MCID: PRX035
MIFTS: 39

Paroxysmal Dyskinesia malady

Neuronal diseases, Rare diseases categories
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Summaries for Paroxysmal Dyskinesia

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65Wikipedia, 33MalaCards
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Wikipedia:65 The paroxysmal dyskinesias (PD) are a group of movement disorders characterized by attacks of... more...

MalaCards: Paroxysmal Dyskinesia, also known as paroxysmal dystonic choreoathetosis, is related to familial paroxysmal nonkinesigenic dyskinesia and migraine. An important gene associated with Paroxysmal Dyskinesia is KCNMA1 (potassium large conductance calcium-activated channel, subfamily M, alpha member 1), and among its related pathways is Selected targets of ESR1. The compounds 4-aminopyridine and l-tryptophan have been mentioned in the context of this disorder. Related mouse phenotypes are no phenotypic analysis and behavior/neurological.

Aliases & Classifications for Paroxysmal Dyskinesia

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49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

paroxysmal dyskinesia 49
paroxysmal dystonic choreoathetosis 49
paroxysmal choreoathetosis 49
dyskinesias, paroxysmal 62


External Ids:

MESH via Orphanet36 D002819
ICD10 via Orphanet26 G24.8
UMLS via Orphanet63 C0752210

Related Diseases for Paroxysmal Dyskinesia

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17GeneCards, 18GeneDecks
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Diseases related to Paroxysmal Dyskinesia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1familial paroxysmal nonkinesigenic dyskinesia30.6PNKD
2migraine30.5CNR1, PRRT2
3episodic kinesigenic dyskinesia 130.4PRRT2
4huntington's disease30.3CNR1
5episodic ataxia30.3PNKD
6diabetes mellitus30.1SLC2A1, DYT10, CNR1
7paroxysmal choreoathetosis11.0
8infantile convulsions and paroxysmal choreoathetosis, familial10.7
9generalized epilepsy and paroxysmal dyskinesia10.5
10pseudohypoparathyroidism10.4
11insulinoma10.3
12dystonia10.3
13chorea10.3
14head injury10.3
15spasticity10.3
16hemiplegic migraine10.2
17ataxia10.2
18benign familial infantile epilepsy10.1
19hypoparathyroidism10.1
20reflex epilepsy10.1
21dystonia 810.1
22dystonia 910.1
23seizure disorder10.1
24glut1 deficiency syndrome 210.1SLC2A1
25hemidystonia10.1
26cystinuria10.1
27hypoglycemia10.1
28early onset absence epilepsy10.1
29hypothyroidism10.1
30multiple sclerosis10.1
31neuroacanthocytosis10.1
32familial paroxysmal kinesigenic dyskinesia10.1
33mental retardation10.1
34myoclonus10.1
35impotence10.0KCNMA1, DYT10
36movement disease10.0KCNMA1, SLC2A1
37cholera10.0DYT10, CNR1, KCNMA1
38papillary thyroid carcinoma10.0SLC2A1, DYT10
39epilepsy syndrome10.0KCNMA1, CNR1, SLC2A1
40diabetic retinopathy10.0DYT10, SLC2A1
41cerebrovascular disease10.0SLC2A1, CNR1, KCNMA1
42ischemia10.0DYT10, CNR1, KMO
43type 2 diabetes mellitus10.0SLC2A1, DYT10, CNR1
44insulin resistance10.0CNR1, DYT10, SLC2A1
45astrocytoma9.9SLC2A1, DYT10, CNR1, KCNMA1
46glioblastoma multiforme9.9KCNMA1, CNR1, DYT10, SLC2A1
47malignant glioma9.9FGF14, SLC2A1, DYT10, CNR1, KCNMA1

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



Diseases related to paroxysmal dyskinesia

Symptoms for Paroxysmal Dyskinesia

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Drugs & Therapeutics for Paroxysmal Dyskinesia

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Paroxysmal Dyskinesia

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Anatomical Context for Paroxysmal Dyskinesia

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Animal Models for Paroxysmal Dyskinesia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Paroxysmal Dyskinesia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.4PNKD, CNR1, SLC16A2, SLC2A1
2MP:00053868.2FGF14, SLC2A1, CNR1, KCNMA1, PNKD
3MP:00036317.7FGF14, SLC2A1, SLC16A2, CNR1, KCNMA1, PNKD

Publications for Paroxysmal Dyskinesia

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52PubMed
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Articles related to Paroxysmal Dyskinesia:

(show top 50)    (show all 64)
idTitleAuthorsYear
1
Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia. (22752065)
2013
2
Caffeine improved paroxysmal dyskinesia caused by the PRRT2 mutation. (23536488)
2013
3
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. (23077017)
2012
4
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. (22209761)
2012
5
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. (23077024)
2012
6
PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. (23077026)
2012
7
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. (21487022)
2011
8
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. (20830593)
2011
9
A case of mixed type of paroxysmal dyskinesia: is there an overlap between two clinical categories of paroxysmal dyskinesia? (20585818)
2011
10
Paroxysmal dyskinesia with dAcjA vu aura. (20160226)
2010
11
Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome? (20803517)
2010
12
Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11. (21060786)
2010
13
Characterization and mode of inheritance of a paroxysmal dyskinesia in Chinook dogs. (21054538)
2010
14
Paroxysmal dyskinesias. (19364451)
2009
15
Genetics of paroxysmal dyskinesias. (19348709)
2009
16
Pseudohypoparathyroidism manifesting with paroxysmal dyskinesias and seizures. (19185018)
2009
17
Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes. (19047496)
2008
18
Neuroacanthocytosis and carbamazepine responsive paroxysmal dyskinesias. (18314374)
2008
19
Paroxysmal dyskinesia with interictal myoclonus and dystonia: a report of two cases. (18042422)
2008
20
Paroxysmal dyskinesia as an unusual and only presentation of subcortical white matter ischaemia: a report of two cases. (19803303)
2008
21
Titubation and paroxysmal dyskinesia: an unusual presentation of hypothyroidism. (17325092)
2007
22
Neuroanatomical substrates for paroxysmal dyskinesia in lethargic mice. (17561408)
2007
23
Channelopathy linked to epilepsy and paroxysmal dyskinesia. (16086497)
2005
24
Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. (15629959)
2005
25
Psychogenic paroxysmal dyskinesia following paroxysmal hemidystonia in multiple sclerosis. (16186511)
2005
26
Paroxysmal dyskinesia with secondary generalization of tonic-clonic seizures in pseudohypoparathyroidism. (15660785)
2005
27
Channelopathy: hypothesis of a common pathophysiologic mechanism in different forms of paroxysmal dyskinesia. (15797178)
2005
28
X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. (15834651)
2005
29
Striatal increase of extracellular dopamine levels during dystonic episodes in a genetic model of paroxysmal dyskinesia. (15207264)
2004
30
The NMDA receptor NR2B subtype selective antagonist Ro 25-6981 aggravates paroxysmal dyskinesia in the dt(sz) mutant. (12498913)
2003
31
The kynurenine 3-hydroxylase inhibitor Ro 61-8048 improves dystonia in a genetic model of paroxysmal dyskinesia. (14555184)
2003
32
Moyamoya-induced paroxysmal dyskinesia. (14502675)
2003
33
Effects of pharmacological manipulations of cannabinoid receptors on severity of dystonia in a genetic model of paroxysmal dyskinesia. (12421641)
2002
34
Triggers of paroxysmal dyskinesia in the calcium channel mouse mutant tottering. (12151038)
2002
35
Ataxia and paroxysmal dyskinesia in mice lacking axonally transported FGF14. (12123606)
2002
36
Secondary causes of paroxysmal dyskinesia. (11968464)
2002
37
Paroxysmal dyskinesia in phenytoin toxicity. (12583484)
2002
38
Early-onset absence epilepsy and paroxysmal dyskinesia. (12366739)
2002
39
Epilepsy and paroxysmal dyskinesia: co-occurrence and differential diagnosis. (11968467)
2002
40
Idiopathic epilepsy and paroxysmal dyskinesia. (11520321)
2001
41
Paroxysmal Dyskinesia. (11581528)
2001
42
CGS 21680 exerts marked antidystonic effects in a genetic model of paroxysmal dyskinesia. (10996595)
2000
43
Multicenter study of paroxysmal dyskinesias in Japan--clinical and pedigree analysis. (10435504)
1999
44
Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family. (9860304)
1998
45
Clozapine treatment of persistent paroxysmal dyskinesia associated with concomitant paroxetine and sumatriptan use. (9209732)
1997
46
Familial paroxysmal dyskinesia. (9240016)
1997
47
Haloperidol for nonkinesiogenic paroxysmal dyskinesia. (7387459)
1980
48
The ocular tilt reaction. A paroxysmal dyskinesia associated with elliptical nystagmus. (889516)
1977
49
Cystinuria with mental retardation and paroxysmal dyskinesia in 2 brothers. (4421405)
1974
50
Paroxysmal dyskinesia. A case responsive to benztropine mesylate. (4965319)
1967

Variations for Paroxysmal Dyskinesia

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Expression for genes affiliated with Paroxysmal Dyskinesia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Paroxysmal Dyskinesia

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Pathways for genes affiliated with Paroxysmal Dyskinesia

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50PathCards, 12EMD Millipore
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Pathways related to Paroxysmal Dyskinesia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SLC2A1, KCNMA1

Compounds for genes affiliated with Paroxysmal Dyskinesia

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45Novoseek, 29IUPHAR, 51PharmGKB, 24HMDB, 11DrugBank, 3BitterDB, 61Tocris Bioscience
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Compounds related to Paroxysmal Dyskinesia according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
14-aminopyridine45 2911.0CNR1, KCNMA1
2l-tryptophan51 29 45 24 1114.0SLC16A2, KMO
3quinine45 29 3 51 1114.0KMO, KCNMA1
4tetraethylammonium45 29 1112.0KCNMA1, CNR1
5phenytoin45 51 29 1112.7SLC2A1, CNR1
6phenylephrine45 29 24 1112.7KCNMA1, DYT10
7metformin45 51 1111.6CNR1, SLC2A1
8prostaglandin f2alpha459.6SLC2A1, DYT10
9olanzapine45 51 29 24 1113.6SLC2A1, CNR1
10glibenclamide45 29 51 6112.6SLC2A1, CNR1, KCNMA1
11aspirin45 51 29 2412.5KCNMA1, CNR1, SLC2A1
12gaba459.5SLC2A1, CNR1, KCNMA1
13clozapine45 29 51 1112.5SLC2A1, CNR1
14histamine45 29 2411.5KCNMA1, CNR1, DYT10
15arachidonic acid45 29 24 1112.4KCNMA1, CNR1, DYT10
16forskolin45 51 1111.4SLC2A1, DYT10, KCNMA1
17anisomycin45 1110.3SLC2A1, DYT10
18carbachol45 29 1111.3SLC2A1, DYT10, CNR1
19ly294002459.3SLC2A1, DYT10, CNR1
20nmda45 2910.2KCNMA1, KMO, CNR1, DYT10
21glucose459.1SLC2A1, CNR1, KCNMA1, PNKD
22thapsigargin45 6110.0SLC2A1, DYT10, CNR1, KCNMA1
23adenylate459.0KCNMA1, CNR1, DYT10, SLC2A1
24cyclic amp45 249.9DYT10, CNR1, KCNMA1
25glutamate458.7SLC2A1, DYT10, CNR1, KMO, KCNMA1

GO Terms for genes affiliated with Paroxysmal Dyskinesia

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16Gene Ontology
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Cellular components related to Paroxysmal Dyskinesia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:0059019.7SLC2A1, KCNMA1

Biological processes related to Paroxysmal Dyskinesia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of insulin secretionGO:0507969.5SLC2A1, CNR1
2response to osmotic stressGO:0069709.4SLC2A1, KCNMA1

Products for genes affiliated with Paroxysmal Dyskinesia

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Sources for Paroxysmal Dyskinesia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet