Aliases & Classifications for Paroxysmal Choreoathetosis

MalaCards integrated aliases for Paroxysmal Choreoathetosis:

Name: Paroxysmal Choreoathetosis 55 6
Paroxysmal Nonkinesigenic Dyskinesia 74

External Ids:

UMLS 74 C1869117

Summaries for Paroxysmal Choreoathetosis

NINDS : 55 Paroxysmal choreoathetosis is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family, or in only a single family member. Prior to an attack some individuals experience tightening of muscles or other physical symptoms. Involuntary movements precipitate some attacks, and other attacks occur when the individual has consumed alcohol or caffeine, or is tired or stressed. Attacks can last from 10 seconds to over an hour. Some individuals have lingering muscle tightness after an attack. Paroxysmal choreoathetosis frequently begins in early adolescence. A gene associated with the disorder has been discovered. The same gene is also associated with epilepsy.  

MalaCards based summary : Paroxysmal Choreoathetosis, also known as paroxysmal nonkinesigenic dyskinesia, is related to episodic kinesigenic dyskinesia 1 and familial paroxysmal nonkinesigenic dyskinesia, and has symptoms including torticollis, myokymia and dystonia, paroxysmal. An important gene associated with Paroxysmal Choreoathetosis is PRRT2 (Proline Rich Transmembrane Protein 2). Affiliated tissues include brain and parietal lobe.

Related Diseases for Paroxysmal Choreoathetosis

Graphical network of the top 20 diseases related to Paroxysmal Choreoathetosis:



Diseases related to Paroxysmal Choreoathetosis

Symptoms & Phenotypes for Paroxysmal Choreoathetosis

UMLS symptoms related to Paroxysmal Choreoathetosis:


torticollis, myokymia, dystonia, paroxysmal

Drugs & Therapeutics for Paroxysmal Choreoathetosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Transcranial Magnetic Stimulation (TMS) Studies of Dystonia Completed NCT00017875
2 Dystonia Genotype-Phenotype Correlation Recruiting NCT03428009

Search NIH Clinical Center for Paroxysmal Choreoathetosis

Genetic Tests for Paroxysmal Choreoathetosis

Anatomical Context for Paroxysmal Choreoathetosis

MalaCards organs/tissues related to Paroxysmal Choreoathetosis:

42
Brain, Parietal Lobe

Publications for Paroxysmal Choreoathetosis

Articles related to Paroxysmal Choreoathetosis:

(show all 41)
# Title Authors Year
1
A PDGFB mutation causes paroxysmal nonkinesigenic dyskinesia with brain calcification. ( 28556368 )
2017
2
[Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis]. ( 25449067 )
2014
3
Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation. ( 24074546 )
2014
4
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. ( 24370076 )
2013
5
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. ( 21832227 )
2011
6
Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. ( 20716510 )
2010
7
Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family. ( 15165638 )
2004
8
Co-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: clinical, EEG, and SPECT characterization of episodic events. ( 11835445 )
2002
9
Paroxysmal choreoathetosis in a patient with idiopathic basal ganglia calcification, chorea, and dystonia. ( 9087991 )
1997
10
Paroxysmal choreoathetosis--a disorder related to Huntington's disease? ( 9249629 )
1997
11
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. ( 9382100 )
1997
12
Gene locus FPD1 of the dystonic Mount-Reback type of autosomal-dominant paroxysmal choreoathetosis. ( 9371903 )
1997
13
A 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 )
1996
14
Paroxysmal choreoathetosis. ( 8615227 )
1996
15
Paroxysmal choreoathetosis. ( 8791017 )
1996
16
Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder? ( 8537215 )
1995
17
Paroxysmal choreoathetosis precipitated by movement, sound and photic stimulation in a case of arterio-venous malformation in the parietal lobe. ( 1660380 )
1991
18
Typical and atypical forms of paroxysmal choreoathetosis. ( 2806747 )
1989
19
Flunarizine in paroxysmal choreoathetosis. ( 2739874 )
1989
20
[Carbamazepine in paroxysmal choreoathetosis in Sydenham's chorea]. ( 2930082 )
1989
21
Paroxysmal choreoathetosis as presenting symptom of diabetes mellitus. ( 2709027 )
1989
22
Paroxysmal choreoathetosis after head injury. ( 3746316 )
1986
23
Therapeutic blood levels of phenytoin in treatment of paroxysmal choreoathetosis. ( 3887671 )
1985
24
Paroxysmal choreoathetosis due to hypoglycemia. ( 6696659 )
1984
25
Idiopathic paroxysmal choreoathetosis--report of 2 cases and review of literature. ( 6672565 )
1983
26
Therapeutic aspects of kinesiogenic paroxysmal choreoathetosis and familial paroxysmal choreoathetosis of the Mount and Reback type. ( 6197511 )
1983
27
Valproic acid and normal computerized tomographic scan in kinesiogenic familial paroxysmal choreoathetosis. ( 6770800 )
1980
28
Paroxysmal choreoathetosis: report of five cases and review of the literature. ( 7355039 )
1980
29
Paroxysmal choreoathetosis associated with thyrotosicosis. ( 518039 )
1979
30
Ten year follow-up of paroxysmal choreoathetosis: a sporadic case becomes familial. ( 639769 )
1978
31
Paroxysmal choreoathetosis as a presenting symptom in idiopathic hypoparathyroidism. ( 915513 )
1977
32
Paroxysmal choreoathetosis following head injury. ( 617585 )
1977
33
Paroxysmal choreoathetosis. Report of Chinese cases. ( 4268204 )
1973
34
Paroxysmal choreoathetosis. ( 5358018 )
1969
35
Chorea as a manifestation of familial paroxysmal choreoathetosis. ( 5689676 )
1968
36
Paroxysmal choreoathetosis and seizures induced by movement (reflex epilepsy). ( 5238718 )
1967
37
Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. ( 6067487 )
1967
38
Paroxysmal choreoathetosis. ( 4228695 )
1967
39
An uncommon seizure disorder: familial paroxysmal choreoathetosis. ( 5939038 )
1966
40
PAROXYSMAL CHOREOATHETOSIS. ASSOCIATED WITH PERINATAL HYPOXIC ENCEPHALOPATHY. ( 14196731 )
1964
41
Familial paroxysmal choreoathetosis of Mount and Reback; study of a second family in which this condition is found in association with epilepsy. ( 14911265 )
1952

Variations for Paroxysmal Choreoathetosis

ClinVar genetic disease variations for Paroxysmal Choreoathetosis:

6
# 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 DNMT1 NM_001130823.3(DNMT1): c.3362G> T (p.Ser1121Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 10251813: 10251813
4 DNMT1 NM_001130823.3(DNMT1): c.3362G> T (p.Ser1121Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 10141137: 10141137

Expression for Paroxysmal Choreoathetosis

Search GEO for disease gene expression data for Paroxysmal Choreoathetosis.

Pathways for Paroxysmal Choreoathetosis

GO Terms for Paroxysmal Choreoathetosis

Biological processes related to Paroxysmal Choreoathetosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling posture GO:0050884 8.62 PNKD PRRT2

Sources for Paroxysmal Choreoathetosis

3 CDC
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10 dbSNP
11 DGIdb
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20 FMA
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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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