EKD1
MCID: EPS030
MIFTS: 33

Episodic Kinesigenic Dyskinesia 1 (EKD1)

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Episodic Kinesigenic Dyskinesia 1

MalaCards integrated aliases for Episodic Kinesigenic Dyskinesia 1:

Name: Episodic Kinesigenic Dyskinesia 1 57 12 53 75 13 15
Dystonia 10 57 53 25 75 29 6
Paroxysmal Kinesigenic Choreoathetosis 57 53 25 75 73
Paroxysmal Kinesigenic Dyskinesia 57 53 25 59 75
Familial Paroxysmal Kinesigenic Dyskinesia 53 25 59
Paroxysmal Kinesigenic Choreathetosis 53 59
Familial Paroxysmal Dystonia 25 75
Familial Pkd 53 59
Dyt10 57 75
Ekd1 57 75
Pkc 57 75
Pkd 57 75
Paroxysmal Kinesigenic Choreoathetosis; Pkc 57
Paroxysmal Kinesigenic Dyskinesia; Pkd 57
Episodic Kinesigenic Dyskinesia 25
Dystonia, Familial Paroxysmal 57
Dystonia 10; Dyt10 57
Dystonia, Type 10 40
Dyt-Prrt2 53

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
onset in childhood or adolescence (median age of 9 years)
increased male-to-female ratio (3-4 to 1)
symptoms precipitated by sudden movements
favorable response to anticonvulsants
symptoms often decrease or remit with age
prevalence of 1 in 150,000


HPO:

32
episodic kinesigenic dyskinesia 1:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 128200
Disease Ontology 12 DOID:0090053
ICD10 33 G24.8
Orphanet 59 ORPHA98809
UMLS via Orphanet 74 C1868682
ICD10 via Orphanet 34 G24.8
MedGen 42 C1868682
MeSH 44 D004421
UMLS 73 C1868682

Summaries for Episodic Kinesigenic Dyskinesia 1

NIH Rare Diseases : 53 Paroxysmal kinesigenic choreoathetosisĀ 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 paroxysmal kinesigenic choreoathetosis 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.

MalaCards based summary : Episodic Kinesigenic Dyskinesia 1, also known as dystonia 10, is related to episodic kinesigenic dyskinesia 2 and polycystic kidney disease, and has symptoms including dystonia and dystonia, paroxysmal. An important gene associated with Episodic Kinesigenic Dyskinesia 1 is PRRT2 (Proline Rich Transmembrane Protein 2). Related phenotypes are seizures and chorea

Disease Ontology : 12 A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in heterozygous mutation in the PRRT2 gene on chromosome 16p11.

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.

OMIM : 57 Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal dominant neurologic condition characterized by recurrent and brief attacks of involuntary movement triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Symptoms become less severe with age and show favorable response to anticonvulsant medications such as carbamazepine or phenytoin. It is the most common type of paroxysmal movement disorder. The condition is often misdiagnosed as an epileptic manifestation (summary by Chen et al., 2011). PKC shares some clinical features with benign familial infantile convulsions (BFIC2; 605751) and infantile convulsions and paroxysmal choreoathetosis (ICCA; 602066), which are allelic disorders. See also rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (608105), which maps to chromosome 16p12-p11.2. (128200)

UniProtKB/Swiss-Prot : 75 Episodic kinesigenic dyskinesia 1: An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis.

Related Diseases for Episodic Kinesigenic Dyskinesia 1

Graphical network of the top 20 diseases related to Episodic Kinesigenic Dyskinesia 1:



Diseases related to Episodic Kinesigenic Dyskinesia 1

Symptoms & Phenotypes for Episodic Kinesigenic Dyskinesia 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
orofacial dyskinesia

Neurologic Central Nervous System:
dystonia, episodic
choreoathetosis, episodic
dyskinesia, episodic
abnormal involuntary movements
infantile seizures, afebrile, with no neurologic sequelae (in 40% of patients)


Clinical features from OMIM:

128200

Human phenotypes related to Episodic Kinesigenic Dyskinesia 1:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 very rare (1%) Occasional (29-5%) HP:0001250
2 chorea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002072
3 dyskinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100660
4 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
5 writer's cramp 59 32 occasional (7.5%) Occasional (29-5%) HP:0002356
6 athetosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002305
7 auras 59 32 frequent (33%) Frequent (79-30%) HP:0011157
8 dystonia 59 Very frequent (99-80%)
9 abnormality of the face 32 HP:0000271
10 involuntary movements 59 Very frequent (99-80%)
11 paroxysmal dystonia 32 HP:0002268
12 orofacial dyskinesia 32 HP:0002310
13 paroxysmal choreoathetosis 32 HP:0007098

UMLS symptoms related to Episodic Kinesigenic Dyskinesia 1:


dystonia, dystonia, paroxysmal

GenomeRNAi Phenotypes related to Episodic Kinesigenic Dyskinesia 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.32 SLC9A5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.32 SLC9A5 KCNA1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.32 SLC9A5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.32 KCNA1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.32 SLC9A5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.32 SLC9A5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.32 SLC9A5
8 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.32 SLC9A5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.32 SLC9A5

Drugs & Therapeutics for Episodic Kinesigenic Dyskinesia 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dystonia Genotype-Phenotype Correlation Recruiting NCT03428009

Search NIH Clinical Center for Episodic Kinesigenic Dyskinesia 1

Genetic Tests for Episodic Kinesigenic Dyskinesia 1

Genetic tests related to Episodic Kinesigenic Dyskinesia 1:

# Genetic test Affiliating Genes
1 Dystonia 10 29 PRRT2

Anatomical Context for Episodic Kinesigenic Dyskinesia 1

Publications for Episodic Kinesigenic Dyskinesia 1

Articles related to Episodic Kinesigenic Dyskinesia 1:

# Title Authors Year
1
Physiological and therapeutic effects of bilateral intermediate midbrain crusotomy for atheto-dystonia; 10 cases. ( 13312005 )
1955

Variations for Episodic Kinesigenic Dyskinesia 1

UniProtKB/Swiss-Prot genetic disease variations for Episodic Kinesigenic Dyskinesia 1:

75
# Symbol AA change Variation ID SNP ID
1 PRRT2 p.Arg266Trp VAR_067322 rs387907128
2 PRRT2 p.Trp281Arg VAR_067323
3 PRRT2 p.Ala287Thr VAR_067324
4 PRRT2 p.Gly305Arg VAR_067325 rs767799831
5 PRRT2 p.Arg308Cys VAR_067326 rs932713001

ClinVar genetic disease variations for Episodic Kinesigenic Dyskinesia 1:

6
(show top 50) (show all 104)
# 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.514_517delTCTG (p.Ser172Argfs) deletion Pathogenic rs730882065 GRCh38 Chromosome 16, 29813568: 29813571
4 PRRT2 NM_145239.2(PRRT2): c.972delA (p.Val325Serfs) deletion Pathogenic rs730882066 GRCh38 Chromosome 16, 29814425: 29814425
5 PRRT2 NM_145239.2(PRRT2): c.972delA (p.Val325Serfs) deletion Pathogenic rs730882066 GRCh37 Chromosome 16, 29825746: 29825746
6 PRRT2 NM_145239.2(PRRT2): c.629dupC (p.Ala211Serfs) duplication Pathogenic rs730882067 GRCh38 Chromosome 16, 29813683: 29813683
7 PRRT2 NM_145239.2(PRRT2): c.629dupC (p.Ala211Serfs) duplication Pathogenic rs730882067 GRCh37 Chromosome 16, 29825004: 29825004
8 PRRT2 NM_145239.2(PRRT2): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs387907127 GRCh37 Chromosome 16, 29824862: 29824862
9 PRRT2 NM_145239.2(PRRT2): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs387907127 GRCh38 Chromosome 16, 29813541: 29813541
10 PRRT2 NM_145239.2(PRRT2): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic rs387907128 GRCh37 Chromosome 16, 29825171: 29825171
11 PRRT2 NM_145239.2(PRRT2): c.796C> T (p.Arg266Trp) single nucleotide variant Pathogenic rs387907128 GRCh38 Chromosome 16, 29813850: 29813850
12 PRRT2 NM_145239.2(PRRT2): c.649delC (p.Arg217Glufs) deletion Pathogenic rs730882071 GRCh37 Chromosome 16, 29825024: 29825024
13 PRRT2 NM_145239.2(PRRT2): c.649delC (p.Arg217Glufs) deletion Pathogenic rs730882071 GRCh38 Chromosome 16, 29813703: 29813703
14 PRRT2 NM_145239.2(PRRT2): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs397514579 GRCh37 Chromosome 16, 29825123: 29825123
15 PRRT2 NM_145239.2(PRRT2): c.748C> T (p.Gln250Ter) single nucleotide variant Pathogenic rs397514579 GRCh38 Chromosome 16, 29813802: 29813802
16 PRRT2 NM_145239.2(PRRT2): c.510dupT (p.Leu171Serfs) duplication Pathogenic rs397515576 GRCh37 Chromosome 16, 29824885: 29824885
17 PRRT2 NM_145239.2(PRRT2): c.510dupT (p.Leu171Serfs) duplication Pathogenic rs397515576 GRCh38 Chromosome 16, 29813564: 29813564
18 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic/Likely pathogenic rs587778771 GRCh37 Chromosome 16, 29825024: 29825024
19 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic/Likely pathogenic rs587778771 GRCh38 Chromosome 16, 29813703: 29813703
20 PRRT2 NM_145239.2(PRRT2): c.1013T> C (p.Val338Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144540943 GRCh37 Chromosome 16, 29825949: 29825949
21 PRRT2 NM_145239.2(PRRT2): c.1013T> C (p.Val338Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144540943 GRCh38 Chromosome 16, 29814628: 29814628
22 PRRT2 NM_145239.2(PRRT2): c.14G> C (p.Ser5Thr) single nucleotide variant Uncertain significance rs745742339 GRCh37 Chromosome 16, 29824389: 29824389
23 PRRT2 NM_145239.2(PRRT2): c.14G> C (p.Ser5Thr) single nucleotide variant Uncertain significance rs745742339 GRCh38 Chromosome 16, 29813068: 29813068
24 PRRT2 NM_145239.2(PRRT2): c.133C> T (p.Pro45Ser) single nucleotide variant Likely benign rs11556732 GRCh38 Chromosome 16, 29813187: 29813187
25 PRRT2 NM_145239.2(PRRT2): c.133C> T (p.Pro45Ser) single nucleotide variant Likely benign rs11556732 GRCh37 Chromosome 16, 29824508: 29824508
26 PRRT2 NM_145239.2(PRRT2): c.415G> A (p.Ala139Thr) single nucleotide variant Uncertain significance rs763634807 GRCh38 Chromosome 16, 29813469: 29813469
27 PRRT2 NM_145239.2(PRRT2): c.415G> A (p.Ala139Thr) single nucleotide variant Uncertain significance rs763634807 GRCh37 Chromosome 16, 29824790: 29824790
28 PRRT2 NM_145239.2(PRRT2): c.640G> C (p.Ala214Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs745594874 GRCh38 Chromosome 16, 29813694: 29813694
29 PRRT2 NM_145239.2(PRRT2): c.640G> C (p.Ala214Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs745594874 GRCh37 Chromosome 16, 29825015: 29825015
30 PRRT2 NM_145239.2(PRRT2): c.644C> G (p.Pro215Arg) single nucleotide variant Benign/Likely benign rs200926711 GRCh38 Chromosome 16, 29813698: 29813698
31 PRRT2 NM_145239.2(PRRT2): c.644C> G (p.Pro215Arg) single nucleotide variant Benign/Likely benign rs200926711 GRCh37 Chromosome 16, 29825019: 29825019
32 PRRT2 NM_145239.2(PRRT2): c.647C> A (p.Pro216His) single nucleotide variant Likely benign rs76335820 GRCh38 Chromosome 16, 29813701: 29813701
33 PRRT2 NM_145239.2(PRRT2): c.647C> A (p.Pro216His) single nucleotide variant Likely benign rs76335820 GRCh37 Chromosome 16, 29825022: 29825022
34 PRRT2 NM_145239.2(PRRT2): c.971delG (p.Gly324Glufs) deletion Likely pathogenic rs796052941 GRCh38 Chromosome 16, 29814424: 29814424
35 PRRT2 NM_145239.2(PRRT2): c.971delG (p.Gly324Glufs) deletion Likely pathogenic rs796052941 GRCh37 Chromosome 16, 29825745: 29825745
36 PRRT2 NM_145239.2(PRRT2): c.719G> A (p.Arg240Gln) single nucleotide variant Uncertain significance rs758246761 GRCh37 Chromosome 16, 29825094: 29825094
37 PRRT2 NM_145239.2(PRRT2): c.719G> A (p.Arg240Gln) single nucleotide variant Uncertain significance rs758246761 GRCh38 Chromosome 16, 29813773: 29813773
38 PRRT2 NM_145239.2(PRRT2): c.564G> A (p.Gln188=) single nucleotide variant Benign rs545201760 GRCh37 Chromosome 16, 29824939: 29824939
39 PRRT2 NM_145239.2(PRRT2): c.564G> A (p.Gln188=) single nucleotide variant Benign rs545201760 GRCh38 Chromosome 16, 29813618: 29813618
40 PRRT2 NM_145239.2(PRRT2): c.773G> A (p.Gly258Glu) single nucleotide variant Benign/Likely benign rs560303559 GRCh37 Chromosome 16, 29825148: 29825148
41 PRRT2 NM_145239.2(PRRT2): c.773G> A (p.Gly258Glu) single nucleotide variant Benign/Likely benign rs560303559 GRCh38 Chromosome 16, 29813827: 29813827
42 PRRT2 NM_145239.2(PRRT2): c.455C> A (p.Pro152His) single nucleotide variant Uncertain significance rs760278435 GRCh37 Chromosome 16, 29824830: 29824830
43 PRRT2 NM_145239.2(PRRT2): c.455C> A (p.Pro152His) single nucleotide variant Uncertain significance rs760278435 GRCh38 Chromosome 16, 29813509: 29813509
44 PRRT2 NC_000016.10: g.(?_29812990)_(29815881_?)dup duplication Uncertain significance GRCh37 Chromosome 16, 29824311: 29827202
45 PRRT2 NC_000016.10: g.(?_29812990)_(29815881_?)dup duplication Uncertain significance GRCh38 Chromosome 16, 29812990: 29815881
46 PRRT2 NM_145239.2(PRRT2): c.635A> G (p.Asn212Ser) single nucleotide variant Uncertain significance rs779020826 GRCh37 Chromosome 16, 29825010: 29825010
47 PRRT2 NM_145239.2(PRRT2): c.635A> G (p.Asn212Ser) single nucleotide variant Uncertain significance rs779020826 GRCh38 Chromosome 16, 29813689: 29813689
48 PRRT2 NM_145239.2(PRRT2): c.923G> A (p.Arg308His) single nucleotide variant Uncertain significance rs989894169 GRCh37 Chromosome 16, 29825697: 29825697
49 PRRT2 NM_145239.2(PRRT2): c.923G> A (p.Arg308His) single nucleotide variant Uncertain significance rs989894169 GRCh38 Chromosome 16, 29814376: 29814376
50 PRRT2 NM_145239.2(PRRT2): c.932G> C (p.Arg311Pro) single nucleotide variant Uncertain significance rs866838115 GRCh37 Chromosome 16, 29825706: 29825706

Copy number variations for Episodic Kinesigenic Dyskinesia 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 100036 16 29560500 30104842 Microdeletions DOC2A Paroxysmal kinesigenic dyskinesia
2 100037 16 29560500 30104842 Microdeletions KCTD13 Paroxysmal kinesigenic dyskinesia
3 100038 7 65731379 65743252 Microdeletions KCTD7 Paroxysmal kinesigenic dyskinesia
4 100039 16 29560500 30104842 Microdeletions MAPK Paroxysmal kinesigenic dyskinesia
5 100040 16 29560500 30104842 Microdeletions MAPK3 Paroxysmal kinesigenic dyskinesia
6 100041 16 29560500 30104842 Microdeletions SEZ6L2 Paroxysmal kinesigenic dyskinesia

Expression for Episodic Kinesigenic Dyskinesia 1

Search GEO for disease gene expression data for Episodic Kinesigenic Dyskinesia 1.

Pathways for Episodic Kinesigenic Dyskinesia 1

GO Terms for Episodic Kinesigenic Dyskinesia 1

Cellular components related to Episodic Kinesigenic Dyskinesia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 presynaptic membrane GO:0042734 8.96 KCNA1 PRRT2
2 axon terminus GO:0043679 8.62 KCNA1 PRRT2

Biological processes related to Episodic Kinesigenic Dyskinesia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 8.62 KCNA1 SLC9A5

Sources for Episodic Kinesigenic Dyskinesia 1

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