MCID: FML186
MIFTS: 33

Familial Paroxysmal Nonkinesigenic Dyskinesia

Categories: Neuronal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Familial Paroxysmal Nonkinesigenic Dyskinesia

MalaCards integrated aliases for Familial Paroxysmal Nonkinesigenic Dyskinesia:

Name: Familial Paroxysmal Nonkinesigenic Dyskinesia 24 25
Paroxysmal Nonkinesigenic Dyskinesia 24 25 13 73
Paroxysmal Dystonic Choreoathetosis 24 25
Pnkd 24 25
Paroxystic Non-Kinesigenic Choreoathetosis 59
Dyskinesia, Nonkinesigenic, Paroxysmal 40
Paroxysmal Non-Kinesigenic Dyskinesia 59
Familial Paroxysmal Choreoathetosis 25
Nonkinesigenic Choreoathetosis 25
Mount-Reback Syndrome 25
Pdc 25

Characteristics:

Orphanet epidemiological data:

59
paroxysmal non-kinesigenic dyskinesia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;

GeneReviews:

24
Penetrance The penetrance for familial pnkd is greater than 90% in both males and females [fink et al 1997, jarman et al 1997, tomita et al 1999, lee et al 2004]. lee et al [2004] determined that 50 of 52 individuals with a pnkd pathogenic variant had the phenotype; the remaining two individuals were too young for phenotype to be clarified. bruno et al [2007] calculated the penetrance of pnkd in individuals with pnkd pathogenic variants to be 98%; the asymptomatic individual in the study was too young to be considered unaffected...

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA98810
UMLS via Orphanet 74 C1869117
MESH via Orphanet 45 C537181
ICD10 via Orphanet 34 G24.8
UMLS 73 C1869117

Summaries for Familial Paroxysmal Nonkinesigenic Dyskinesia

Genetics Home Reference : 25 Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes episodes of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movement of the body.

MalaCards based summary : Familial Paroxysmal Nonkinesigenic Dyskinesia, also known as paroxysmal nonkinesigenic dyskinesia, is related to paroxysmal nonkinesigenic dyskinesia 1 and pyruvate dehydrogenase e1-alpha deficiency, and has symptoms including torticollis, dystonia, paroxysmal and myokymia. An important gene associated with Familial Paroxysmal Nonkinesigenic Dyskinesia is PNKD (Paroxysmal Nonkinesigenic Dyskinesia). Affiliated tissues include globus pallidus and brain, and related phenotypes are paroxysmal dyskinesia and choreoathetosis

Wikipedia : 76 Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is an episodic movement disorder first described by Mount... more...

GeneReviews: NBK1221

Related Diseases for Familial Paroxysmal Nonkinesigenic Dyskinesia

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



Diseases related to Familial Paroxysmal Nonkinesigenic Dyskinesia

Symptoms & Phenotypes for Familial Paroxysmal Nonkinesigenic Dyskinesia

Human phenotypes related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 paroxysmal dyskinesia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007166
2 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
3 hyperkinesis 59 32 frequent (33%) Frequent (79-30%) HP:0002487
4 trismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000211
5 torticollis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000473
6 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
7 rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002063
8 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
9 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
10 generalized muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003324
11 staring gaze 59 32 occasional (7.5%) Occasional (29-5%) HP:0025401
12 dyskinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100660
13 dystonia 59 Very frequent (99-80%)
14 chorea 59 Frequent (79-30%)
15 involuntary movements 59 Frequent (79-30%)

UMLS symptoms related to Familial Paroxysmal Nonkinesigenic Dyskinesia:


torticollis, dystonia, paroxysmal, myokymia

Drugs & Therapeutics for Familial Paroxysmal Nonkinesigenic Dyskinesia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Transcranial Magnetic Stimulation (TMS) Studies of Dystonia Completed NCT00017875
2 Dystonia Genotype-Phenotype Correlation Recruiting NCT03428009

Search NIH Clinical Center for Familial Paroxysmal Nonkinesigenic Dyskinesia

Genetic Tests for Familial Paroxysmal Nonkinesigenic Dyskinesia

Anatomical Context for Familial Paroxysmal Nonkinesigenic Dyskinesia

MalaCards organs/tissues related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

41
Globus Pallidus, Brain

Publications for Familial Paroxysmal Nonkinesigenic Dyskinesia

Articles related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

(show all 21)
# Title Authors Year
1
Effective Treatment of Paroxysmal Nonkinesigenic Dyskinesia With Oxcarbazepine. ( 27046658 )
2016
2
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. ( 25107857 )
2014
3
Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus. ( 25359315 )
2014
4
Paroxysmal nonkinesigenic dyskinesia with tremor. ( 24171125 )
2013
5
Striatal infarct with paroxysmal nonkinesigenic dyskinesia. ( 22975836 )
2013
6
Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. ( 22967746 )
2012
7
Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. ( 22214848 )
2012
8
Bilateral deep brain stimulation for treatment of medically refractory paroxysmal nonkinesigenic dyskinesia. ( 19799495 )
2010
9
Paroxysmal nonkinesigenic dyskinesia with depression treated by bilateral electroconvulsive therapy. ( 20686148 )
2010
10
A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues. ( 19589464 )
2009
11
Paroxysmal nonkinesigenic dyskinesias due to recurrent hypoglycemia caused by an insulinoma. ( 19235926 )
2009
12
Levetiracetam-responding paroxysmal nonkinesigenic dyskinesia. ( 17762321 )
2007
13
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. ( 17515540 )
2007
14
Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. ( 16632198 )
2006
15
Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. ( 16972263 )
2006
16
Complete suppression of paroxysmal nonkinesigenic dyskinesia by globus pallidus internus pallidal stimulation. ( 16267844 )
2006
17
Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. ( 16717228 )
2006
18
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. ( 15824259 )
2005
19
Sublingual lorazepam in the treatment of familial paroxysmal nonkinesigenic dyskinesia. ( 15165643 )
2004
20
Chronic thalamic stimulation for treatment of dystonic paroxysmal nonkinesigenic dyskinesia. ( 11160971 )
2001
21
Familial Paroxysmal Nonkinesigenic Dyskinesia ( 20301400 )
1993

Variations for Familial Paroxysmal Nonkinesigenic Dyskinesia

ClinVar genetic disease variations for Familial Paroxysmal Nonkinesigenic Dyskinesia:

6
(show top 50) (show all 182)
# Gene Variation Type Significance SNP ID Assembly Location
1 PNKD NM_015488.4(PNKD): c.26C> T (p.Ala9Val) single nucleotide variant Pathogenic rs121434511 GRCh37 Chromosome 2, 219135284: 219135284
2 PNKD NM_015488.4(PNKD): c.26C> T (p.Ala9Val) single nucleotide variant Pathogenic rs121434511 GRCh38 Chromosome 2, 218270561: 218270561
3 PNKD NM_015488.4(PNKD): c.20C> T (p.Ala7Val) single nucleotide variant Pathogenic rs121434512 GRCh37 Chromosome 2, 219135278: 219135278
4 PNKD NM_015488.4(PNKD): c.20C> T (p.Ala7Val) single nucleotide variant Pathogenic rs121434512 GRCh38 Chromosome 2, 218270555: 218270555
5 PNKD NM_015488.4(PNKD): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance rs878855015 GRCh37 Chromosome 2, 219135323: 219135323
6 PNKD NM_015488.4(PNKD): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance rs878855015 GRCh38 Chromosome 2, 218270600: 218270600
7 PNKD NM_015488.4(PNKD): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs149750691 GRCh37 Chromosome 2, 219209282: 219209282
8 PNKD NM_015488.4(PNKD): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs149750691 GRCh38 Chromosome 2, 218344559: 218344559
9 PNKD NM_015488.4(PNKD): c.486G> A (p.Gly162=) single nucleotide variant Benign rs34014804 GRCh37 Chromosome 2, 219205471: 219205471
10 PNKD NM_015488.4(PNKD): c.486G> A (p.Gly162=) single nucleotide variant Benign rs34014804 GRCh38 Chromosome 2, 218340748: 218340748
11 PNKD NM_015488.4(PNKD): c.781+12C> T single nucleotide variant Likely benign rs370963150 GRCh37 Chromosome 2, 219206879: 219206879
12 PNKD NM_015488.4(PNKD): c.781+12C> T single nucleotide variant Likely benign rs370963150 GRCh38 Chromosome 2, 218342156: 218342156
13 PNKD NM_015488.4(PNKD): c.-105A> T single nucleotide variant Likely benign rs183319984 GRCh38 Chromosome 2, 218270431: 218270431
14 PNKD NM_015488.4(PNKD): c.-105A> T single nucleotide variant Likely benign rs183319984 GRCh37 Chromosome 2, 219135154: 219135154
15 PNKD NM_015488.4(PNKD): c.254G> A (p.Arg85His) single nucleotide variant Likely benign rs150402000 GRCh37 Chromosome 2, 219204523: 219204523
16 PNKD NM_015488.4(PNKD): c.254G> A (p.Arg85His) single nucleotide variant Likely benign rs150402000 GRCh38 Chromosome 2, 218339800: 218339800
17 PNKD NM_015488.4(PNKD): c.265G> A (p.Gly89Arg) single nucleotide variant Likely benign rs147259983 GRCh37 Chromosome 2, 219204534: 219204534
18 PNKD NM_015488.4(PNKD): c.265G> A (p.Gly89Arg) single nucleotide variant Likely benign rs147259983 GRCh38 Chromosome 2, 218339811: 218339811
19 PNKD NM_015488.4(PNKD): c.299C> T (p.Ala100Val) single nucleotide variant Uncertain significance rs374645683 GRCh37 Chromosome 2, 219204568: 219204568
20 PNKD NM_015488.4(PNKD): c.299C> T (p.Ala100Val) single nucleotide variant Uncertain significance rs374645683 GRCh38 Chromosome 2, 218339845: 218339845
21 PNKD NM_015488.4(PNKD): c.302G> A (p.Arg101Gln) single nucleotide variant Uncertain significance rs368934552 GRCh37 Chromosome 2, 219204571: 219204571
22 PNKD NM_015488.4(PNKD): c.302G> A (p.Arg101Gln) single nucleotide variant Uncertain significance rs368934552 GRCh38 Chromosome 2, 218339848: 218339848
23 PNKD NM_015488.4(PNKD): c.524+13C> T single nucleotide variant Likely benign rs150529046 GRCh37 Chromosome 2, 219205522: 219205522
24 PNKD NM_015488.4(PNKD): c.524+13C> T single nucleotide variant Likely benign rs150529046 GRCh38 Chromosome 2, 218340799: 218340799
25 PNKD NM_015488.4(PNKD): c.1140_1145delTATGCA (p.Met381_His382del) deletion Likely benign rs886055621 GRCh38 Chromosome 2, 218344963: 218344968
26 PNKD NM_015488.4(PNKD): c.1140_1145delTATGCA (p.Met381_His382del) deletion Likely benign rs886055621 GRCh37 Chromosome 2, 219209686: 219209691
27 PNKD NM_015488.4(PNKD): c.*92C> A single nucleotide variant Benign rs921970 GRCh38 Chromosome 2, 218345073: 218345073
28 PNKD NM_015488.4(PNKD): c.*92C> A single nucleotide variant Benign rs921970 GRCh37 Chromosome 2, 219209796: 219209796
29 PNKD NM_015488.4(PNKD): c.*181G> C single nucleotide variant Benign rs73088173 GRCh38 Chromosome 2, 218345162: 218345162
30 PNKD NM_015488.4(PNKD): c.*181G> C single nucleotide variant Benign rs73088173 GRCh37 Chromosome 2, 219209885: 219209885
31 PNKD NM_015488.4(PNKD): c.*206C> T single nucleotide variant Uncertain significance rs886055622 GRCh37 Chromosome 2, 219209910: 219209910
32 PNKD NM_015488.4(PNKD): c.*206C> T single nucleotide variant Uncertain significance rs886055622 GRCh38 Chromosome 2, 218345187: 218345187
33 PNKD NM_015488.4(PNKD): c.*451A> G single nucleotide variant Benign rs148230498 GRCh38 Chromosome 2, 218345432: 218345432
34 PNKD NM_015488.4(PNKD): c.*451A> G single nucleotide variant Benign rs148230498 GRCh37 Chromosome 2, 219210155: 219210155
35 PNKD NM_015488.4(PNKD): c.*607T> C single nucleotide variant Likely benign rs141201996 GRCh38 Chromosome 2, 218345588: 218345588
36 PNKD NM_015488.4(PNKD): c.*607T> C single nucleotide variant Likely benign rs141201996 GRCh37 Chromosome 2, 219210311: 219210311
37 PNKD NM_015488.4(PNKD): c.*826G> T single nucleotide variant Uncertain significance rs772338538 GRCh38 Chromosome 2, 218345807: 218345807
38 PNKD NM_015488.4(PNKD): c.*826G> T single nucleotide variant Uncertain significance rs772338538 GRCh37 Chromosome 2, 219210530: 219210530
39 PNKD NM_015488.4(PNKD): c.*1139C> G single nucleotide variant Likely benign rs547847157 GRCh38 Chromosome 2, 218346120: 218346120
40 PNKD NM_015488.4(PNKD): c.*1139C> G single nucleotide variant Likely benign rs547847157 GRCh37 Chromosome 2, 219210843: 219210843
41 PNKD NM_015488.4(PNKD): c.331A> G (p.Thr111Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs202190131 GRCh37 Chromosome 2, 219204600: 219204600
42 PNKD NM_015488.4(PNKD): c.331A> G (p.Thr111Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs202190131 GRCh38 Chromosome 2, 218339877: 218339877
43 PNKD NM_015488.4(PNKD): c.455G> A (p.Arg152Gln) single nucleotide variant Benign rs73990423 GRCh37 Chromosome 2, 219204854: 219204854
44 PNKD NM_015488.4(PNKD): c.455G> A (p.Arg152Gln) single nucleotide variant Benign rs73990423 GRCh38 Chromosome 2, 218340131: 218340131
45 PNKD NM_015488.4(PNKD): c.560G> A (p.Arg187Gln) single nucleotide variant Benign/Likely benign rs141506076 GRCh37 Chromosome 2, 219206292: 219206292
46 PNKD NM_015488.4(PNKD): c.560G> A (p.Arg187Gln) single nucleotide variant Benign/Likely benign rs141506076 GRCh38 Chromosome 2, 218341569: 218341569
47 PNKD NM_015488.4(PNKD): c.597C> T (p.Asp199=) single nucleotide variant Likely benign rs139122042 GRCh37 Chromosome 2, 219206329: 219206329
48 PNKD NM_015488.4(PNKD): c.597C> T (p.Asp199=) single nucleotide variant Likely benign rs139122042 GRCh38 Chromosome 2, 218341606: 218341606
49 PNKD NM_015488.4(PNKD): c.785G> A (p.Arg262Gln) single nucleotide variant Uncertain significance rs759669801 GRCh38 Chromosome 2, 218343503: 218343503
50 PNKD NM_015488.4(PNKD): c.785G> A (p.Arg262Gln) single nucleotide variant Uncertain significance rs759669801 GRCh37 Chromosome 2, 219208226: 219208226

Expression for Familial Paroxysmal Nonkinesigenic Dyskinesia

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

Pathways for Familial Paroxysmal Nonkinesigenic Dyskinesia

GO Terms for Familial Paroxysmal Nonkinesigenic Dyskinesia

Biological processes related to Familial Paroxysmal Nonkinesigenic Dyskinesia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling posture GO:0050884 8.62 PNKD PRRT2

Sources for Familial Paroxysmal Nonkinesigenic Dyskinesia

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74 UMLS via Orphanet
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