MCID: FML185
MIFTS: 20

Familial Paroxysmal Kinesigenic Dyskinesia

Categories: Rare diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Familial Paroxysmal Kinesigenic Dyskinesia

MalaCards integrated aliases for Familial Paroxysmal Kinesigenic Dyskinesia:

Name: Familial Paroxysmal Kinesigenic Dyskinesia 23 50 24 25 56
Paroxysmal Kinesigenic Choreoathetosis 23 50 24 25 69
Paroxysmal Kinesigenic Dyskinesia 23 50 24 25 56
Paroxysmal Kinesigenic Choreathetosis 50 56
Familial Pkd 50 56
Episodic Kinesigenic Dyskinesia 25
Familial Paroxysmal Dystonia 25
Dystonia 10 25
Dyt-Prrt2 50

Characteristics:

Orphanet epidemiological data:

56
paroxysmal kinesigenic dyskinesia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

GeneReviews:

23
Penetrance The penetrance for familial pkd has been reported to be between 80% and 90% in both males and females [tomita et al 1999, spacey et al 2002]...

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA98809
UMLS via Orphanet 70 C1868682
ICD10 via Orphanet 34 G24.8

Summaries for Familial Paroxysmal Kinesigenic Dyskinesia

NIH Rare Diseases : 50 dystonia 10 involves episodes of irregular jerking or shaking movements that are induced by sudden motion, such as standing up quickly or being startled. cold, hyperventilation, and mental tension have also been reported to trigger attacks in some cases. the exact type of abnormal movement varies among affected individuals but may include prolonged muscle contractions, writhing motions, or fast, "dance-like" motions. one or both sides of the body may be affected. the episodes can sometimes be preceded by a crawling or tingling sensation in the affected body part and do not involve a loss of consciousness. individuals with dystonia 10 usually begin to show signs and symptoms of the disorder during childhood or adolescence. episodes typically last less than 5 minutes, though they may last up to several hours. the frequency of episodes ranges from one per month to 100 per day. in most cases, the episodes occur less often with age. last updated: 5/27/2015

MalaCards based summary : Familial Paroxysmal Kinesigenic Dyskinesia, also known as paroxysmal kinesigenic choreoathetosis, is related to seizures, benign familial infantile, 2 and convulsions, familial infantile, with paroxysmal choreoathetosis, and has symptoms including dystonia and dystonia, paroxysmal. An important gene associated with Familial Paroxysmal Kinesigenic Dyskinesia is PRRT2 (Proline Rich Transmembrane Protein 2).

Genetics Home Reference : 25 Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body.

GeneReviews: NBK1460

Related Diseases for Familial Paroxysmal Kinesigenic Dyskinesia

Diseases related to Familial Paroxysmal Kinesigenic Dyskinesia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
id Related Disease Score Top Affiliating Genes
1 seizures, benign familial infantile, 2 30.5 PRRT2 SLC9A5
2 convulsions, familial infantile, with paroxysmal choreoathetosis 11.8
3 episodic kinesigenic dyskinesia 1 11.8
4 epilepsy 10.3
5 hypoparathyroidism 10.2
6 reflex epilepsy 10.0
7 myelitis 10.0
8 muscular dystrophy 10.0
9 arachnoid cysts 10.0
10 paroxysmal choreoathetosis 10.0
11 becker muscular dystrophy 10.0
12 arachnoiditis 10.0
13 bardet-biedl syndrome 2 9.5 PRRT2 SLC9A5
14 fibrous dysplasia/mccune-albright syndrome 9.4 PRRT2 SLC9A5

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



Diseases related to Familial Paroxysmal Kinesigenic Dyskinesia

Symptoms & Phenotypes for Familial Paroxysmal Kinesigenic Dyskinesia

UMLS symptoms related to Familial Paroxysmal Kinesigenic Dyskinesia:


dystonia, dystonia, paroxysmal

Drugs & Therapeutics for Familial Paroxysmal Kinesigenic Dyskinesia

Search Clinical Trials , NIH Clinical Center for Familial Paroxysmal Kinesigenic Dyskinesia

Genetic Tests for Familial Paroxysmal Kinesigenic Dyskinesia

Genetic tests related to Familial Paroxysmal Kinesigenic Dyskinesia:

id Genetic test Affiliating Genes
1 Familial Paroxysmal Kinesigenic Dyskinesia 24 PRRT2

Anatomical Context for Familial Paroxysmal Kinesigenic Dyskinesia

Publications for Familial Paroxysmal Kinesigenic Dyskinesia

Articles related to Familial Paroxysmal Kinesigenic Dyskinesia:

id Title Authors Year
1
A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients. ( 27920401 )
2016
2
Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation. ( 23771590 )
2013
3
Mutation analysis of the sodium/hydrogen exchanger gene (NHE5) in familial paroxysmal kinesigenic dyskinesia. ( 12203045 )
2002
4
Familial Paroxysmal Kinesigenic Dyskinesia ( 20301633 )
1993

Variations for Familial Paroxysmal Kinesigenic Dyskinesia

ClinVar genetic disease variations for Familial Paroxysmal Kinesigenic Dyskinesia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PRRT2 PRRT2, 1-BP DUP, 649C duplication Pathogenic
2 PRRT2 NM_145239.2(PRRT2): c.514_517delTCTG (p.Ser172Argfs) deletion Pathogenic rs730882065 GRCh37 Chromosome 16, 29824889: 29824892
3 PRRT2 NM_145239.2(PRRT2): c.972delA (p.Val325Serfs) deletion Pathogenic rs730882066 GRCh38 Chromosome 16, 29814425: 29814425
4 PRRT2 NM_145239.2(PRRT2): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs387907127 GRCh37 Chromosome 16, 29824862: 29824862
5 PRRT2 NM_145239.2(PRRT2): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic rs387907128 GRCh37 Chromosome 16, 29825171: 29825171
6 PRRT2 NM_145239.2(PRRT2): c.649delC (p.Arg217Glufs) deletion Pathogenic rs730882071 GRCh37 Chromosome 16, 29825024: 29825024
7 PRRT2 NM_145239.2(PRRT2): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs397514579 GRCh37 Chromosome 16, 29825123: 29825123
8 PRRT2 NM_145239.2(PRRT2): c.510dupT (p.Leu171Serfs) duplication Pathogenic rs397515576 GRCh37 Chromosome 16, 29824885: 29824885
9 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic rs587778771 GRCh37 Chromosome 16, 29825024: 29825024

Expression for Familial Paroxysmal Kinesigenic Dyskinesia

Search GEO for disease gene expression data for Familial Paroxysmal Kinesigenic Dyskinesia.

Pathways for Familial Paroxysmal Kinesigenic Dyskinesia

GO Terms for Familial Paroxysmal Kinesigenic Dyskinesia

Sources for Familial Paroxysmal Kinesigenic Dyskinesia

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