MCID: FML186
MIFTS: 35

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 25 26
Paroxysmal Nonkinesigenic Dyskinesia 25 26 13 74
Paroxysmal Non-Kinesigenic Dyskinesia 60 30
Paroxysmal Dystonic Choreoathetosis 25 26
Pnkd 25 26
Paroxystic Non-Kinesigenic Choreoathetosis 60
Dyskinesia, Nonkinesigenic, Paroxysmal 41
Familial Paroxysmal Choreoathetosis 26
Nonkinesigenic Choreoathetosis 26
Mount-Reback Syndrome 26
Pdc 26

Characteristics:

Orphanet epidemiological data:

60
paroxysmal non-kinesigenic dyskinesia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;

GeneReviews:

25
Penetrance Bruno et al [2007] calculated the penetrance of familial 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: 60  
Rare neurological diseases


External Ids:

MESH via Orphanet 46 C537181
ICD10 via Orphanet 35 G24.8
UMLS via Orphanet 75 C1869117
Orphanet 60 ORPHA98810
UMLS 74 C1869117

Summaries for Familial Paroxysmal Nonkinesigenic Dyskinesia

Genetics Home Reference : 26 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 Metallo-Beta-Lactamase Domain Containing). Affiliated tissues include brain, globus pallidus and bone, and related phenotypes are paroxysmal dyskinesia and choreoathetosis

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 74)
# Related Disease Score Top Affiliating Genes
1 episodic kinesigenic dyskinesia 2 31.3 PNKD PRRT2
2 choreatic disease 31.2 PNKD PRRT2
3 dystonia, dopa-responsive 31.2 PNKD PRRT2
4 benign epilepsy with centrotemporal spikes 30.9 PNKD PRRT2
5 paroxysmal choreoathetosis 30.4 PNKD PRRT2
6 episodic kinesigenic dyskinesia 1 29.9 PNKD PRRT2
7 dystonia 29.7 PNKD PRRT2
8 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 12.8
9 paroxysmal nonkinesigenic dyskinesia 2 12.6
10 paroxysmal nonkinesigenic dyskinesia 1 12.2
11 pyruvate dehydrogenase e1-alpha deficiency 12.0
12 retinitis pigmentosa 11.7
13 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.6
14 convulsions, familial infantile, with paroxysmal choreoathetosis 11.5
15 tic disorder 11.5
16 paroxysomal nonkinesigenic dyskinesia 11.5
17 dihydrolipoamide dehydrogenase deficiency 11.3
18 hepatitis c virus 11.3
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 multiple congenital anomalies-hypotonia-seizures syndrome 11.1
28 respiratory allergy 11.1
29 timothy grass allergy 11.1
30 peach allergy 11.1
31 tomato allergy 11.1
32 nasal cavity disease 11.1
33 nose disease 11.1
34 migraine with or without aura 1 11.0
35 insulinoma 10.4
36 hypoparathyroidism 10.4
37 hypoglycemia 10.4
38 depression 10.3
39 tremor 10.3
40 graves' disease 10.3
41 antiphospholipid syndrome 10.3
42 movement disease 10.3
43 psychogenic movement 10.3
44 dementia 10.2
45 amyotrophic lateral sclerosis 1 10.2
46 lateral sclerosis 10.2
47 herpes simplex 10.2
48 colorectal cancer 10.1
49 inflammatory bowel disease 10.1
50 leber congenital amaurosis 4 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:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 paroxysmal dyskinesia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007166
2 choreoathetosis 60 33 frequent (33%) Frequent (79-30%) HP:0001266
3 hyperkinesis 60 33 frequent (33%) Frequent (79-30%) HP:0002487
4 neurological speech impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002167
5 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
6 dyskinesia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100660
7 dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002094
8 generalized muscle weakness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003324
9 rigidity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002063
10 trismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000211
11 torticollis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000473
12 staring gaze 60 33 occasional (7.5%) Occasional (29-5%) HP:0025401
13 chorea 60 Frequent (79-30%)
14 dystonia 60 Very frequent (99-80%)
15 involuntary movements 60 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

Genetic tests related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

# Genetic test Affiliating Genes
1 Paroxysmal Non-Kinesigenic Dyskinesia 30

Anatomical Context for Familial Paroxysmal Nonkinesigenic Dyskinesia

MalaCards organs/tissues related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

42
Brain, Globus Pallidus, Bone

Publications for Familial Paroxysmal Nonkinesigenic Dyskinesia

Articles related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

(show all 20)
# 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 )
2015
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
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. ( 17515540 )
2007
13
Levetiracetam-responding paroxysmal nonkinesigenic dyskinesia. ( 17762321 )
2007
14
Complete suppression of paroxysmal nonkinesigenic dyskinesia by globus pallidus internus pallidal stimulation. ( 16267844 )
2006
15
Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. ( 16632198 )
2006
16
Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. ( 16717228 )
2006
17
Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. ( 16972263 )
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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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