DYT8
MCID: PRX088
MIFTS: 29

Paroxysmal Nonkinesigenic Dyskinesia 1 (DYT8)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Paroxysmal Nonkinesigenic Dyskinesia 1

MalaCards integrated aliases for Paroxysmal Nonkinesigenic Dyskinesia 1:

Name: Paroxysmal Nonkinesigenic Dyskinesia 1 57 12 75
Paroxysmal Dystonic Choreoathetosis 57 76 75
Mount-Reback Syndrome 57 75
Dystonia 8 57 75
Pnkd1 57 75
Fpd1 57 75
Dyt8 57 75
Pdc 57 75
Dyskinesia, Nonkinesigenic, Paroxysmal, Type 1 40
Choreoathetosis, Familial Paroxysmal; Fpd1 57
Paroxysmal Dystonic Choreoathetosis; Pdc 57
Choreoathetosis, Familial Paroxysmal 57
Paroxysmal Nonkinesigenic Dyskinesia 73
Choreoathetosis Familial Paroxysmal 76
Familial Paroxysmal Choreoathetosis 75
Choreoathetosis, Nonkinesigenic 57
Choreoathetosis Nonkinesigenic 75
Dystonia 8; Dyt8 57
Dystonia-8 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or childhood
symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation
frequency and severity of symptoms do not worsen with age
clonazepam and diazepam may be effective in preventing or lessening severity


HPO:

32
paroxysmal nonkinesigenic dyskinesia 1:
Onset and clinical course infantile onset childhood onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paroxysmal Nonkinesigenic Dyskinesia 1

UniProtKB/Swiss-Prot : 75 Dystonia 8: A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face.

MalaCards based summary : Paroxysmal Nonkinesigenic Dyskinesia 1, also known as paroxysmal dystonic choreoathetosis, is related to pyruvate dehydrogenase e1-alpha deficiency and retinitis pigmentosa, and has symptoms including torticollis, dystonia, paroxysmal and myokymia. An important gene associated with Paroxysmal Nonkinesigenic Dyskinesia 1 is PNKD (Paroxysmal Nonkinesigenic Dyskinesia). Related phenotypes are dysarthria and dysphagia

Disease Ontology : 12 A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in heterozygous mutation in the MR1 gene on chromosome 2q35.

Wikipedia : 76 Paroxysmal Nonkinesigenic Dyskinesia (PNKD) is an episodic movement disorder first described by Mount... more...

Description from OMIM: 118800

Related Diseases for Paroxysmal Nonkinesigenic Dyskinesia 1

Diseases in the Familial Paroxysmal Nonkinesigenic Dyskinesia family:

Paroxysmal Nonkinesigenic Dyskinesia 1 Paroxysmal Nonkinesigenic Dyskinesia 2

Diseases related to Paroxysmal Nonkinesigenic Dyskinesia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pyruvate dehydrogenase e1-alpha deficiency 11.8
2 retinitis pigmentosa 11.5
3 familial paroxysmal nonkinesigenic dyskinesia 11.5
4 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.4
5 dihydrolipoamide dehydrogenase deficiency 11.1
6 paroxysmal choreoathetosis 10.0

Graphical network of the top 20 diseases related to Paroxysmal Nonkinesigenic Dyskinesia 1:



Diseases related to Paroxysmal Nonkinesigenic Dyskinesia 1

Symptoms & Phenotypes for Paroxysmal Nonkinesigenic Dyskinesia 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
dysphagia
myokymia
dystonia, episodic
choreoathetosis, episodic
more
Head And Neck Face:
facial grimacing

Head And Neck Neck:
torticollis


Clinical features from OMIM:

118800

Human phenotypes related to Paroxysmal Nonkinesigenic Dyskinesia 1:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 dysphagia 32 HP:0002015
3 paroxysmal dystonia 32 HP:0002268
4 torticollis 32 HP:0000473
5 myokymia 32 HP:0002411
6 facial grimacing 32 HP:0000273
7 paroxysmal choreoathetosis 32 HP:0007098

UMLS symptoms related to Paroxysmal Nonkinesigenic Dyskinesia 1:


torticollis, dystonia, paroxysmal, myokymia

GenomeRNAi Phenotypes related to Paroxysmal Nonkinesigenic Dyskinesia 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 MR1 PNKD
2 Decreased shRNA abundance GR00251-A-2 9.23 MR1 PNKD

Drugs & Therapeutics for Paroxysmal Nonkinesigenic Dyskinesia 1

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 Paroxysmal Nonkinesigenic Dyskinesia 1

Genetic Tests for Paroxysmal Nonkinesigenic Dyskinesia 1

Anatomical Context for Paroxysmal Nonkinesigenic Dyskinesia 1

Publications for Paroxysmal Nonkinesigenic Dyskinesia 1

Articles related to Paroxysmal Nonkinesigenic Dyskinesia 1:

# Title Authors Year
1
Paroxysmal dystonic choreoathetosis with symptomatic seizures secondary to hypoglycemia caused by insulinoma. ( 22346027 )
2011
2
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. ( 15262732 )
2004
3
Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. ( 9490305 )
1998
4
Paroxysmal dystonic choreoathetosis linked to chromosome 2q: clinical analysis and proposed pathophysiology. ( 9222187 )
1997
5
[A Japanese family with paroxysmal dystonic choreoathetosis]. ( 9490902 )
1997
6
Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. ( 8659518 )
1996

Variations for Paroxysmal Nonkinesigenic Dyskinesia 1

UniProtKB/Swiss-Prot genetic disease variations for Paroxysmal Nonkinesigenic Dyskinesia 1:

75
# Symbol AA change Variation ID SNP ID
1 PNKD p.Ala7Val VAR_034844 rs121434512
2 PNKD p.Ala9Val VAR_034845 rs121434511

ClinVar genetic disease variations for Paroxysmal Nonkinesigenic Dyskinesia 1:

6
(show top 50) (show all 182)
# 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.26C> T (p.Ala9Val) single nucleotide variant Pathogenic rs121434511 GRCh38 Chromosome 2, 218270561: 218270561
3 PNKD NM_015488.4(PNKD): c.20C> T (p.Ala7Val) single nucleotide variant Pathogenic rs121434512 GRCh37 Chromosome 2, 219135278: 219135278
4 PNKD NM_015488.4(PNKD): c.20C> T (p.Ala7Val) single nucleotide variant Pathogenic rs121434512 GRCh38 Chromosome 2, 218270555: 218270555
5 PNKD NM_015488.4(PNKD): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance rs878855015 GRCh37 Chromosome 2, 219135323: 219135323
6 PNKD NM_015488.4(PNKD): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance rs878855015 GRCh38 Chromosome 2, 218270600: 218270600
7 PNKD NM_015488.4(PNKD): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs149750691 GRCh37 Chromosome 2, 219209282: 219209282
8 PNKD NM_015488.4(PNKD): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs149750691 GRCh38 Chromosome 2, 218344559: 218344559
9 PNKD NM_015488.4(PNKD): c.486G> A (p.Gly162=) single nucleotide variant Benign rs34014804 GRCh37 Chromosome 2, 219205471: 219205471
10 PNKD NM_015488.4(PNKD): c.486G> A (p.Gly162=) single nucleotide variant Benign rs34014804 GRCh38 Chromosome 2, 218340748: 218340748
11 PNKD NM_015488.4(PNKD): c.781+12C> T single nucleotide variant Likely benign rs370963150 GRCh37 Chromosome 2, 219206879: 219206879
12 PNKD NM_015488.4(PNKD): c.781+12C> T single nucleotide variant Likely benign rs370963150 GRCh38 Chromosome 2, 218342156: 218342156
13 PNKD NM_015488.4(PNKD): c.-105A> T single nucleotide variant Likely benign rs183319984 GRCh38 Chromosome 2, 218270431: 218270431
14 PNKD NM_015488.4(PNKD): c.-105A> T single nucleotide variant Likely benign rs183319984 GRCh37 Chromosome 2, 219135154: 219135154
15 PNKD NM_015488.4(PNKD): c.254G> A (p.Arg85His) single nucleotide variant Likely benign rs150402000 GRCh37 Chromosome 2, 219204523: 219204523
16 PNKD NM_015488.4(PNKD): c.254G> A (p.Arg85His) single nucleotide variant Likely benign rs150402000 GRCh38 Chromosome 2, 218339800: 218339800
17 PNKD NM_015488.4(PNKD): c.265G> A (p.Gly89Arg) single nucleotide variant Likely benign rs147259983 GRCh37 Chromosome 2, 219204534: 219204534
18 PNKD NM_015488.4(PNKD): c.265G> A (p.Gly89Arg) single nucleotide variant Likely benign rs147259983 GRCh38 Chromosome 2, 218339811: 218339811
19 PNKD NM_015488.4(PNKD): c.299C> T (p.Ala100Val) single nucleotide variant Uncertain significance rs374645683 GRCh37 Chromosome 2, 219204568: 219204568
20 PNKD NM_015488.4(PNKD): c.299C> T (p.Ala100Val) single nucleotide variant Uncertain significance rs374645683 GRCh38 Chromosome 2, 218339845: 218339845
21 PNKD NM_015488.4(PNKD): c.302G> A (p.Arg101Gln) single nucleotide variant Uncertain significance rs368934552 GRCh37 Chromosome 2, 219204571: 219204571
22 PNKD NM_015488.4(PNKD): c.302G> A (p.Arg101Gln) single nucleotide variant Uncertain significance rs368934552 GRCh38 Chromosome 2, 218339848: 218339848
23 PNKD NM_015488.4(PNKD): c.524+13C> T single nucleotide variant Likely benign rs150529046 GRCh37 Chromosome 2, 219205522: 219205522
24 PNKD NM_015488.4(PNKD): c.524+13C> T single nucleotide variant Likely benign rs150529046 GRCh38 Chromosome 2, 218340799: 218340799
25 PNKD NM_015488.4(PNKD): c.1140_1145delTATGCA (p.Met381_His382del) deletion Likely benign rs886055621 GRCh38 Chromosome 2, 218344963: 218344968
26 PNKD NM_015488.4(PNKD): c.1140_1145delTATGCA (p.Met381_His382del) deletion Likely benign rs886055621 GRCh37 Chromosome 2, 219209686: 219209691
27 PNKD NM_015488.4(PNKD): c.*92C> A single nucleotide variant Benign rs921970 GRCh38 Chromosome 2, 218345073: 218345073
28 PNKD NM_015488.4(PNKD): c.*92C> A single nucleotide variant Benign rs921970 GRCh37 Chromosome 2, 219209796: 219209796
29 PNKD NM_015488.4(PNKD): c.*181G> C single nucleotide variant Benign rs73088173 GRCh38 Chromosome 2, 218345162: 218345162
30 PNKD NM_015488.4(PNKD): c.*181G> C single nucleotide variant Benign rs73088173 GRCh37 Chromosome 2, 219209885: 219209885
31 PNKD NM_015488.4(PNKD): c.*206C> T single nucleotide variant Uncertain significance rs886055622 GRCh37 Chromosome 2, 219209910: 219209910
32 PNKD NM_015488.4(PNKD): c.*206C> T single nucleotide variant Uncertain significance rs886055622 GRCh38 Chromosome 2, 218345187: 218345187
33 PNKD NM_015488.4(PNKD): c.*451A> G single nucleotide variant Benign rs148230498 GRCh38 Chromosome 2, 218345432: 218345432
34 PNKD NM_015488.4(PNKD): c.*451A> G single nucleotide variant Benign rs148230498 GRCh37 Chromosome 2, 219210155: 219210155
35 PNKD NM_015488.4(PNKD): c.*607T> C single nucleotide variant Likely benign rs141201996 GRCh38 Chromosome 2, 218345588: 218345588
36 PNKD NM_015488.4(PNKD): c.*607T> C single nucleotide variant Likely benign rs141201996 GRCh37 Chromosome 2, 219210311: 219210311
37 PNKD NM_015488.4(PNKD): c.*826G> T single nucleotide variant Uncertain significance rs772338538 GRCh38 Chromosome 2, 218345807: 218345807
38 PNKD NM_015488.4(PNKD): c.*826G> T single nucleotide variant Uncertain significance rs772338538 GRCh37 Chromosome 2, 219210530: 219210530
39 PNKD NM_015488.4(PNKD): c.*1139C> G single nucleotide variant Likely benign rs547847157 GRCh38 Chromosome 2, 218346120: 218346120
40 PNKD NM_015488.4(PNKD): c.*1139C> G single nucleotide variant Likely benign rs547847157 GRCh37 Chromosome 2, 219210843: 219210843
41 PNKD NM_015488.4(PNKD): c.331A> G (p.Thr111Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs202190131 GRCh37 Chromosome 2, 219204600: 219204600
42 PNKD NM_015488.4(PNKD): c.331A> G (p.Thr111Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs202190131 GRCh38 Chromosome 2, 218339877: 218339877
43 PNKD NM_015488.4(PNKD): c.455G> A (p.Arg152Gln) single nucleotide variant Benign rs73990423 GRCh37 Chromosome 2, 219204854: 219204854
44 PNKD NM_015488.4(PNKD): c.455G> A (p.Arg152Gln) single nucleotide variant Benign rs73990423 GRCh38 Chromosome 2, 218340131: 218340131
45 PNKD NM_015488.4(PNKD): c.560G> A (p.Arg187Gln) single nucleotide variant Benign/Likely benign rs141506076 GRCh37 Chromosome 2, 219206292: 219206292
46 PNKD NM_015488.4(PNKD): c.560G> A (p.Arg187Gln) single nucleotide variant Benign/Likely benign rs141506076 GRCh38 Chromosome 2, 218341569: 218341569
47 PNKD NM_015488.4(PNKD): c.597C> T (p.Asp199=) single nucleotide variant Likely benign rs139122042 GRCh37 Chromosome 2, 219206329: 219206329
48 PNKD NM_015488.4(PNKD): c.597C> T (p.Asp199=) single nucleotide variant Likely benign rs139122042 GRCh38 Chromosome 2, 218341606: 218341606
49 PNKD NM_015488.4(PNKD): c.785G> A (p.Arg262Gln) single nucleotide variant Uncertain significance rs759669801 GRCh38 Chromosome 2, 218343503: 218343503
50 PNKD NM_015488.4(PNKD): c.785G> A (p.Arg262Gln) single nucleotide variant Uncertain significance rs759669801 GRCh37 Chromosome 2, 219208226: 219208226

Expression for Paroxysmal Nonkinesigenic Dyskinesia 1

Search GEO for disease gene expression data for Paroxysmal Nonkinesigenic Dyskinesia 1.

Pathways for Paroxysmal Nonkinesigenic Dyskinesia 1

GO Terms for Paroxysmal Nonkinesigenic Dyskinesia 1

Sources for Paroxysmal Nonkinesigenic Dyskinesia 1

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