Aliases & Classifications for Paroxysmal Choreoathetosis

MalaCards integrated aliases for Paroxysmal Choreoathetosis:

Name: Paroxysmal Choreoathetosis 53 6
Paroxysmal Nonkinesigenic Dyskinesia 71

External Ids:

UMLS 71 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 glut1 deficiency syndrome 2, 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, globus pallidus and parietal lobe, and related phenotypes are behavior/neurological and 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 57)
# Related Disease Score Top Affiliating Genes
1 paroxysmal dyskinesia 31.7 PRRT2 PCDH19 DNMT1
2 glut1 deficiency syndrome 2 29.8 SLC2A1 PRRT2
3 hemiplegic migraine 29.8 SLC2A1 PRRT2
4 movement disease 29.7 SLC2A1 PRRT2
5 visual epilepsy 29.6 SLC2A1 PRRT2
6 benign familial infantile epilepsy 29.3 SLC2A1 PRRT2 PCDH19
7 epilepsy 28.3 SLC2A1 PRRT2 PCDH19 DNMT1
8 convulsions, familial infantile, with paroxysmal choreoathetosis 13.0
9 dystonia 9 12.3
10 paroxysmal nonkinesigenic dyskinesia 1 12.2
11 episodic kinesigenic dyskinesia 1 11.7
12 glucose transporter type 1 deficiency syndrome 11.7
13 familial paroxysmal nonkinesigenic dyskinesia 11.4
14 chorea, childhood-onset, with psychomotor retardation 10.3
15 choreatic disease 10.3
16 migraine with or without aura 1 10.3
17 seizure disorder 10.3
18 reflex epilepsy 10.2
19 dystonia 10.2
20 head injury 10.2
21 spasticity 10.2
22 seizures, benign familial neonatal, 1 10.0
23 huntington disease 10.0
24 ocular motor apraxia 10.0
25 ataxia and polyneuropathy, adult-onset 10.0
26 glut1 deficiency syndrome 1 10.0
27 sydenham chorea 10.0
28 basal ganglia calcification 10.0
29 hypoparathyroidism 10.0
30 hypoglycemic coma 10.0
31 hereditary spastic paraplegia 10.0
32 diabetes mellitus 10.0
33 episodic ataxia 10.0
34 hypoglycemia 10.0
35 adcy5-related dyskinesia 10.0
36 spastic paraparesis 10.0
37 encephalopathy 10.0
38 febrile seizures 10.0
39 infantile epilepsy syndrome 10.0
40 benign familial neonatal epilepsy 9.9 PRRT2 PCDH19
41 infancy electroclinical syndrome 9.9 PRRT2 PCDH19
42 dystonia, dopa-responsive 9.8 SLC2A1 PRRT2
43 childhood electroclinical syndrome 9.8 SLC2A1 PCDH19
44 generalized epilepsy with febrile seizures plus 9.8 PRRT2 PCDH19
45 alternating hemiplegia of childhood 9.8 SLC2A1 PRRT2
46 lennox-gastaut syndrome 9.8 SLC2A1 PCDH19
47 migraine with aura 9.8 SLC2A1 PRRT2
48 epilepsy, myoclonic juvenile 9.7 SLC2A1 PCDH19
49 focal epilepsy 9.7 SLC2A1 PCDH19
50 west syndrome 9.6 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.26 DNMT1 PCDH19 PRRT2 SLC2A1
2 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
Brain, Globus Pallidus, Parietal Lobe

Publications for Paroxysmal Choreoathetosis

Articles related to Paroxysmal Choreoathetosis:

(show top 50) (show all 134)
# Title Authors PMID Year
1
KCNMA1-linked channelopathy. 61
31427379 2019
2
Paroxysmal Dyskinesia in Children: from Genes to the Clinic. 61
30198221 2018
3
Myofibrillogenesis regulator 1 (MR-1): a potential therapeutic target for cancer and PNKD. 61
29103325 2018
4
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy 61
29545233 2018
5
Phenotypes, genotypes, and the management of paroxysmal movement disorders. 61
29600549 2018
6
A PDGFB mutation causes paroxysmal nonkinesigenic dyskinesia with brain calcification. 61
28556368 2017
7
Classification of involuntary movements in dogs: Paroxysmal dyskinesias. 61
28190498 2017
8
Movement disorders in multiple sclerosis and their treatment. 61
27874491 2016
9
Effective Treatment of Paroxysmal Nonkinesigenic Dyskinesia With Oxcarbazepine. 61
27046658 2016
10
Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients. 61
27098784 2016
11
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 61
26677014 2016
12
Clinical Features in Border Terrier Dogs with Paroxysmal Involuntary Movements. 61
30713898 2016
13
A New Alternative Drug With Fewer Adverse Effects in the Treatment of Sydenham Chorea: Levetiracetam Efficacy in a Child. 61
26166232 2015
14
Treatment of paroxysmal dyskinesias in children. 61
25864940 2015
15
Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. 61
25730884 2015
16
Paroxysmal movement disorders. 61
25432727 2015
17
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. 61
25107857 2015
18
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction. 61
25453601 2015
19
[Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis]. 61
25449067 2014
20
A rare paroxysmal movement disorder: mixed type of paroxysmal dyskinesia. 61
25720246 2014
21
[PRRT2 gene-related paroxysmal disorders]. 61
25297589 2014
22
Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review. 61
30363920 2014
23
Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes. 61
23768507 2014
24
Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation. 61
24074546 2014
25
Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus. 61
25359315 2014
26
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. 61
24370076 2013
27
Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis. 61
23073245 2013
28
Striatal infarct with paroxysmal nonkinesigenic dyskinesia. 61
22975836 2013
29
Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes. 61
23190448 2013
30
Paroxysmal nonkinesigenic dyskinesia with tremor. 61
24171125 2013
31
Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. 61
22967746 2012
32
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. 61
23077026 2012
33
Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin. 61
22464846 2012
34
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. 61
22209761 2012
35
Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. 61
22214848 2012
36
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 61
21832227 2011
37
Paroxysmal choreodystonic disorders. 61
21496595 2011
38
Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. 61
20716510 2010
39
Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families. 61
20158512 2010
40
Bilateral deep brain stimulation for treatment of medically refractory paroxysmal nonkinesigenic dyskinesia. 61
19799495 2010
41
Paroxysmal nonkinesigenic dyskinesia with depression treated by bilateral electroconvulsive therapy. 61
20686148 2010
42
A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues. 61
19589464 2009
43
Genetics of paroxysmal dyskinesias. 61
19348709 2009
44
Paroxysmal dyskinesias. 61
19364451 2009
45
[Paroxysmal dyskinesias]. 61
19222019 2009
46
Paroxysmal dyskinesia as an unusual and only presentation of subcortical white matter ischaemia: a report of two cases. 61
19803303 2008
47
Paroxysmal dyskinesias. 61
18025931 2007
48
Levetiracetam-responding paroxysmal nonkinesigenic dyskinesia. 61
17762321 2007
49
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. 61
17515540 2007
50
New family with paroxysmal exercise-induced dystonia and epilepsy. 61
17290464 2007

Variations for Paroxysmal Choreoathetosis

ClinVar genetic disease variations for Paroxysmal Choreoathetosis:

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

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 SLC2A1 PRRT2

Sources for Paroxysmal Choreoathetosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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