PNKD1
MCID: PRX088
MIFTS: 35

Paroxysmal Nonkinesigenic Dyskinesia 1 (PNKD1)

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 58 12 76 30 6
Paroxysmal Dystonic Choreoathetosis 58 77 76
Mount-Reback Syndrome 58 77 76
Dystonia 8 58 76
Pnkd1 58 76
Fpd1 58 76
Dyt8 58 76
Pdc 58 76
Dyskinesia, Nonkinesigenic, Paroxysmal, Type 1 41
Choreoathetosis, Familial Paroxysmal; Fpd1 58
Paroxysmal Dystonic Choreoathetosis; Pdc 58
Choreoathetosis, Familial Paroxysmal 58
Paroxysmal Nonkinesigenic Dyskinesia 74
Choreoathetosis Familial Paroxysmal 77
Familial Paroxysmal Choreoathetosis 76
Choreoathetosis, Nonkinesigenic 58
Choreoathetosis Nonkinesigenic 76
Dystonia 8; Dyt8 58
Dystonia-8 76

Characteristics:

OMIM:

58
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:

33
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 : 76 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 Metallo-Beta-Lactamase Domain Containing). Affiliated tissues include bone, and 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 : 77 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 48)
# Related Disease Score Top Affiliating Genes
1 pyruvate dehydrogenase e1-alpha deficiency 12.0
2 retinitis pigmentosa 11.7
3 familial paroxysmal nonkinesigenic dyskinesia 11.7
4 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.6
5 dihydrolipoamide dehydrogenase deficiency 11.3
6 usher syndrome 11.2
7 respiratory allergy 11.1
8 timothy grass allergy 11.1
9 peach allergy 11.1
10 tomato allergy 11.1
11 nasal cavity disease 11.1
12 nose disease 11.1
13 insulinoma 10.4
14 hypoparathyroidism 10.4
15 hypoglycemia 10.4
16 dementia 10.2
17 episodic kinesigenic dyskinesia 1 10.2
18 dystonia 10.2
19 paroxysmal choreoathetosis 10.2
20 amyotrophic lateral sclerosis 1 10.2
21 lateral sclerosis 10.2
22 herpes simplex 10.2
23 leber congenital amaurosis 4 10.1
24 intermittent claudication 10.1
25 retinitis 10.1
26 genital herpes 10.1
27 choreatic disease 10.0
28 epilepsy 10.0
29 seizure disorder 10.0
30 hypophosphatemic bone disease 9.9
31 scleroderma, familial progressive 9.9
32 stiff-person syndrome 9.9
33 retinitis pigmentosa 12 9.9
34 horns in sheep 9.9
35 graft-versus-host disease 9.9
36 alopecia 9.9
37 hematopoietic stem cell transplantation 9.9
38 hepatitis 9.9
39 cutaneous lupus erythematosus 9.9
40 ophthalmomyiasis 9.9
41 tooth agenesis 9.9
42 allergic hypersensitivity disease 9.9
43 hepatitis a 9.9
44 vaccinia 9.9
45 human immunodeficiency virus infectious disease 9.9
46 influenza 9.9
47 lupus erythematosus 9.9
48 oral cancer 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

Human phenotypes related to Paroxysmal Nonkinesigenic Dyskinesia 1:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 dysarthria 33 HP:0001260
2 dysphagia 33 HP:0002015
3 paroxysmal dystonia 33 HP:0002268
4 torticollis 33 HP:0000473
5 myokymia 33 HP:0002411
6 facial grimacing 33 HP:0000273
7 paroxysmal choreoathetosis 33 HP:0007098

Symptoms via clinical synopsis from OMIM:

58
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

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

Genetic tests related to Paroxysmal Nonkinesigenic Dyskinesia 1:

# Genetic test Affiliating Genes
1 Paroxysmal Nonkinesigenic Dyskinesia 1 30 PNKD

Anatomical Context for Paroxysmal Nonkinesigenic Dyskinesia 1

MalaCards organs/tissues related to Paroxysmal Nonkinesigenic Dyskinesia 1:

42
Bone

Publications for Paroxysmal Nonkinesigenic Dyskinesia 1

Articles related to Paroxysmal Nonkinesigenic Dyskinesia 1:

(show all 34)
# Title Authors Year
1
Paroxysmal dystonic choreoathetosis with symptomatic seizures secondary to hypoglycemia caused by insulinoma. ( 22346027 )
2011
2
EFNS guidelines on diagnosis and treatment of primary dystonias. ( 20482602 )
2011
3
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. ( 19124534 )
2009
4
Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. ( 15824259 )
2005
5
Significance of recurrent mutations in the myofibrillogenesis regulator 1 gene. ( 16216955 )
2005
6
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. ( 15262732 )
2004
7
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. ( 15496428 )
2004
8
Post-streptococcal autoimmune neuropsychiatric disease presenting as paroxysmal dystonic choreoathetosis. ( 12210883 )
2002
9
Paroxysmal dystonic choreoathetosis: clinical features and investigation of pathophysiology in a large family. ( 10928574 )
2000
10
(+)-alpha-[11C]Dihydrotetrabenazine PET imaging in familial paroxysmal dystonic choreoathetosis. ( 10102431 )
1999
11
Gabapentin decreases the severity of dystonia at low doses in a genetic animal model of paroxysmal dystonic choreoathetosis. ( 10225372 )
1999
12
Familial paroxysmal dystonic choreoathetosis: clinical findings in a large Japanese family and genetic linkage to 2q. ( 10369313 )
1999
13
Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q. ( 10581498 )
1999
14
Further localization of a gene for paroxysmal dystonic choreoathetosis to a 5-cM region on chromosome 2q34. ( 9490305 )
1998
15
Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family. ( 9448567 )
1997
16
Paroxysmal dystonic choreoathetosis linked to chromosome 2q: clinical analysis and proposed pathophysiology. ( 9222187 )
1997
17
Gabapentin for familial paroxysmal dystonic choreoathetosis. ( 9371936 )
1997
18
[A Japanese family with paroxysmal dystonic choreoathetosis]. ( 9490902 )
1997
19
A case report of paroxysmal dystonic choreoathetosis due to hypoglycaemia induced by an insulinoma. ( 8708689 )
1996
20
Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. ( 8659518 )
1996
21
Familial paroxysmal dystonic choreoathetosis revisited. ( 8723150 )
1996
22
Idiopathic hypoparathyroidism and paroxysmal dystonic choreoathetosis. ( 3271006 )
1988
23
Paroxysmal kinesigenic choreoathetosis and paroxysmal dystonic choreoathetosis in a patient with familial idiopathic hypoparathyroidism. ( 3576617 )
1987
24
Basal ganglion calcification in paroxysmal dystonic choreoathetosis. ( 3435075 )
1987
25
Familial paroxysmal dystonic choreoathetosis: a family study. ( 3504549 )
1987
26
Sporadic paroxysmal dystonic choreoathetosis associated with basal ganglia calcifications. ( 3813505 )
1986
27
Photic induced-driven PLEDs in paroxysmal dystonic choreoathetosis. ( 6467627 )
1984
28
Familial paroxysmal dystonic choreoathetosis and response to alternate-day oxazepam therapy. ( 6838177 )
1983
29
Paroxysmal dystonic choreoathetosis in a patient with familial ataxia. ( 6889704 )
1982
30
Familial paroxysmal dystonic choreoathetosis: a neurologic disorder simulating psychiatric illness. ( 7206405 )
1981
31
Paroxysmal dystonic choreoathetosis of Mount and Reback. ( 7355013 )
1980
32
Familial paroxysmal dystonic choreoathetosis of Mount and Reback and its differentiation from related syndromes. ( 616113 )
1977
33
Familial paroxysmal dystonic choreoathetosis and its differentiation from related syndromes. ( 617268 )
1977
34
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:

76
# 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_001077399.2(PNKD): c.20C> T (p.Ala7Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121434512 GRCh37 Chromosome 2, 219135278: 219135278
4 PNKD NM_001077399.2(PNKD): c.20C> T (p.Ala7Val) single nucleotide variant Conflicting interpretations of pathogenicity 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.331A> G (p.Thr111Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs202190131 GRCh38 Chromosome 2, 218339877: 218339877
16 PNKD NM_015488.4(PNKD): c.*507G> C single nucleotide variant Benign rs7586140 GRCh38 Chromosome 2, 218345488: 218345488
17 PNKD NM_015488.4(PNKD): c.*507G> C single nucleotide variant Benign rs7586140 GRCh37 Chromosome 2, 219210211: 219210211
18 PNKD NM_015488.4(PNKD): c.*982C> T single nucleotide variant Likely benign rs140903787 GRCh38 Chromosome 2, 218345963: 218345963
19 PNKD NM_015488.4(PNKD): c.*982C> T single nucleotide variant Likely benign rs140903787 GRCh37 Chromosome 2, 219210686: 219210686
20 PNKD NM_015488.4(PNKD): c.*1193C> T single nucleotide variant Benign rs76752438 GRCh38 Chromosome 2, 218346174: 218346174
21 PNKD NM_015488.4(PNKD): c.*1193C> T single nucleotide variant Benign rs76752438 GRCh37 Chromosome 2, 219210897: 219210897
22 PNKD NM_015488.4(PNKD): c.*1476A> G single nucleotide variant Uncertain significance rs886055623 GRCh38 Chromosome 2, 218346457: 218346457
23 PNKD NM_015488.4(PNKD): c.*1476A> G single nucleotide variant Uncertain significance rs886055623 GRCh37 Chromosome 2, 219211180: 219211180
24 PNKD NM_015488.4(PNKD): c.*1723T> C single nucleotide variant Benign rs58320146 GRCh38 Chromosome 2, 218346704: 218346704
25 PNKD NM_015488.4(PNKD): c.*1723T> C single nucleotide variant Benign rs58320146 GRCh37 Chromosome 2, 219211427: 219211427
26 PNKD NM_015488.4(PNKD): c.*680_*681dupTC duplication Benign rs397775550 GRCh37 Chromosome 2, 219210384: 219210385
27 PNKD NM_015488.4(PNKD): c.*838C> T single nucleotide variant Likely benign rs560187472 GRCh38 Chromosome 2, 218345819: 218345819
28 PNKD NM_015488.4(PNKD): c.*838C> T single nucleotide variant Likely benign rs560187472 GRCh37 Chromosome 2, 219210542: 219210542
29 PNKD NM_015488.4(PNKD): c.*992C> G single nucleotide variant Likely benign rs115429065 GRCh38 Chromosome 2, 218345973: 218345973
30 PNKD NM_015488.4(PNKD): c.*992C> G single nucleotide variant Likely benign rs115429065 GRCh37 Chromosome 2, 219210696: 219210696
31 PNKD NM_015488.4(PNKD): c.*1141G> A single nucleotide variant Likely benign rs577960985 GRCh38 Chromosome 2, 218346122: 218346122
32 PNKD NM_015488.4(PNKD): c.*1141G> A single nucleotide variant Likely benign rs577960985 GRCh37 Chromosome 2, 219210845: 219210845
33 PNKD NM_015488.4(PNKD): c.-65G> A single nucleotide variant Uncertain significance rs570619432 GRCh38 Chromosome 2, 218270471: 218270471
34 PNKD NM_015488.4(PNKD): c.-65G> A single nucleotide variant Uncertain significance rs570619432 GRCh37 Chromosome 2, 219135194: 219135194
35 PNKD NM_015488.4(PNKD): c.2T> G (p.Met1Arg) single nucleotide variant Uncertain significance rs775653461 GRCh38 Chromosome 2, 218270537: 218270537
36 PNKD NM_015488.4(PNKD): c.2T> G (p.Met1Arg) single nucleotide variant Uncertain significance rs775653461 GRCh37 Chromosome 2, 219135260: 219135260
37 PNKD NM_015488.4(PNKD): c.37C> T (p.Arg13Trp) single nucleotide variant Uncertain significance rs886055619 GRCh38 Chromosome 2, 218270572: 218270572
38 PNKD NM_015488.4(PNKD): c.37C> T (p.Arg13Trp) single nucleotide variant Uncertain significance rs886055619 GRCh37 Chromosome 2, 219135295: 219135295
39 PNKD NM_015488.4(PNKD): c.466-3C> A single nucleotide variant Uncertain significance rs370929830 GRCh38 Chromosome 2, 218340725: 218340725
40 PNKD NM_015488.4(PNKD): c.466-3C> A single nucleotide variant Uncertain significance rs370929830 GRCh37 Chromosome 2, 219205448: 219205448
41 PNKD NM_015488.4(PNKD): c.653G> A (p.Arg218Gln) single nucleotide variant Likely benign rs746884706 GRCh38 Chromosome 2, 218342016: 218342016
42 PNKD NM_015488.4(PNKD): c.653G> A (p.Arg218Gln) single nucleotide variant Likely benign rs746884706 GRCh37 Chromosome 2, 219206739: 219206739
43 PNKD NM_015488.4(PNKD): c.*902T> C single nucleotide variant Benign rs1052578 GRCh38 Chromosome 2, 218345883: 218345883
44 PNKD NM_015488.4(PNKD): c.*902T> C single nucleotide variant Benign rs1052578 GRCh37 Chromosome 2, 219210606: 219210606
45 PNKD NM_015488.4(PNKD): c.*1077G> A single nucleotide variant Benign rs9076 GRCh38 Chromosome 2, 218346058: 218346058
46 PNKD NM_015488.4(PNKD): c.*1077G> A single nucleotide variant Benign rs9076 GRCh37 Chromosome 2, 219210781: 219210781
47 PNKD NM_015488.4(PNKD): c.*1118T> A single nucleotide variant Uncertain significance rs762512024 GRCh38 Chromosome 2, 218346099: 218346099
48 PNKD NM_015488.4(PNKD): c.*1118T> A single nucleotide variant Uncertain significance rs762512024 GRCh37 Chromosome 2, 219210822: 219210822
49 PNKD NM_015488.4(PNKD): c.*1821C> T single nucleotide variant Likely benign rs142330726 GRCh37 Chromosome 2, 219211525: 219211525
50 PNKD NM_015488.4(PNKD): c.*1821C> T single nucleotide variant Likely benign rs142330726 GRCh38 Chromosome 2, 218346802: 218346802

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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