesigenic choreoathetosis. (16231560)Tsai J.D.... Tsai C.H.2005DYT10
12Late-onset of idiopathic paroxysmal kinesigenic choreoathetosis: a case report (15293760)Iwasaki Y.... Hamada K.2004DYT10
13Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. (15262732)Rainier S.... Fink J.K.2004PNKD
14Preprogramming motor dysfunction in paroxysmal kinesigenic choreoathetosis. (12760411)Fattapposta F.... Amabile G.2003DYT10
15Ictal SPECT and paired stimulation SEP recovery curve in a patient with paroxysmal kinesigenic choreoathetosis (12440098)Yamashiro D.... Nakazawa S.2002DYT10
16New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families. (12039040)Roll P.... Szepetowski P.2002SLC5A11
17The relationship between paroxysmal kinesigenic choreoathetosis and epilepsy. (11930271)Ohmori I.... Oka E.2002DYT10
18Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency. (11854319)Krude H.... Grueters A.2002NKX2-1
19Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. (11179027)Caraballo R.... Szepetowski P.2001BFIC2
20Regression of ventral striatum hypometabolism after calcium/calcitriol therapy in paroxysmal kinesigenic choreoathetosis due to idiopathic primary hypoparathyroidism. (11606688)VolontAc M.A.... Fazio F.2001DYT10
21A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. (11004121)Valente E.M.... Davis M.B.2000DYT10
22Effectiveness of lamotrigine in children with paroxysmal kinesigenic choreoathetosis. (11085299)Uberall M.A.... Wenzel D.2000DYT10
23A patient presented with atypical paroxysmal kinesigenic choreoathetosis and Becker muscular dystrophy (10835941)Fukada K.... Yanagihara T.2000DYT10
24A family with an atonic variant of paroxysmal kinesigenic choreoathetosis and hypercalcitoninemia. (10091631)Fukuda M.... Hata A.1999DYT10
25Familial paroxysmal kinesigenic choreoathetosis: an electrophysiologic and genotypic analysis. (10403218)Sadamatsu M.... Kato N.1999DYT10
26Paroxysmal kinesigenic choreoathetosis: a report of 26 patients. (10195407)Houser M.K.... Marsden C.D.1999DYT10
27Paroxysmal kinesigenic choreoathetosis associated with frontotemporal arachnoid cyst--case report. (10193153)Urasaki E.... Yokota A.1999DYT10
28Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. (10577923)Tomita H.... Niikawa N.1999DYT10
29Eleven cases of paroxysmal kinesigenic choreoathetosis; correlation with benign infantile convulsions (9844411)Hamada Y.... Okuno T.1998DYT10
30Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy. (9822839)Tan L.C.... Tjia H.1998DYT10
31Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. (9490305)Raskind W.H.... Bird T.D.1998PNKD
32Ictal 99mTC-HMPAO-SPECT in a case of paroxysmal kine sigenic choreoathetosis (9916526)Kitagawa N.... Kimura J.1998DYT10
33Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. (9382100)Szepetowski P.... Monaco A.P.1997ICCA
34Epilepsy or paroxysmal kinesigenic choreoathetosis? (8733907)Beaumanoir A.... van Lierde A.1996DYT10
35Paroxysmal kinesigenic choreoathetosis. (8967112)Choi I.S.... Jung W.Y.1996DYT10
36A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. (8808284)Auburger G.... Voit T.1996CSE
37Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. (8659518)Fink J.K.... Leppert M.1996PNKD
38Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder? (8537215)Lombroso C.T.1995DYT10
39Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks. (1868806)Hirata K.... Otaka T.1991DYT10
40Paroxysmal kinesigenic choreoathetosis: autonomic disease or reflex epilepsy? (2309057)Cler J.M.... Vercelletto P.1990DYT10

Expression for genes affiliated with Choreoathetosis

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Choreoathetosis

Pathways for genes affiliated with Choreoathetosis

Compounds for genes affiliated with Choreoathetosis

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32Novoseek , 34PharmGKB, 9DrugBank, 18HMDB
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Compounds related to choreoathetosis according to GeneDecks:

idCompoundScoreTop Affiliating Genes
12,4-dinitrophenol32 9.8SLC2A1, NKX2-1
2verapamil32 34 9 18 9 13.5CACNA1A, DYT10, SLC2A1
3glutamine32 9.2ATN1, CACNA1A, HPRT1, SLC2A1
4glutamate32 8.3SLC2A1, DYT10, HPRT1, CACNA1A, HSD17B10

GO Terms for genes affiliated with Choreoathetosis

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12Gene Ontology
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Biological processes related to choreoathetosis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Leydig cell differentiationGO:0333279.5HSD17B10, NKX2-1
2dendrite morphogenesisGO:0488139.5CACNA1A, HPRT1
3cell agingGO:0075699.3HSD17B10, NUP62

Sources for Choreoathetosis

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS