MCID: FML186
MIFTS: 23

Familial Paroxysmal Nonkinesigenic Dyskinesia

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 23 24 25
Paroxysmal Nonkinesigenic Dyskinesia 23 24 25 13 69
Paroxysmal Dystonic Choreoathetosis 23 24 25
Pnkd 23 24 25
Paroxystic Non-Kinesigenic Choreoathetosis 56
Paroxysmal Non-Kinesigenic Dyskinesia 56
Familial Paroxysmal Choreoathetosis 25
Nonkinesigenic Choreoathetosis 25
Mount-Reback Syndrome 25
Pdc 25

Characteristics:

Orphanet epidemiological data:

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

GeneReviews:

23
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: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA98810
MESH via Orphanet 43 C537181
UMLS via Orphanet 70 C1869117
ICD10 via Orphanet 34 G24.8

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, 3, with or without generalized epilepsy and paroxysmal nonkinesigenic dyskinesia 2, and has symptoms including torticollis, dystonia, paroxysmal and myokymia. An important gene associated with Familial Paroxysmal Nonkinesigenic Dyskinesia is PNKD (Paroxysmal Nonkinesigenic Dyskinesia).

Wikipedia : 72 Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is an episodic movement disorder first described by Mount... more...

GeneReviews: NBK1221

Related Diseases for Familial Paroxysmal Nonkinesigenic Dyskinesia

Diseases in the Familial Paroxysmal Nonkinesigenic Dyskinesia family:

Paroxysmal Nonkinesigenic Dyskinesia 2 Paroxysmal Nonkinesigenic Dyskinesia 1

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

(show all 28)
id Related Disease Score Top Affiliating Genes
1 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 12.4
2 paroxysmal nonkinesigenic dyskinesia 2 12.2
3 retinitis pigmentosa 11.4
4 convulsions, familial infantile, with paroxysmal choreoathetosis 11.2
5 amyotrophic lateral sclerosis-parkinsonism/dementia complex 11.1
6 dihydrolipoamide dehydrogenase deficiency 11.0
7 hepatitis c virus 11.0
8 paroxysomal nonkinesigenic dyskinesia 11.0
9 dystonia 10.9
10 paroxysmal nonkinesigenic dyskinesia 1 10.8
11 dystonia, dopa-responsive, with or without hyperphenylalaninemia 10.8
12 episodic kinesigenic dyskinesia 2 10.8
13 multiple congenital anomalies-hypotonia-seizures syndrome 1 10.8
14 dystonia-parkinsonism, x-linked 10.8
15 dyskinetic cerebral palsy 10.8
16 hemidystonia 10.8
17 choreatic disease 10.8
18 benign epilepsy with centrotemporal spikes 10.8
19 paroxysmal choreoathetosis 10.7
20 graves' disease 10.1
21 psychogenic movement 10.1
22 tic disorder 9.8
23 free sialic acid storage disorders 9.6 PNKD PRRT2
24 bardet-biedl syndrome 2 9.6 PNKD PRRT2
25 postherpetic neuralgia 9.5 PNKD PRRT2
26 histrionic personality disorder 9.5 PNKD PRRT2
27 sjogren's syndrome 9.4 PNKD PRRT2
28 hyperphenylalaninemia, bh4-deficient, b 9.2 PNKD PRRT2

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

UMLS symptoms related to Familial Paroxysmal Nonkinesigenic Dyskinesia:


torticollis, dystonia, paroxysmal, myokymia

Drugs & Therapeutics for Familial Paroxysmal Nonkinesigenic Dyskinesia

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Transcranial Magnetic Stimulation (TMS) Studies of Dystonia Completed NCT00017875

Search NIH Clinical Center for Familial Paroxysmal Nonkinesigenic Dyskinesia

Genetic Tests for Familial Paroxysmal Nonkinesigenic Dyskinesia

Genetic tests related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

id Genetic test Affiliating Genes
1 Familial Paroxysmal Nonkinesigenic Dyskinesia 24 PNKD

Anatomical Context for Familial Paroxysmal Nonkinesigenic Dyskinesia

Publications for Familial Paroxysmal Nonkinesigenic Dyskinesia

Articles related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

id Title Authors Year
1
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. ( 25107857 )
2014
2
Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. ( 22967746 )
2012
3
Sublingual lorazepam in the treatment of familial paroxysmal nonkinesigenic dyskinesia. ( 15165643 )
2004
4
Familial Paroxysmal Nonkinesigenic Dyskinesia ( 20301400 )
1993

Variations for Familial Paroxysmal Nonkinesigenic Dyskinesia

ClinVar genetic disease variations for Familial Paroxysmal Nonkinesigenic Dyskinesia:

6
id 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.20C> T (p.Ala7Val) single nucleotide variant Pathogenic rs121434512 GRCh37 Chromosome 2, 219135278: 219135278
3 PNKD NM_015488.4(PNKD): c.97G> C (p.Ala33Pro) single nucleotide variant Pathogenic rs121434513 GRCh37 Chromosome 2, 219136133: 219136133

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:

id 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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