PDC
MCID: FML186
MIFTS: 39

Familial Paroxysmal Nonkinesigenic Dyskinesia (PDC)

Categories: Genetic diseases, Muscle 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 43
Paroxysmal Non-Kinesigenic Dyskinesia 58 29 6
Paroxysmal Nonkinesigenic Dyskinesia 25 43 71
Paroxysmal Dystonic Choreoathetosis 25 43
Nonkinesigenic Choreoathetosis 43 6
Pnkd 25 43
Paroxystic Non-Kinesigenic Choreoathetosis 58
Dyskinesia, Nonkinesigenic, Paroxysmal 39
Familial Paroxysmal Choreoathetosis 43
Mount-Reback Syndrome 43
Pdc 43

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:

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: 58  
Rare neurological diseases


External Ids:

MESH via Orphanet 45 C537181
ICD10 via Orphanet 33 G24.8
UMLS via Orphanet 72 C1869117
Orphanet 58 ORPHA98810
UMLS 71 C1869117

Summaries for Familial Paroxysmal Nonkinesigenic Dyskinesia

MedlinePlus Genetics : 43 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 paroxysmal nonkinesigenic dyskinesia 1 and episodic kinesigenic dyskinesia 2, 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 globus pallidus and spinal cord, and related phenotypes are paroxysmal dyskinesia and choreoathetosis

Wikipedia : 74 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 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 162)
# Related Disease Score Top Affiliating Genes
1 paroxysmal nonkinesigenic dyskinesia 1 31.9 PRRT2 PNKD BRCA2
2 episodic kinesigenic dyskinesia 2 31.1 PRRT2 PNKD
3 spasmodic dystonia 31.1 PRRT2 PNKD
4 dystonia, dopa-responsive 31.0 PRRT2 PNKD
5 episodic ataxia, type 2 31.0 PRRT2 PNKD
6 episodic ataxia 31.0 PRRT2 PNKD
7 benign familial infantile epilepsy 31.0 PRRT2 PNKD
8 alternating hemiplegia of childhood 30.9 PRRT2 PNKD
9 benign epilepsy with centrotemporal spikes 30.8 PRRT2 PNKD
10 choreatic disease 30.2 PRRT2 PNKD
11 paroxysmal dyskinesia 30.2 PRRT2 PNKD
12 episodic kinesigenic dyskinesia 1 30.0 PRRT2 PNKD
13 movement disease 29.9 PRRT2 PNKD
14 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 11.8
15 paroxysmal nonkinesigenic dyskinesia 2 11.7
16 pyruvate dehydrogenase e1-alpha deficiency 11.5
17 convulsions, familial infantile, with paroxysmal choreoathetosis 11.4
18 paroxysomal nonkinesigenic dyskinesia 11.3
19 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.2
20 retinitis pigmentosa 11.2
21 dihydrolipoamide dehydrogenase deficiency 11.1
22 amyotrophic lateral sclerosis 1 11.1
23 usher syndrome 11.0
24 tic disorder 11.0
25 cone-rod dystrophy 2 11.0
26 hemiplegia 11.0
27 respiratory allergy 10.9
28 pollen allergy 10.9
29 timothy grass allergy 10.9
30 fruit allergy 10.9
31 apple allergy 10.9
32 orange allergy 10.9
33 melon allergy 10.9
34 peach allergy 10.9
35 tomato allergy 10.9
36 fish allergy 10.9
37 legume allergy 10.9
38 nasal cavity disease 10.9
39 nose disease 10.9
40 dystonia 11, myoclonic 10.8
41 episodic ataxia, type 1 10.8
42 halothane hepatitis 10.8
43 dystonia 3, torsion, x-linked 10.8
44 focal dystonia 10.8
45 segmental dystonia 10.8
46 hemidystonia 10.8
47 primary biliary cholangitis 10.5
48 paroxysmal choreoathetosis 10.5
49 liver cirrhosis 10.5
50 parkinsonism 10.5

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 15)
# 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 58 31 frequent (33%) Frequent (79-30%) 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 trismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000211
9 torticollis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000473
10 rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002063
11 generalized muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003324
12 staring gaze 58 31 occasional (7.5%) Occasional (29-5%) HP:0025401
13 chorea 58 Frequent (79-30%)
14 involuntary movements 58 Frequent (79-30%)
15 dystonia 58 Very frequent (99-80%)

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
Globus Pallidus, Spinal Cord

Publications for Familial Paroxysmal Nonkinesigenic Dyskinesia

Articles related to Familial Paroxysmal Nonkinesigenic Dyskinesia:

(show top 50) (show all 57)
# Title Authors PMID Year
1
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. 61 6 25
15496428 2004
2
Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. 25 6
16216955 2005
3
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. 25 6
15262732 2004
4
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. 6 61
19124534 2009
5
The clinical and genetic heterogeneity of paroxysmal dyskinesias. 61 25
26598494 2015
6
Fatal paroxysmal non-kinesigenic dyskinesia. 61 25
25572910 2015
7
Familial paroxysmal nonkinesigenic dyskinesia: clinical and genetic analysis of a Taiwanese family. 61 25
22967746 2012
8
Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families. 61 25
21962874 2012
9
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. 61 25
21487022 2011
10
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. 6
15824259 2005
11
Paroxysmal non-kinesigenic dyskinesia in antiphospholipid syndrome. 61 25
15390045 2005
12
Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. 6
9490305 1998
13
Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. 6
8659518 1996
14
Unravelling of the paroxysmal dyskinesias. 25
30242089 2019
15
The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies. 25
28090678 2017
16
Timing, rates and spectra of human germline mutation. 25
26656846 2016
17
Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis. 25
25730884 2015
18
Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. 25
24963779 2014
19
A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues. 25
19589464 2009
20
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. 25
17515540 2007
21
Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. 25
16972263 2006
22
Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. 25
15629959 2005
23
Familial (idiopathic) paroxysmal dyskinesias: an update. 25
11346027 2001
24
The paroxysmal dyskinesias. 25
10323309 1999
25
Gabapentin for familial paroxysmal dystonic choreoathetosis. 25
9371936 1997
26
Paroxysmal dyskinesias: clinical features and classification. 25
7574453 1995
27
Treatment of Paroxysmal Dyskinesia. 61
32279719 2020
28
A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review. 61
33584489 2020
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
Paroxysmal non-kinesigenic dyskinesia due to spinal cord infiltration of low-grade B cell non-Hodgkin's lymphoma. 61
21626000 2012
40
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
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
Familial Paroxysmal Nonkinesigenic Dyskinesia 61
20301400 2005
49
Sublingual lorazepam in the treatment of familial paroxysmal nonkinesigenic dyskinesia. 61
15165643 2004
50
Moyamoya-induced paroxysmal dyskinesia. 61
14502675 2003

Variations for Familial Paroxysmal Nonkinesigenic Dyskinesia

ClinVar genetic disease variations for Familial Paroxysmal Nonkinesigenic Dyskinesia:

6 (show top 50) (show all 208)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PNKD NM_015488.5(PNKD):c.97G>C (p.Ala33Pro) SNV Pathogenic 1894 rs121434513 2:219136133-219136133 2:218271410-218271410
2 PNKD NM_015488.5(PNKD):c.26C>T (p.Ala9Val) SNV Pathogenic 1892 rs121434511 2:219135284-219135284 2:218270561-218270561
3 PNKD NM_015488.5(PNKD):c.20C>T (p.Ala7Val) SNV Pathogenic 1893 rs121434512 2:219135278-219135278 2:218270555-218270555
4 PRRT2 NM_145239.3(PRRT2):c.649dup (p.Arg217fs) Duplication Pathogenic 65758 16:29825015-29825016 16:29813694-29813695
5 BRCA2 NM_000059.4(BRCA2):c.4548del (p.Glu1518fs) Deletion Likely pathogenic 976078 13:32913040-32913040 13:32338903-32338903
6 PNKD NM_015488.5(PNKD):c.20C>T (p.Ala7Val) SNV Conflicting interpretations of pathogenicity 1893 rs121434512 2:219135278-219135278 2:218270555-218270555
7 CATIP-AS2 NM_015488.5(PNKD):c.299C>T (p.Ala100Val) SNV Conflicting interpretations of pathogenicity 334311 rs374645683 2:219204568-219204568 2:218339845-218339845
8 CATIP-AS2 NM_015488.5(PNKD):c.*838C>T SNV Uncertain significance 334341 rs560187472 2:219210542-219210542 2:218345819-218345819
9 CATIP-AS2 NM_015488.5(PNKD):c.628C>A (p.His210Asn) SNV Uncertain significance 334322 rs886055620 2:219206714-219206714 2:218341991-218341991
10 PNKD NM_015488.4(PNKD):c.-65G>A SNV Uncertain significance 334306 rs570619432 2:219135194-219135194 2:218270471-218270471
11 CATIP-AS2 NM_015488.5(PNKD):c.915G>C (p.Glu305Asp) SNV Uncertain significance 409641 rs201068431 2:219209224-219209224 2:218344501-218344501
12 CATIP-AS2 NM_015488.5(PNKD):c.383C>T (p.Ser128Leu) SNV Uncertain significance 468630 rs200782799 2:219204782-219204782 2:218340059-218340059
13 PNKD NM_015488.5(PNKD):c.47G>T (p.Arg16Ile) SNV Uncertain significance 468632 rs1553654496 2:219135305-219135305 2:218270582-218270582
14 CATIP-AS2 NM_015488.5(PNKD):c.454C>T (p.Arg152Trp) SNV Uncertain significance 468631 rs756863425 2:219204853-219204853 2:218340130-218340130
15 CATIP-AS2 NM_015488.5(PNKD):c.526G>A (p.Asp176Asn) SNV Uncertain significance 468633 rs1553674143 2:219206258-219206258 2:218341535-218341535
16 PNKD NM_015488.5(PNKD):c.233C>T (p.Ala78Val) SNV Uncertain significance 468625 rs1201792156 2:219136269-219136269 2:218271546-218271546
17 CATIP-AS2 NM_015488.5(PNKD):c.1102C>G (p.Arg368Gly) SNV Uncertain significance 468623 rs185906233 2:219209648-219209648 2:218344925-218344925
18 CATIP-AS2 NM_015488.5(PNKD):c.559C>T (p.Arg187Trp) SNV Uncertain significance 468634 rs375550686 2:219206291-219206291 2:218341568-218341568
19 CATIP-AS2 NM_015488.5(PNKD):c.1067C>T (p.Pro356Leu) SNV Uncertain significance 468622 rs1553516179 2:219209613-219209613 2:218344890-218344890
20 CATIP-AS2 NM_015488.5(PNKD):c.557G>A (p.Arg186Gln) SNV Uncertain significance 536497 rs143162613 2:219206289-219206289 2:218341566-218341566
21 CATIP-AS2 NM_015488.5(PNKD):c.1126C>T (p.Arg376Cys) SNV Uncertain significance 536498 rs200042352 2:219209672-219209672 2:218344949-218344949
22 CATIP-AS2 NM_015488.5(PNKD):c.773C>T (p.Ser258Phe) SNV Uncertain significance 536499 rs777714592 2:219206859-219206859 2:218342136-218342136
23 CATIP-AS2 NM_015488.5(PNKD):c.499G>A (p.Ala167Thr) SNV Uncertain significance 432515 rs1219443955 2:219205484-219205484 2:218340761-218340761
24 CATIP-AS2 NM_015488.5(PNKD):c.476A>T (p.Glu159Val) SNV Uncertain significance 334318 rs758928375 2:219205461-219205461 2:218340738-218340738
25 CATIP-AS2 NM_015488.5(PNKD):c.302G>A (p.Arg101Gln) SNV Uncertain significance 334312 rs368934552 2:219204571-219204571 2:218339848-218339848
26 CATIP-AS2 NM_015488.5(PNKD):c.973C>T (p.Arg325Cys) SNV Uncertain significance 241062 rs149750691 2:219209282-219209282 2:218344559-218344559
27 PNKD NM_015488.5(PNKD):c.65G>A (p.Arg22Gln) SNV Uncertain significance 241061 rs878855015 2:219135323-219135323 2:218270600-218270600
28 CATIP-AS2 NM_015488.5(PNKD):c.*1476A>G SNV Uncertain significance 334350 rs886055623 2:219211180-219211180 2:218346457-218346457
29 PNKD NM_015488.5(PNKD):c.2T>G (p.Met1Arg) SNV Uncertain significance 334307 rs775653461 2:219135260-219135260 2:218270537-218270537
30 CATIP-AS2 NM_015488.5(PNKD):c.*206C>T SNV Uncertain significance 334334 rs886055622 2:219209910-219209910 2:218345187-218345187
31 CATIP-AS2 NM_015488.5(PNKD):c.597C>T (p.Asp199=) SNV Uncertain significance 334321 rs139122042 2:219206329-219206329 2:218341606-218341606
32 PNKD NM_015488.4(PNKD):c.-79C>A SNV Uncertain significance 334305 rs886055618 2:219135180-219135180 2:218270457-218270457
33 CATIP-AS2 NM_015488.5(PNKD):c.*1118T>A SNV Uncertain significance 334346 rs762512024 2:219210822-219210822 2:218346099-218346099
34 CATIP-AS2 NM_015488.5(PNKD):c.*826G>T SNV Uncertain significance 334340 rs772338538 2:219210530-219210530 2:218345807-218345807
35 PNKD NM_015488.5(PNKD):c.37C>T (p.Arg13Trp) SNV Uncertain significance 334308 rs886055619 2:219135295-219135295 2:218270572-218270572
36 CATIP-AS2 NM_015488.5(PNKD):c.958C>T (p.Arg320Trp) SNV Uncertain significance 848089 2:219209267-219209267 2:218344544-218344544
37 CATIP-AS2 NM_015488.5(PNKD):c.839G>A (p.Gly280Glu) SNV Uncertain significance 851808 2:219208280-219208280 2:218343557-218343557
38 CATIP-AS2 NM_015488.5(PNKD):c.955C>T (p.Gln319Ter) SNV Uncertain significance 853926 2:219209264-219209264 2:218344541-218344541
39 CATIP-AS2 NM_015488.5(PNKD):c.348C>G (p.Phe116Leu) SNV Uncertain significance 855050 2:219204617-219204617 2:218339894-218339894
40 PNKD NM_015488.5(PNKD):c.8C>T (p.Ala3Val) SNV Uncertain significance 856769 2:219135266-219135266 2:218270543-218270543
41 CATIP-AS2 NM_015488.5(PNKD):c.536G>T (p.Gly179Val) SNV Uncertain significance 859058 2:219206268-219206268 2:218341545-218341545
42 CATIP-AS2 NM_015488.5(PNKD):c.985-1G>C SNV Uncertain significance 863116 2:219209530-219209530 2:218344807-218344807
43 CATIP-AS2 NM_015488.5(PNKD):c.341G>A (p.Arg114His) SNV Uncertain significance 895492 2:219204610-219204610 2:218339887-218339887
44 CATIP-AS2 NM_015488.5(PNKD):c.368C>T (p.Pro123Leu) SNV Uncertain significance 895493 2:219204767-219204767 2:218340044-218340044
45 CATIP-AS2 NM_015488.5(PNKD):c.*679C>T SNV Uncertain significance 895570 2:219210383-219210383 2:218345660-218345660
46 CATIP-AS2 NM_015488.5(PNKD):c.*868T>C SNV Uncertain significance 895571 2:219210572-219210572 2:218345849-218345849
47 PNKD NM_015488.5(PNKD):c.237-16374C>T SNV Uncertain significance 522936 rs201323830 2:219188132-219188132 2:218323409-218323409
48 PNKD NM_015488.5(PNKD):c.16G>A (p.Ala6Thr) SNV Uncertain significance 536495 rs1023163176 2:219135274-219135274 2:218270551-218270551
49 PNKD NC_000002.12:g.(?_218339763)_(218345001_?)del Deletion Uncertain significance 830738 2:219204486-219209724
50 CATIP-AS2 NM_015488.5(PNKD):c.984G>A (p.Thr328=) SNV Uncertain significance 834117 2:219209293-219209293 2:218344570-218344570

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
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....