PDC
MCID: FML186
MIFTS: 36

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 Non-Kinesigenic Dyskinesia 58 29 6
Paroxysmal Nonkinesigenic Dyskinesia 24 25 71
Paroxysmal Dystonic Choreoathetosis 24 25
Pnkd 24 25
Paroxystic Non-Kinesigenic Choreoathetosis 58
Dyskinesia, Nonkinesigenic, Paroxysmal 39
Familial Paroxysmal Choreoathetosis 25
Nonkinesigenic Choreoathetosis 25
Mount-Reback Syndrome 25
Pdc 25

Characteristics:

Orphanet epidemiological data:

58
paroxysmal non-kinesigenic dyskinesia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy;

GeneReviews:

24
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: 58  
Rare neurological diseases


External Ids:

MESH via Orphanet 44 C537181
ICD10 via Orphanet 33 G24.8
UMLS via Orphanet 72 C1869117
Orphanet 58 ORPHA98810
UMLS 71 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. People with familial paroxysmal nonkinesigenic dyskinesia experience episodes of abnormal movement that are brought on by alcohol, caffeine, stress, fatigue, menses, or excitement or develop without a known cause. Episodes are not induced by exercise or sudden movement and do not occur during sleep. An episode is characterized by irregular, jerking or shaking movements that range from mild to severe. In this disorder, the dyskinesia can include slow, prolonged contraction of muscles (dystonia); small, fast, "dance-like" motions (chorea); writhing movements of the limbs (athetosis); and, rarely, flailing movements of the limbs (ballismus). The dyskinesia also affects muscles in the torso and face. The type of abnormal movement varies among affected individuals, even among affected members of the same family. Individuals with familial paroxysmal nonkinesigenic dyskinesia do not lose consciousness during an episode. Most people do not experience any neurological symptoms between episodes. Individuals with familial paroxysmal nonkinesigenic dyskinesia usually begin to show signs and symptoms of the disorder during childhood or their early teens. Episodes typically last 1 to 4 hours, and the frequency of episodes ranges from several per day to one per year. In some affected individuals, episodes occur less often with age.

MalaCards based summary : Familial Paroxysmal Nonkinesigenic Dyskinesia, also known as paroxysmal non-kinesigenic dyskinesia, is related to episodic kinesigenic dyskinesia 2 and reflex epilepsy, 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 kidney, t cells and globus pallidus, 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 177)
# Related Disease Score Top Affiliating Genes
1 episodic kinesigenic dyskinesia 2 31.1 PRRT2 PNKD
2 reflex epilepsy 31.1 PRRT2 PNKD
3 infancy electroclinical syndrome 31.0 PRRT2 PNKD
4 dystonia, dopa-responsive 31.0 PRRT2 PNKD
5 benign familial infantile epilepsy 30.9 PRRT2 PNKD
6 alternating hemiplegia of childhood 30.9 PRRT2 PNKD
7 episodic ataxia 30.9 PRRT2 PNKD
8 benign epilepsy with centrotemporal spikes 30.7 PRRT2 PNKD
9 childhood absence epilepsy 30.6 PRRT2 PNKD
10 migraine with or without aura 1 30.4 PRRT2 PNKD
11 dystonia 30.3 PRRT2 PNKD
12 choreatic disease 30.1 PRRT2 PNKD
13 paroxysmal nonkinesigenic dyskinesia 1 30.0 PRRT2 PNKD
14 paroxysmal dyskinesia 30.0 PRRT2 PNKD
15 episodic kinesigenic dyskinesia 1 29.8 PRRT2 PNKD
16 movement disease 29.7 PRRT2 PNKD
17 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 12.9
18 paroxysmal nonkinesigenic dyskinesia 2 12.8
19 pyruvate dehydrogenase e1-alpha deficiency 12.3
20 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.8
21 retinitis pigmentosa 11.8
22 convulsions, familial infantile, with paroxysmal choreoathetosis 11.7
23 amyotrophic lateral sclerosis 1 11.6
24 usher syndrome 11.6
25 paroxysomal nonkinesigenic dyskinesia 11.6
26 tic disorder 11.5
27 dihydrolipoamide dehydrogenase deficiency 11.4
28 hemiplegia 11.2
29 primary biliary cirrhosis 11.2
30 dermatitis, atopic 11.1
31 pollen allergy 11.1
32 timothy grass allergy 11.1
33 fruit allergy 11.1
34 apple allergy 11.1
35 orange allergy 11.1
36 melon allergy 11.1
37 tomato allergy 11.1
38 crab allergy 11.1
39 nasal cavity disease 11.1
40 episodic ataxia, type 2 11.0
41 dystonia 1, torsion, autosomal dominant 11.0
42 dystonia 11, myoclonic 11.0
43 episodic ataxia, type 1 11.0
44 halothane hepatitis 11.0
45 dystonia 3, torsion, x-linked 11.0
46 brody myopathy 11.0
47 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.0
48 spinocerebellar ataxia 27 11.0
49 dyskinetic cerebral palsy 11.0
50 multifocal dystonia 11.0

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:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 paroxysmal dyskinesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007166
2 choreoathetosis 58 31 frequent (33%) Frequent (79-30%) HP:0001266
3 hyperkinetic movements 31 frequent (33%) HP:0002487
4 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
5 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
6 dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100660
7 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
8 generalized muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003324
9 rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002063
10 trismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000211
11 torticollis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000473
12 staring gaze 58 31 occasional (7.5%) Occasional (29-5%) HP:0025401
13 chorea 58 Frequent (79-30%)
14 dystonia 58 Very frequent (99-80%)
15 involuntary movements 58 Frequent (79-30%)
16 hyperkinesis 58 Frequent (79-30%)

UMLS symptoms related to Familial Paroxysmal Nonkinesigenic Dyskinesia:


torticollis, myokymia, dystonia, paroxysmal

Drugs & Therapeutics for Familial Paroxysmal Nonkinesigenic Dyskinesia

Search Clinical Trials , 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 29

Anatomical Context for Familial Paroxysmal Nonkinesigenic Dyskinesia

MalaCards organs/tissues related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

40
Kidney, T Cells, Globus Pallidus, Spinal Cord, B Cells, Heart, Liver

Publications for Familial Paroxysmal Nonkinesigenic Dyskinesia

Articles related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

(show top 50) (show all 56)
# Title Authors PMID Year
1
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. 61 24 6
15496428 2004
2
Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. 24 6
16216955 2005
3
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. 24 6
15262732 2004
4
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. 61 6
19124534 2009
5
Familial Paroxysmal Nonkinesigenic Dyskinesia 61 6
20301400 2005
6
The clinical and genetic heterogeneity of paroxysmal dyskinesias. 61 24
26598494 2015
7
Fatal paroxysmal non-kinesigenic dyskinesia. 61 24
25572910 2015
8
Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. 61 24
22967746 2012
9
Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families. 61 24
21962874 2012
10
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. 61 24
21487022 2011
11
EFNS guidelines on diagnosis and treatment of primary dystonias. 6
20482602 2011
12
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. 6
15824259 2005
13
Paroxysmal non-kinesigenic dyskinesia in antiphospholipid syndrome. 61 24
15390045 2005
14
Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. 6
9490305 1998
15
Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. 6
8659518 1996
16
Unravelling of the paroxysmal dyskinesias. 24
30242089 2019
17
The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies. 24
28090678 2017
18
Timing, rates and spectra of human germline mutation. 24
26656846 2016
19
Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. 24
25730884 2015
20
Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. 24
24963779 2014
21
A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues. 24
19589464 2009
22
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. 24
17515540 2007
23
Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. 24
16972263 2006
24
Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. 24
15629959 2005
25
Familial (idiopathic) paroxysmal dyskinesias: an update. 24
11346027 2001
26
The paroxysmal dyskinesias. 24
10323309 1999
27
Gabapentin for familial paroxysmal dystonic choreoathetosis. 24
9371936 1997
28
Paroxysmal dyskinesias: clinical features and classification. 24
7574453 1995
29
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? 61
31801583 2019
30
RSM22, mtYsxC and PNKD-like proteins are required for mitochondrial translation in Trypanosoma brucei. 61
28089944 2017
31
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia. 61
27891564 2017
32
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. 61
27005424 2016
33
Paroxysmal non-kinesigenic dyskinesia, post-streptococcal syndromes and psychogenic movement disorders: a diagnostic challenge. 61
25795754 2015
34
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland. 61
25107857 2015
35
Re-evaluation of PRRT2 mutations in paroxysmal disorders. 61
24609974 2014
36
Late onset of atypical paroxysmal non-kinesigenic dyskinesia with remote history of Graves' disease. 61
24347956 2013
37
Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation. 61
22902309 2013
38
Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. 61
22515636 2012
39
Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia. 61
21600715 2012
40
Paroxysmal non-kinesigenic dyskinesia due to spinal cord infiltration of low-grade B cell non-Hodgkin's lymphoma. 61
21626000 2012
41
Extrapyramidal epilepsy. 61
21561840 2011
42
The paroxysmal dyskinesias. 61
19289562 2009
43
Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred. 61
18948699 2009
44
Effects of the kynurenine 3-hydroxylase inhibitor Ro 61-8048 after intrastriatal injections on the severity of dystonia in the dt sz mutant. 61
18353306 2008
45
Fahr's disease presenting with paroxysmal non-kinesigenic dyskinesia: a case report. 61
17240186 2008
46
Sporadic paroxysmal non-kinesigenic dyskinesia: a frequently-misdiagnosed movement disorder. 61
17728953 2007
47
Complete suppression of paroxysmal nonkinesigenic dyskinesia by globus pallidus internus pallidal stimulation. 61
16267844 2006
48
Sublingual lorazepam in the treatment of familial paroxysmal nonkinesigenic dyskinesia. 61
15165643 2004
49
Moyamoya-induced paroxysmal dyskinesia. 61
14502675 2003
50
Paroxysmal dyskinesias in childhood. 61
12770667 2003

Variations for Familial Paroxysmal Nonkinesigenic Dyskinesia

ClinVar genetic disease variations for Familial Paroxysmal Nonkinesigenic Dyskinesia:

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PNKD NM_015488.5(PNKD):c.331A>G (p.Thr111Ala)SNV Conflicting interpretations of pathogenicity 334313 rs202190131 2:219204600-219204600 2:218339877-218339877
2 PNKD NM_015488.5(PNKD):c.37C>T (p.Arg13Trp)SNV Uncertain significance 334308 rs886055619 2:219135295-219135295 2:218270572-218270572
3 PNKD NM_015488.5(PNKD):c.466-3C>ASNV Uncertain significance 334317 rs370929830 2:219205448-219205448 2:218340725-218340725
4 PNKD NM_015488.5(PNKD):c.323A>G (p.His108Arg)SNV Uncertain significance 377052 rs142536637 2:219204592-219204592 2:218339869-218339869
5 PNKD NM_015488.5(PNKD):c.1102C>G (p.Arg368Gly)SNV Uncertain significance 468623 rs185906233 2:219209648-219209648 2:218344925-218344925
6 PNKD NM_015488.5(PNKD):c.76_103del (p.Ala26fs)deletion Uncertain significance 468635 rs780123062 2:219136107-219136134 2:218271384-218271411
7 PNKD NM_015488.5(PNKD):c.1067C>T (p.Pro356Leu)SNV Uncertain significance 468622 rs1553516179 2:219209613-219209613 2:218344890-218344890
8 PNKD NM_015488.5(PNKD):c.716A>T (p.Asp239Val)SNV Uncertain significance 536500 rs1553674341 2:219206802-219206802 2:218342079-218342079
9 PNKD NM_015488.5(PNKD):c.998T>G (p.Leu333Arg)SNV Uncertain significance 580829 rs1005386085 2:219209544-219209544 2:218344821-218344821
10 PNKD NM_015488.5(PNKD):c.964C>T (p.Arg322Trp)SNV Uncertain significance 567976 rs751050132 2:219209273-219209273 2:218344550-218344550
11 PNKD NM_015488.5(PNKD):c.665G>A (p.Arg222Gln)SNV Uncertain significance 568390 rs777574834 2:219206751-219206751 2:218342028-218342028
12 PNKD NM_015488.5(PNKD):c.101C>G (p.Ser34Cys)SNV Uncertain significance 650642 2:219136137-219136137 2:218271414-218271414
13 PNKD NM_015488.5(PNKD):c.230T>C (p.Leu77Pro)SNV Uncertain significance 656211 2:219136266-219136266 2:218271543-218271543
14 PNKD NM_015488.5(PNKD):c.281G>A (p.Arg94Gln)SNV Uncertain significance 649687 2:219204550-219204550 2:218339827-218339827
15 PNKD NM_015488.5(PNKD):c.293G>T (p.Arg98Leu)SNV Uncertain significance 654532 2:219204562-219204562 2:218339839-218339839
16 PNKD NM_015488.5(PNKD):c.326C>T (p.Ser109Leu)SNV Uncertain significance 665073 2:219204595-219204595 2:218339872-218339872
17 PNKD NM_015488.5(PNKD):c.404T>C (p.Ile135Thr)SNV Uncertain significance 660281 2:219204803-219204803 2:218340080-218340080
18 PNKD NM_015488.5(PNKD):c.409G>A (p.Asp137Asn)SNV Uncertain significance 653927 2:219204808-219204808 2:218340085-218340085
19 PNKD NM_015488.5(PNKD):c.415C>T (p.Gln139Ter)SNV Uncertain significance 651066 2:219204814-219204814 2:218340091-218340091
20 PNKD NM_015488.5(PNKD):c.693del (p.Gly232fs)deletion Uncertain significance 662584 2:219206778-219206778 2:218342055-218342055
21 PNKD NM_015488.5(PNKD):c.698A>G (p.His233Arg)SNV Uncertain significance 644743 2:219206784-219206784 2:218342061-218342061
22 PNKD NM_015488.5(PNKD):c.983C>T (p.Thr328Met)SNV Uncertain significance 662064 2:219209292-219209292 2:218344569-218344569
23 PNKD NM_015488.5(PNKD):c.1148del (p.Lys383fs)deletion Uncertain significance 655463 2:219209693-219209693 2:218344970-218344970
24 PNKD NM_015488.5(PNKD):c.984+1G>ASNV Uncertain significance 666192 2:219209294-219209294 2:218344571-218344571

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 PRRT2 PNKD

Sources for Familial Paroxysmal Nonkinesigenic Dyskinesia

3 CDC
7 CNVD
9 Cosmic
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57 OMIM via Orphanet
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68 SNOMED-CT via HPO
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