PDC
MCID: FML186
MIFTS: 32

Familial Paroxysmal Nonkinesigenic Dyskinesia (PDC)

Categories: Genetic diseases, Neuronal diseases, Rare 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 episodic kinesigenic dyskinesia 2 and choreatic disease, and has symptoms including torticollis, myokymia and dystonia, paroxysmal. An important gene associated with Familial Paroxysmal Nonkinesigenic Dyskinesia is PNKD (PNKD, MBL Domain Containing). Affiliated tissues include brain and globus pallidus, and related phenotypes are neurological speech impairment and joint stiffness

GeneReviews: NBK1221

Related Diseases for Familial Paroxysmal Nonkinesigenic Dyskinesia

Diseases in the Familial Paroxysmal Nonkinesigenic Dyskinesia family:

Paroxysmal Nonkinesigenic Dyskinesia 1 Paroxysmal Nonkinesigenic Dyskinesia 2

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 episodic kinesigenic dyskinesia 2 31.4 PNKD PRRT2
2 choreatic disease 31.4 PNKD PRRT2
3 dystonia, dopa-responsive 31.3 PNKD PRRT2
4 benign epilepsy with centrotemporal spikes 31.2 PNKD PRRT2
5 migraine with or without aura 1 30.9 PNKD PRRT2
6 paroxysmal choreoathetosis 30.6 PNKD PRRT2
7 episodic kinesigenic dyskinesia 1 30.1 PNKD PRRT2
8 dystonia 30.0 PNKD PRRT2
9 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 12.7
10 paroxysmal nonkinesigenic dyskinesia 2 12.5
11 paroxysmal nonkinesigenic dyskinesia 1 12.1
12 pyruvate dehydrogenase e1-alpha deficiency 12.0
13 retinitis pigmentosa 11.6
14 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.5
15 convulsions, familial infantile, with paroxysmal choreoathetosis 11.5
16 paroxysomal nonkinesigenic dyskinesia 11.4
17 dihydrolipoamide dehydrogenase deficiency 11.3
18 hepatitis c virus 11.2
19 usher syndrome 11.2
20 episodic ataxia, type 2 11.1
21 episodic ataxia, type 1 11.1
22 halothane hepatitis 11.1
23 dystonia 3, torsion, x-linked 11.1
24 multiple congenital anomalies-hypotonia-seizures syndrome 1 11.1
25 dyskinetic cerebral palsy 11.1
26 hemidystonia 11.1
27 respiratory allergy 11.0
28 timothy grass allergy 11.0
29 peach allergy 11.0
30 tomato allergy 11.0
31 fish allergy 11.0
32 nasal cavity disease 11.0
33 nose disease 11.0
34 perrault syndrome 1 10.9
35 insulinoma 10.3
36 hypoparathyroidism 10.3
37 depression 10.3
38 tremor 10.3
39 graves' disease 10.3
40 movement disease 10.3
41 psychogenic movement 10.3
42 hypoglycemia 10.2
43 dementia 10.2
44 herpes simplex 10.2
45 amyotrophic lateral sclerosis 1 10.1
46 leber congenital amaurosis 4 10.1
47 lateral sclerosis 10.1
48 retinitis 10.1
49 genital herpes 10.1
50 viral infectious disease 10.1

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

UMLS symptoms related to Familial Paroxysmal Nonkinesigenic Dyskinesia:


torticollis, myokymia, dystonia, paroxysmal

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
Brain, Globus Pallidus

Publications for Familial Paroxysmal Nonkinesigenic Dyskinesia

Articles related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

(show all 21)
# Title Authors Year
1
A PDGFB mutation causes paroxysmal nonkinesigenic dyskinesia with brain calcification. ( 28556368 )
2017
2
Effective Treatment of Paroxysmal Nonkinesigenic Dyskinesia With Oxcarbazepine. ( 27046658 )
2016
3
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. ( 25107857 )
2014
4
Successful treatment of disabling paroxysmal nonkinesigenic dyskinesia with deep brain stimulation of the globus pallidus internus. ( 25359315 )
2014
5
Paroxysmal nonkinesigenic dyskinesia with tremor. ( 24171125 )
2013
6
Striatal infarct with paroxysmal nonkinesigenic dyskinesia. ( 22975836 )
2013
7
Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. ( 22967746 )
2012
8
Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. ( 22214848 )
2012
9
Bilateral deep brain stimulation for treatment of medically refractory paroxysmal nonkinesigenic dyskinesia. ( 19799495 )
2010
10
Paroxysmal nonkinesigenic dyskinesia with depression treated by bilateral electroconvulsive therapy. ( 20686148 )
2010
11
A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues. ( 19589464 )
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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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