Aliases & Classifications for Paroxysmal Choreoathetosis

MalaCards integrated aliases for Paroxysmal Choreoathetosis:

Name: Paroxysmal Choreoathetosis 54 29 6
Paroxysmal Nonkinesigenic Dyskinesia 73

External Ids:

UMLS 73 C1869117

Summaries for Paroxysmal Choreoathetosis

NINDS : 54 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 familial paroxysmal nonkinesigenic dyskinesia and dystonia, and has symptoms including torticollis, dystonia, paroxysmal and myokymia. An important gene associated with Paroxysmal Choreoathetosis is PNKD (Paroxysmal Nonkinesigenic Dyskinesia). Affiliated tissues include 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, dystonia, paroxysmal, myokymia

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

Genetic tests related to Paroxysmal Choreoathetosis:

# Genetic test Affiliating Genes
1 Paroxysmal Choreoathetosis 29 PNKD

Anatomical Context for Paroxysmal Choreoathetosis

MalaCards organs/tissues related to Paroxysmal Choreoathetosis:

41
Parietal Lobe

Publications for Paroxysmal Choreoathetosis

Articles related to Paroxysmal Choreoathetosis:

(show all 40)
# Title Authors Year
1
[Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis]. ( 25449067 )
2014
2
Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation. ( 24074546 )
2014
3
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. ( 24370076 )
2013
4
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. ( 21832227 )
2011
5
Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. ( 20716510 )
2010
6
Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family. ( 15165638 )
2004
7
Co-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: clinical, EEG, and SPECT characterization of episodic events. ( 11835445 )
2002
8
Paroxysmal choreoathetosis in a patient with idiopathic basal ganglia calcification, chorea, and dystonia. ( 9087991 )
1997
9
Paroxysmal choreoathetosis--a disorder related to Huntington's disease? ( 9249629 )
1997
10
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. ( 9382100 )
1997
11
Gene locus FPD1 of the dystonic Mount-Reback type of autosomal-dominant paroxysmal choreoathetosis. ( 9371903 )
1997
12
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
13
Paroxysmal choreoathetosis. ( 8615227 )
1996
14
Paroxysmal choreoathetosis. ( 8791017 )
1996
15
Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder? ( 8537215 )
1995
16
Paroxysmal choreoathetosis precipitated by movement, sound and photic stimulation in a case of arterio-venous malformation in the parietal lobe. ( 1660380 )
1991
17
Typical and atypical forms of paroxysmal choreoathetosis. ( 2806747 )
1989
18
Flunarizine in paroxysmal choreoathetosis. ( 2739874 )
1989
19
[Carbamazepine in paroxysmal choreoathetosis in Sydenham's chorea]. ( 2930082 )
1989
20
Paroxysmal choreoathetosis as presenting symptom of diabetes mellitus. ( 2709027 )
1989
21
Paroxysmal choreoathetosis after head injury. ( 3746316 )
1986
22
Therapeutic blood levels of phenytoin in treatment of paroxysmal choreoathetosis. ( 3887671 )
1985
23
Paroxysmal choreoathetosis due to hypoglycemia. ( 6696659 )
1984
24
Idiopathic paroxysmal choreoathetosis--report of 2 cases and review of literature. ( 6672565 )
1983
25
Therapeutic aspects of kinesiogenic paroxysmal choreoathetosis and familial paroxysmal choreoathetosis of the Mount and Reback type. ( 6197511 )
1983
26
Valproic acid and normal computerized tomographic scan in kinesiogenic familial paroxysmal choreoathetosis. ( 6770800 )
1980
27
Paroxysmal choreoathetosis: report of five cases and review of the literature. ( 7355039 )
1980
28
Paroxysmal choreoathetosis associated with thyrotosicosis. ( 518039 )
1979
29
Ten year follow-up of paroxysmal choreoathetosis: a sporadic case becomes familial. ( 639769 )
1978
30
Paroxysmal choreoathetosis as a presenting symptom in idiopathic hypoparathyroidism. ( 915513 )
1977
31
Paroxysmal choreoathetosis following head injury. ( 617585 )
1977
32
Paroxysmal choreoathetosis. Report of Chinese cases. ( 4268204 )
1973
33
Paroxysmal choreoathetosis. ( 5358018 )
1969
34
Chorea as a manifestation of familial paroxysmal choreoathetosis. ( 5689676 )
1968
35
Paroxysmal choreoathetosis and seizures induced by movement (reflex epilepsy). ( 5238718 )
1967
36
Paroxysmal kinesigenic choreoathetosis. An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied. ( 6067487 )
1967
37
Paroxysmal choreoathetosis. ( 4228695 )
1967
38
An uncommon seizure disorder: familial paroxysmal choreoathetosis. ( 5939038 )
1966
39
PAROXYSMAL CHOREOATHETOSIS. ASSOCIATED WITH PERINATAL HYPOXIC ENCEPHALOPATHY. ( 14196731 )
1964
40
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
(show top 50) (show all 182)
# Gene Variation Type Significance SNP ID Assembly Location
1 PNKD NM_015488.4(PNKD): c.26C> T (p.Ala9Val) single nucleotide variant Pathogenic rs121434511 GRCh37 Chromosome 2, 219135284: 219135284
2 PNKD NM_015488.4(PNKD): c.26C> T (p.Ala9Val) single nucleotide variant Pathogenic rs121434511 GRCh38 Chromosome 2, 218270561: 218270561
3 PNKD NM_015488.4(PNKD): c.20C> T (p.Ala7Val) single nucleotide variant Pathogenic rs121434512 GRCh37 Chromosome 2, 219135278: 219135278
4 PNKD NM_015488.4(PNKD): c.20C> T (p.Ala7Val) single nucleotide variant Pathogenic rs121434512 GRCh38 Chromosome 2, 218270555: 218270555
5 PNKD NM_015488.4(PNKD): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance rs878855015 GRCh37 Chromosome 2, 219135323: 219135323
6 PNKD NM_015488.4(PNKD): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance rs878855015 GRCh38 Chromosome 2, 218270600: 218270600
7 PNKD NM_015488.4(PNKD): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs149750691 GRCh37 Chromosome 2, 219209282: 219209282
8 PNKD NM_015488.4(PNKD): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs149750691 GRCh38 Chromosome 2, 218344559: 218344559
9 PNKD NM_015488.4(PNKD): c.486G> A (p.Gly162=) single nucleotide variant Benign rs34014804 GRCh37 Chromosome 2, 219205471: 219205471
10 PNKD NM_015488.4(PNKD): c.486G> A (p.Gly162=) single nucleotide variant Benign rs34014804 GRCh38 Chromosome 2, 218340748: 218340748
11 PNKD NM_015488.4(PNKD): c.781+12C> T single nucleotide variant Likely benign rs370963150 GRCh37 Chromosome 2, 219206879: 219206879
12 PNKD NM_015488.4(PNKD): c.781+12C> T single nucleotide variant Likely benign rs370963150 GRCh38 Chromosome 2, 218342156: 218342156
13 PNKD NM_015488.4(PNKD): c.-105A> T single nucleotide variant Likely benign rs183319984 GRCh38 Chromosome 2, 218270431: 218270431
14 PNKD NM_015488.4(PNKD): c.-105A> T single nucleotide variant Likely benign rs183319984 GRCh37 Chromosome 2, 219135154: 219135154
15 PNKD NM_015488.4(PNKD): c.254G> A (p.Arg85His) single nucleotide variant Likely benign rs150402000 GRCh37 Chromosome 2, 219204523: 219204523
16 PNKD NM_015488.4(PNKD): c.254G> A (p.Arg85His) single nucleotide variant Likely benign rs150402000 GRCh38 Chromosome 2, 218339800: 218339800
17 PNKD NM_015488.4(PNKD): c.265G> A (p.Gly89Arg) single nucleotide variant Likely benign rs147259983 GRCh37 Chromosome 2, 219204534: 219204534
18 PNKD NM_015488.4(PNKD): c.265G> A (p.Gly89Arg) single nucleotide variant Likely benign rs147259983 GRCh38 Chromosome 2, 218339811: 218339811
19 PNKD NM_015488.4(PNKD): c.299C> T (p.Ala100Val) single nucleotide variant Uncertain significance rs374645683 GRCh37 Chromosome 2, 219204568: 219204568
20 PNKD NM_015488.4(PNKD): c.299C> T (p.Ala100Val) single nucleotide variant Uncertain significance rs374645683 GRCh38 Chromosome 2, 218339845: 218339845
21 PNKD NM_015488.4(PNKD): c.302G> A (p.Arg101Gln) single nucleotide variant Uncertain significance rs368934552 GRCh37 Chromosome 2, 219204571: 219204571
22 PNKD NM_015488.4(PNKD): c.302G> A (p.Arg101Gln) single nucleotide variant Uncertain significance rs368934552 GRCh38 Chromosome 2, 218339848: 218339848
23 PNKD NM_015488.4(PNKD): c.524+13C> T single nucleotide variant Likely benign rs150529046 GRCh37 Chromosome 2, 219205522: 219205522
24 PNKD NM_015488.4(PNKD): c.524+13C> T single nucleotide variant Likely benign rs150529046 GRCh38 Chromosome 2, 218340799: 218340799
25 PNKD NM_015488.4(PNKD): c.1140_1145delTATGCA (p.Met381_His382del) deletion Likely benign rs886055621 GRCh38 Chromosome 2, 218344963: 218344968
26 PNKD NM_015488.4(PNKD): c.1140_1145delTATGCA (p.Met381_His382del) deletion Likely benign rs886055621 GRCh37 Chromosome 2, 219209686: 219209691
27 PNKD NM_015488.4(PNKD): c.*92C> A single nucleotide variant Benign rs921970 GRCh38 Chromosome 2, 218345073: 218345073
28 PNKD NM_015488.4(PNKD): c.*92C> A single nucleotide variant Benign rs921970 GRCh37 Chromosome 2, 219209796: 219209796
29 PNKD NM_015488.4(PNKD): c.*181G> C single nucleotide variant Benign rs73088173 GRCh38 Chromosome 2, 218345162: 218345162
30 PNKD NM_015488.4(PNKD): c.*181G> C single nucleotide variant Benign rs73088173 GRCh37 Chromosome 2, 219209885: 219209885
31 PNKD NM_015488.4(PNKD): c.*206C> T single nucleotide variant Uncertain significance rs886055622 GRCh37 Chromosome 2, 219209910: 219209910
32 PNKD NM_015488.4(PNKD): c.*206C> T single nucleotide variant Uncertain significance rs886055622 GRCh38 Chromosome 2, 218345187: 218345187
33 PNKD NM_015488.4(PNKD): c.*451A> G single nucleotide variant Benign rs148230498 GRCh38 Chromosome 2, 218345432: 218345432
34 PNKD NM_015488.4(PNKD): c.*451A> G single nucleotide variant Benign rs148230498 GRCh37 Chromosome 2, 219210155: 219210155
35 PNKD NM_015488.4(PNKD): c.*607T> C single nucleotide variant Likely benign rs141201996 GRCh38 Chromosome 2, 218345588: 218345588
36 PNKD NM_015488.4(PNKD): c.*607T> C single nucleotide variant Likely benign rs141201996 GRCh37 Chromosome 2, 219210311: 219210311
37 PNKD NM_015488.4(PNKD): c.*826G> T single nucleotide variant Uncertain significance rs772338538 GRCh38 Chromosome 2, 218345807: 218345807
38 PNKD NM_015488.4(PNKD): c.*826G> T single nucleotide variant Uncertain significance rs772338538 GRCh37 Chromosome 2, 219210530: 219210530
39 PNKD NM_015488.4(PNKD): c.*1139C> G single nucleotide variant Likely benign rs547847157 GRCh38 Chromosome 2, 218346120: 218346120
40 PNKD NM_015488.4(PNKD): c.*1139C> G single nucleotide variant Likely benign rs547847157 GRCh37 Chromosome 2, 219210843: 219210843
41 PNKD NM_015488.4(PNKD): c.331A> G (p.Thr111Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs202190131 GRCh37 Chromosome 2, 219204600: 219204600
42 PNKD NM_015488.4(PNKD): c.331A> G (p.Thr111Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs202190131 GRCh38 Chromosome 2, 218339877: 218339877
43 PNKD NM_015488.4(PNKD): c.455G> A (p.Arg152Gln) single nucleotide variant Benign rs73990423 GRCh37 Chromosome 2, 219204854: 219204854
44 PNKD NM_015488.4(PNKD): c.455G> A (p.Arg152Gln) single nucleotide variant Benign rs73990423 GRCh38 Chromosome 2, 218340131: 218340131
45 PNKD NM_015488.4(PNKD): c.560G> A (p.Arg187Gln) single nucleotide variant Benign/Likely benign rs141506076 GRCh37 Chromosome 2, 219206292: 219206292
46 PNKD NM_015488.4(PNKD): c.560G> A (p.Arg187Gln) single nucleotide variant Benign/Likely benign rs141506076 GRCh38 Chromosome 2, 218341569: 218341569
47 PNKD NM_015488.4(PNKD): c.597C> T (p.Asp199=) single nucleotide variant Likely benign rs139122042 GRCh37 Chromosome 2, 219206329: 219206329
48 PNKD NM_015488.4(PNKD): c.597C> T (p.Asp199=) single nucleotide variant Likely benign rs139122042 GRCh38 Chromosome 2, 218341606: 218341606
49 PNKD NM_015488.4(PNKD): c.785G> A (p.Arg262Gln) single nucleotide variant Uncertain significance rs759669801 GRCh38 Chromosome 2, 218343503: 218343503
50 PNKD NM_015488.4(PNKD): c.785G> A (p.Arg262Gln) single nucleotide variant Uncertain significance rs759669801 GRCh37 Chromosome 2, 219208226: 219208226

Expression for Paroxysmal Choreoathetosis

Search GEO for disease gene expression data for Paroxysmal Choreoathetosis.

Pathways for Paroxysmal Choreoathetosis

GO Terms for Paroxysmal Choreoathetosis

Cellular components related to Paroxysmal Choreoathetosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 8.62 PRRT2 SLC2A1

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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44 MeSH
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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