MCID: FML186
MIFTS: 24

Familial Paroxysmal Nonkinesigenic Dyskinesia

Categories: Neuronal diseases, Genetic 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
Paroxysmal Nonkinesigenic Dyskinesia 23 24 13 69
Paroxysmal Dystonic Choreoathetosis 23 24
Pnkd 23 24
Paroxystic Non-Kinesigenic Choreoathetosis 55
Paroxysmal Non-Kinesigenic Dyskinesia 55
Familial Paroxysmal Choreoathetosis 24
Nonkinesigenic Choreoathetosis 24
Mount-Reback Syndrome 24
Pdc 24

Characteristics:

Orphanet epidemiological data:

55
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: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA98810
MESH via Orphanet 42 C537181
UMLS via Orphanet 70 C1869117
ICD10 via Orphanet 33 G24.8
UMLS 69 C1869117

Summaries for Familial Paroxysmal Nonkinesigenic Dyskinesia

Genetics Home Reference : 24 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 retinitis pigmentosa, and has symptoms including myokymia, dystonia, paroxysmal and torticollis. An important gene associated with Familial Paroxysmal Nonkinesigenic Dyskinesia is PNKD (Paroxysmal Nonkinesigenic Dyskinesia).

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

UMLS symptoms related to Familial Paroxysmal Nonkinesigenic Dyskinesia:


myokymia, dystonia, paroxysmal, torticollis

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 Not yet 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

Publications for Familial Paroxysmal Nonkinesigenic Dyskinesia

Articles related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

# 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
# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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