Aliases & Classifications for Paroxysmal Choreoathetosis

MalaCards integrated aliases for Paroxysmal Choreoathetosis:

Name: Paroxysmal Choreoathetosis 53 6
Paroxysmal Nonkinesigenic Dyskinesia 70

External Ids:

UMLS 70 C1869117

Summaries for Paroxysmal Choreoathetosis

NINDS : 53 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 paroxysmal dyskinesia and choreatic disease, 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 globus pallidus and parietal lobe, and related phenotype is nervous system.

Related Diseases for Paroxysmal Choreoathetosis

Diseases related to Paroxysmal Choreoathetosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 paroxysmal dyskinesia 31.2 PRRT2 PCDH19 DNMT1
2 choreatic disease 30.2 SLC2A1 PRRT2
3 benign familial infantile epilepsy 29.8 PRRT2 PCDH19
4 glut1 deficiency syndrome 2 29.8 SLC2A1 PRRT2
5 seizure disorder 29.7 SLC2A1 PRRT2 PCDH19
6 movement disease 29.5 SLC2A1 PRRT2
7 epilepsy 29.0 SLC2A1 PRRT2 PCDH19 DNMT1
8 convulsions, familial infantile, with paroxysmal choreoathetosis 11.9
9 dystonia 9 11.6
10 paroxysmal nonkinesigenic dyskinesia 1 11.4
11 familial paroxysmal nonkinesigenic dyskinesia 11.4
12 episodic kinesigenic dyskinesia 1 11.2
13 glucose transporter type 1 deficiency syndrome 11.1
14 chorea, childhood-onset, with psychomotor retardation 10.2
15 prrt2-associated paroxysmal movement disorders 10.2
16 migraine with or without aura 1 10.1
17 reflex epilepsy 10.1
18 dystonia 10.1
19 head injury 10.1
20 spasticity 10.1
21 chromosome 16p11.2 deletion syndrome 10.0 PRRT2 PCDH19
22 infancy electroclinical syndrome 10.0 PRRT2 PCDH19
23 benign familial neonatal epilepsy 10.0 PRRT2 PCDH19
24 neonatal period electroclinical syndrome 10.0 PRRT2 PCDH19
25 seizures, benign familial neonatal, 1 9.9
26 huntington disease 9.9
27 ocular motor apraxia 9.9
28 ataxia and polyneuropathy, adult-onset 9.9
29 glut1 deficiency syndrome 1 9.9
30 sydenham chorea 9.9
31 basal ganglia calcification 9.9
32 hypoparathyroidism 9.9
33 hypoglycemic coma 9.9
34 hereditary spastic paraplegia 9.9
35 episodic ataxia 9.9
36 hypoglycemia 9.9
37 paroxysmal exertion-induced dyskinesia 9.9
38 spastic paraparesis 9.9
39 encephalopathy 9.9
40 febrile seizures 9.9
41 infantile epilepsy syndrome 9.9
42 dystonia, dopa-responsive 9.9 SLC2A1 PRRT2
43 childhood electroclinical syndrome 9.9 SLC2A1 PCDH19
44 alternating hemiplegia of childhood 9.9 SLC2A1 PRRT2
45 dystonia 12 9.9 SLC2A1 PCDH19
46 glycine encephalopathy 9.9 SLC2A1 PCDH19
47 lennox-gastaut syndrome 9.9 SLC2A1 PCDH19
48 migraine with aura 9.8 SLC2A1 PRRT2
49 generalized epilepsy with febrile seizures plus 9.8 PRRT2 PCDH19
50 early myoclonic encephalopathy 9.8 SLC2A1 PCDH19

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

MGI Mouse Phenotypes related to Paroxysmal Choreoathetosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 8.92 DNMT1 PCDH19 PRRT2 SLC2A1

Drugs & Therapeutics for Paroxysmal Choreoathetosis

Search Clinical Trials , NIH Clinical Center for Paroxysmal Choreoathetosis

Genetic Tests for Paroxysmal Choreoathetosis

Anatomical Context for Paroxysmal Choreoathetosis

MalaCards organs/tissues related to Paroxysmal Choreoathetosis:

40
Globus Pallidus, Parietal Lobe

Publications for Paroxysmal Choreoathetosis

Articles related to Paroxysmal Choreoathetosis:

(show top 50) (show all 136)
# Title Authors PMID Year
1
Hemiplegic Migraine in Glut1 Deficiency Syndrome and Paroxysmal Dyskinesia at Ketogenic Diet Induction: Case Report and Literature Review. 61
33163569 2020
2
Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy. 61
32237035 2020
3
KCNMA1-linked channelopathy. 61
31427379 2019
4
Paroxysmal Dyskinesia in Children: from Genes to the Clinic. 61
30198221 2018
5
Myofibrillogenesis regulator 1 (MR-1): a potential therapeutic target for cancer and PNKD. 61
29103325 2018
6
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy 61
29545233 2018
7
Phenotypes, genotypes, and the management of paroxysmal movement disorders. 61
29600549 2018
8
A PDGFB mutation causes paroxysmal nonkinesigenic dyskinesia with brain calcification. 61
28556368 2017
9
Classification of involuntary movements in dogs: Paroxysmal dyskinesias. 61
28190498 2017
10
Movement disorders in multiple sclerosis and their treatment. 61
27874491 2016
11
Effective Treatment of Paroxysmal Nonkinesigenic Dyskinesia With Oxcarbazepine. 61
27046658 2016
12
Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients. 61
27098784 2016
13
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 61
26677014 2016
14
Clinical Features in Border Terrier Dogs with Paroxysmal Involuntary Movements. 61
30713898 2016
15
A New Alternative Drug With Fewer Adverse Effects in the Treatment of Sydenham Chorea: Levetiracetam Efficacy in a Child. 61
26166232 2015
16
Treatment of paroxysmal dyskinesias in children. 61
25864940 2015
17
Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. 61
25730884 2015
18
Paroxysmal movement disorders. 61
25432727 2015
19
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. 61
25107857 2015
20
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction. 61
25453601 2015
21
[Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis]. 61
25449067 2014
22
A rare paroxysmal movement disorder: mixed type of paroxysmal dyskinesia. 61
25720246 2014
23
[PRRT2 gene-related paroxysmal disorders]. 61
25297589 2014
24
Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review. 61
30363920 2014
25
Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes. 61
23768507 2014
26
Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation. 61
24074546 2014
27
Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus. 61
25359315 2014
28
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. 61
24370076 2013
29
Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis. 61
23073245 2013
30
Striatal infarct with paroxysmal nonkinesigenic dyskinesia. 61
22975836 2013
31
Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. 61
23190448 2013
32
Paroxysmal nonkinesigenic dyskinesia with tremor. 61
24171125 2013
33
Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. 61
22967746 2012
34
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. 61
23077026 2012
35
Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin. 61
22464846 2012
36
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. 61
22209761 2012
37
Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. 61
22214848 2012
38
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 61
21832227 2011
39
Paroxysmal choreodystonic disorders. 61
21496595 2011
40
Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. 61
20716510 2010
41
Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families. 61
20158512 2010
42
Bilateral deep brain stimulation for treatment of medically refractory paroxysmal nonkinesigenic dyskinesia. 61
19799495 2010
43
Paroxysmal nonkinesigenic dyskinesia with depression treated by bilateral electroconvulsive therapy. 61
20686148 2010
44
A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues. 61
19589464 2009
45
Paroxysmal dyskinesias. 61
19364451 2009
46
Genetics of paroxysmal dyskinesias. 61
19348709 2009
47
[Paroxysmal dyskinesias]. 61
19222019 2009
48
Paroxysmal dyskinesia as an unusual and only presentation of subcortical white matter ischaemia: a report of two cases. 61
19803303 2008
49
Paroxysmal dyskinesias. 61
18025931 2007
50
Levetiracetam-responding paroxysmal nonkinesigenic dyskinesia. 61
17762321 2007

Variations for Paroxysmal Choreoathetosis

ClinVar genetic disease variations for Paroxysmal Choreoathetosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNMT1 NM_001130823.3(DNMT1):c.3362G>T (p.Ser1121Ile) SNV Uncertain significance 599001 rs1202584286 GRCh37: 19:10251813-10251813
GRCh38: 19:10141137-10141137
2 PCDH19 NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys) SNV Uncertain significance 159556 rs376390125 GRCh37: X:99657779-99657779
GRCh38: X:100402781-100402781

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 8.96 SLC2A1 PRRT2
2 presynapse GO:0098793 8.62 SLC2A1 PRRT2

Sources for Paroxysmal Choreoathetosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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