PNKD2
MCID: PRX024
MIFTS: 18

Paroxysmal Nonkinesigenic Dyskinesia 2 (PNKD2)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Paroxysmal Nonkinesigenic Dyskinesia 2

MalaCards integrated aliases for Paroxysmal Nonkinesigenic Dyskinesia 2:

Name: Paroxysmal Nonkinesigenic Dyskinesia 2 57 12 29 13 70
Dystonia 20; Dyt20 57
Dystonia 20 57
Pnkd2 57
Dyt20 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset (range childhood to late adult)
episodes typically last 2 to 5 minutes and occur daily or several times per month
episodes not triggered by alcohol, caffeine, or stress
reduced penetrance (89%)


HPO:

31
paroxysmal nonkinesigenic dyskinesia 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090047
OMIM® 57 611147
OMIM Phenotypic Series 57 PS128100
ICD10 32 G24.8
MedGen 41 C1970149
UMLS 70 C1970149

Summaries for Paroxysmal Nonkinesigenic Dyskinesia 2

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 autosomal dominant inheritance of variation in the chromosome region 2q31.

MalaCards based summary : Paroxysmal Nonkinesigenic Dyskinesia 2, also known as dystonia 20; dyt20, is related to mecr-related neurologic disorder. An important gene associated with Paroxysmal Nonkinesigenic Dyskinesia 2 is PNKD2 (Paroxysmal Nonkinesigenic Dyskinesia 2). Related phenotypes are migraine and paroxysmal dystonia

More information from OMIM: 611147 PS128100

Related Diseases for Paroxysmal Nonkinesigenic Dyskinesia 2

Diseases in the Familial Paroxysmal Nonkinesigenic Dyskinesia family:

Paroxysmal Nonkinesigenic Dyskinesia 1 Paroxysmal Nonkinesigenic Dyskinesia 2

Diseases related to Paroxysmal Nonkinesigenic Dyskinesia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mecr-related neurologic disorder 11.1

Symptoms & Phenotypes for Paroxysmal Nonkinesigenic Dyskinesia 2

Human phenotypes related to Paroxysmal Nonkinesigenic Dyskinesia 2:

31
# Description HPO Frequency HPO Source Accession
1 migraine 31 occasional (7.5%) HP:0002076
2 paroxysmal dystonia 31 HP:0002268
3 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures (rare)
dystonia, episodic, primary affects hands and feet
migraines (less common)

Clinical features from OMIM®:

611147 (Updated 05-Apr-2021)

Drugs & Therapeutics for Paroxysmal Nonkinesigenic Dyskinesia 2

Search Clinical Trials , NIH Clinical Center for Paroxysmal Nonkinesigenic Dyskinesia 2

Genetic Tests for Paroxysmal Nonkinesigenic Dyskinesia 2

Genetic tests related to Paroxysmal Nonkinesigenic Dyskinesia 2:

# Genetic test Affiliating Genes
1 Paroxysmal Nonkinesigenic Dyskinesia 2 29

Anatomical Context for Paroxysmal Nonkinesigenic Dyskinesia 2

Publications for Paroxysmal Nonkinesigenic Dyskinesia 2

Articles related to Paroxysmal Nonkinesigenic Dyskinesia 2:

# Title Authors PMID Year
1
Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. 57
16717228 2006
2
Genetics of primary torsion dystonia. 61
20425035 2010
3
The monogenic primary dystonias. 61
19578124 2009

Variations for Paroxysmal Nonkinesigenic Dyskinesia 2

Expression for Paroxysmal Nonkinesigenic Dyskinesia 2

Search GEO for disease gene expression data for Paroxysmal Nonkinesigenic Dyskinesia 2.

Pathways for Paroxysmal Nonkinesigenic Dyskinesia 2

GO Terms for Paroxysmal Nonkinesigenic Dyskinesia 2

Sources for Paroxysmal Nonkinesigenic Dyskinesia 2

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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