DYT8
MCID: PRX088
MIFTS: 33

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 6
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
Mountreback Syndrome 76
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, myokymia and dystonia, paroxysmal. An important gene associated with Paroxysmal Nonkinesigenic Dyskinesia 1 is PNKD (PNKD, MBL Domain Containing). 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:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 pyruvate dehydrogenase e1-alpha deficiency 12.0
2 retinitis pigmentosa 11.6
3 familial paroxysmal nonkinesigenic dyskinesia 11.6
4 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.5
5 dihydrolipoamide dehydrogenase deficiency 11.3
6 usher syndrome 11.2
7 respiratory allergy 11.0
8 timothy grass allergy 11.0
9 peach allergy 11.0
10 tomato allergy 11.0
11 fish allergy 11.0
12 nasal cavity disease 11.0
13 nose disease 11.0
14 insulinoma 10.3
15 hypoparathyroidism 10.3
16 episodic kinesigenic dyskinesia 1 10.2
17 dystonia 10.2
18 hypoglycemia 10.2
19 dementia 10.2
20 herpes simplex 10.2
21 amyotrophic lateral sclerosis 1 10.1
22 leber congenital amaurosis 4 10.1
23 lateral sclerosis 10.1
24 retinitis 10.1
25 genital herpes 10.1
26 viral infectious disease 10.1
27 epilepsy 10.0
28 paroxysmal choreoathetosis 10.0
29 seizure disorder 10.0
30 scleroderma, familial progressive 9.9
31 alopecia 9.9
32 hepatitis 9.9
33 intermittent claudication 9.9
34 ophthalmomyiasis 9.9
35 tooth agenesis 9.9
36 hepatitis a 9.9
37 vaccinia 9.9
38 human immunodeficiency virus infectious disease 9.9
39 influenza 9.9
40 oral cancer 9.9
41 optic perineuritis 9.9

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, myokymia, dystonia, paroxysmal

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:

(show all 29)
# 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
Post-streptococcal autoimmune neuropsychiatric disease presenting as paroxysmal dystonic choreoathetosis. ( 12210883 )
2002
4
Paroxysmal dystonic choreoathetosis: clinical features and investigation of pathophysiology in a large family. ( 10928574 )
2000
5
(+)-alpha-[11C]Dihydrotetrabenazine PET imaging in familial paroxysmal dystonic choreoathetosis. ( 10102431 )
1999
6
Gabapentin decreases the severity of dystonia at low doses in a genetic animal model of paroxysmal dystonic choreoathetosis. ( 10225372 )
1999
7
Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q. ( 10369313 )
1999
8
Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q. ( 10581498 )
1999
9
Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. ( 9490305 )
1998
10
Paroxysmal dystonic choreoathetosis linked to chromosome 2q: clinical analysis and proposed pathophysiology. ( 9222187 )
1997
11
[A Japanese family with paroxysmal dystonic choreoathetosis]. ( 9490902 )
1997
12
Gabapentin for familial paroxysmal dystonic choreoathetosis. ( 9371936 )
1997
13
Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family. ( 9448567 )
1997
14
Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. ( 8659518 )
1996
15
A case report of paroxysmal dystonic choreoathetosis due to hypoglycaemia induced by an insulinoma. ( 8708689 )
1996
16
Familial paroxysmal dystonic choreoathetosis revisited. ( 8723150 )
1996
17
Idiopathic hypoparathyroidism and paroxysmal dystonic choreoathetosis. ( 3271006 )
1988
18
Basal ganglion calcification in paroxysmal dystonic choreoathetosis. ( 3435075 )
1987
19
Familial paroxysmal dystonic choreoathetosis: a family study. ( 3504549 )
1987
20
Paroxysmal kinesigenic choreoathetosis and paroxysmal dystonic choreoathetosis in a patient with familial idiopathic hypoparathyroidism. ( 3576617 )
1987
21
Sporadic paroxysmal dystonic choreoathetosis associated with basal ganglia calcifications. ( 3813505 )
1986
22
Photic induced-driven PLEDs in paroxysmal dystonic choreoathetosis. ( 6467627 )
1984
23
Familial paroxysmal dystonic choreoathetosis and response to alternate-day oxazepam therapy. ( 6838177 )
1983
24
Paroxysmal dystonic choreoathetosis in a patient with familial ataxia. ( 6889704 )
1982
25
Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness. ( 7206405 )
1981
26
Paroxysmal dystonic choreoathetosis of Mount and Reback. ( 7355013 )
1980
27
Familial paroxysmal dystonic choreoathetosis of Mount and Reback and its differentiation from related syndromes. ( 616113 )
1977
28
Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. ( 617268 )
1977
29
Paroxysmal dystonic choreoathetosis. A family study and review of the literature. ( 5691173 )
1968

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 208)
# 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.97G> C (p.Ala33Pro) single nucleotide variant Benign rs121434513 GRCh37 Chromosome 2, 219136133: 219136133
6 PNKD NM_015488.4(PNKD): c.97G> C (p.Ala33Pro) single nucleotide variant Benign rs121434513 GRCh38 Chromosome 2, 218271410: 218271410
7 PNKD NM_015488.4(PNKD): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance rs878855015 GRCh37 Chromosome 2, 219135323: 219135323
8 PNKD NM_015488.4(PNKD): c.65G> A (p.Arg22Gln) single nucleotide variant Uncertain significance rs878855015 GRCh38 Chromosome 2, 218270600: 218270600
9 PNKD NM_015488.4(PNKD): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs149750691 GRCh37 Chromosome 2, 219209282: 219209282
10 PNKD NM_015488.4(PNKD): c.973C> T (p.Arg325Cys) single nucleotide variant Uncertain significance rs149750691 GRCh38 Chromosome 2, 218344559: 218344559
11 PNKD NM_015488.4(PNKD): c.486G> A (p.Gly162=) single nucleotide variant Benign rs34014804 GRCh37 Chromosome 2, 219205471: 219205471
12 PNKD NM_015488.4(PNKD): c.486G> A (p.Gly162=) single nucleotide variant Benign rs34014804 GRCh38 Chromosome 2, 218340748: 218340748
13 PNKD NM_015488.4(PNKD): c.781+12C> T single nucleotide variant Likely benign rs370963150 GRCh37 Chromosome 2, 219206879: 219206879
14 PNKD NM_015488.4(PNKD): c.781+12C> T single nucleotide variant Likely benign rs370963150 GRCh38 Chromosome 2, 218342156: 218342156
15 PNKD NM_015488.4(PNKD): c.*1821C> T single nucleotide variant Likely benign rs142330726 GRCh37 Chromosome 2, 219211525: 219211525
16 PNKD NM_015488.4(PNKD): c.*1821C> T single nucleotide variant Likely benign rs142330726 GRCh38 Chromosome 2, 218346802: 218346802
17 PNKD NM_015488.4(PNKD): c.165C> T (p.Pro55=) single nucleotide variant Likely benign rs201680473 GRCh37 Chromosome 2, 219136201: 219136201
18 PNKD NM_015488.4(PNKD): c.165C> T (p.Pro55=) single nucleotide variant Likely benign rs201680473 GRCh38 Chromosome 2, 218271478: 218271478
19 PNKD NM_015488.4(PNKD): c.237-9G> A single nucleotide variant Likely benign rs371173395 GRCh37 Chromosome 2, 219204497: 219204497
20 PNKD NM_015488.4(PNKD): c.237-9G> A single nucleotide variant Likely benign rs371173395 GRCh38 Chromosome 2, 218339774: 218339774
21 PNKD NM_015488.4(PNKD): c.915G> C (p.Glu305Asp) single nucleotide variant Uncertain significance rs201068431 GRCh37 Chromosome 2, 219209224: 219209224
22 PNKD NM_015488.4(PNKD): c.915G> C (p.Glu305Asp) single nucleotide variant Uncertain significance rs201068431 GRCh38 Chromosome 2, 218344501: 218344501
23 PNKD NM_015488.4(PNKD): c.350A> G (p.Asn117Ser) single nucleotide variant Benign rs199572198 GRCh37 Chromosome 2, 219204619: 219204619
24 PNKD NM_015488.4(PNKD): c.47G> T (p.Arg16Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 219135305: 219135305
25 PNKD NM_015488.4(PNKD): c.47G> T (p.Arg16Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 218270582: 218270582
26 PNKD NM_015488.4(PNKD): c.526G> A (p.Asp176Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 219206258: 219206258
27 PNKD NM_015488.4(PNKD): c.526G> A (p.Asp176Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 218341535: 218341535
28 PNKD NM_015488.4(PNKD): c.1102C> G (p.Arg368Gly) single nucleotide variant Uncertain significance rs185906233 GRCh37 Chromosome 2, 219209648: 219209648
29 PNKD NM_015488.4(PNKD): c.1102C> G (p.Arg368Gly) single nucleotide variant Uncertain significance rs185906233 GRCh38 Chromosome 2, 218344925: 218344925
30 PNKD NM_015488.4(PNKD): c.76_103del28 (p.Ala26Ilefs) deletion Uncertain significance GRCh37 Chromosome 2, 219136112: 219136139
31 PNKD NM_015488.4(PNKD): c.76_103del28 (p.Ala26Ilefs) deletion Uncertain significance GRCh38 Chromosome 2, 218271389: 218271416
32 PNKD NM_015488.4(PNKD): c.1149G> T (p.Lys383Asn) single nucleotide variant Uncertain significance rs760423147 GRCh37 Chromosome 2, 219209695: 219209695
33 PNKD NM_015488.4(PNKD): c.1149G> T (p.Lys383Asn) single nucleotide variant Uncertain significance rs760423147 GRCh38 Chromosome 2, 218344972: 218344972
34 PNKD NM_015488.4(PNKD): c.24G> A (p.Thr8=) single nucleotide variant Likely benign rs371342116 GRCh37 Chromosome 2, 219135282: 219135282
35 PNKD NM_015488.4(PNKD): c.24G> A (p.Thr8=) single nucleotide variant Likely benign rs371342116 GRCh38 Chromosome 2, 218270559: 218270559
36 PNKD NM_015488.4(PNKD): c.233C> T (p.Ala78Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 219136269: 219136269
37 PNKD NM_015488.4(PNKD): c.233C> T (p.Ala78Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 218271546: 218271546
38 PNKD NM_015488.4(PNKD): c.301C> T (p.Arg101Trp) single nucleotide variant Likely benign rs533033409 GRCh37 Chromosome 2, 219204570: 219204570
39 PNKD NM_015488.4(PNKD): c.301C> T (p.Arg101Trp) single nucleotide variant Likely benign rs533033409 GRCh38 Chromosome 2, 218339847: 218339847
40 PNKD NM_015488.4(PNKD): c.383C> T (p.Ser128Leu) single nucleotide variant Uncertain significance rs200782799 GRCh37 Chromosome 2, 219204782: 219204782
41 PNKD NM_015488.4(PNKD): c.383C> T (p.Ser128Leu) single nucleotide variant Uncertain significance rs200782799 GRCh38 Chromosome 2, 218340059: 218340059
42 PNKD NM_015488.4(PNKD): c.454C> T (p.Arg152Trp) single nucleotide variant Uncertain significance rs756863425 GRCh37 Chromosome 2, 219204853: 219204853
43 PNKD NM_015488.4(PNKD): c.454C> T (p.Arg152Trp) single nucleotide variant Uncertain significance rs756863425 GRCh38 Chromosome 2, 218340130: 218340130
44 PNKD NM_001077399.2(PNKD): c.396G> A (p.Pro132=) single nucleotide variant Benign rs148049021 GRCh37 Chromosome 2, 219137452: 219137452
45 PNKD NM_001077399.2(PNKD): c.396G> A (p.Pro132=) single nucleotide variant Benign rs148049021 GRCh38 Chromosome 2, 218272729: 218272729
46 PNKD NM_015488.4(PNKD): c.585delG (p.Ser196Alafs) deletion Uncertain significance GRCh38 Chromosome 2, 218341594: 218341594
47 PNKD NM_015488.4(PNKD): c.585delG (p.Ser196Alafs) deletion Uncertain significance GRCh37 Chromosome 2, 219206317: 219206317
48 PNKD NM_015488.4(PNKD): c.33G> A (p.Lys11=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 219135291: 219135291
49 PNKD NM_015488.4(PNKD): c.33G> A (p.Lys11=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 218270568: 218270568
50 PNKD NM_015488.4(PNKD): c.557G> A (p.Arg186Gln) single nucleotide variant Uncertain significance rs143162613 GRCh37 Chromosome 2, 219206289: 219206289

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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