MCID: PRX024
MIFTS: 19

Paroxysmal Nonkinesigenic Dyskinesia 2

Categories: Neuronal diseases, Genetic 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 73
Dystonia 20; Dyt20 57
Dystonia 20 57
Pnkd2 57
Dyt20 57

Characteristics:

OMIM:

57
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:

32
paroxysmal nonkinesigenic dyskinesia 2:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 611147
Disease Ontology 12 DOID:0090047
ICD10 33 G24.8
MedGen 42 C1970149
UMLS 73 C1970149

Summaries for Paroxysmal Nonkinesigenic Dyskinesia 2

Disease Ontology : 12 A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31.

MalaCards based summary : Paroxysmal Nonkinesigenic Dyskinesia 2, also known as dystonia 20; dyt20, is related to mepan syndrome and familial paroxysmal nonkinesigenic dyskinesia. An important gene associated with Paroxysmal Nonkinesigenic Dyskinesia 2 is PNKD2 (Paroxysmal Nonkinesigenic Dyskinesia 2). Related phenotypes are seizures and migraine

Description from OMIM: 611147

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 mepan syndrome 11.0
2 familial paroxysmal nonkinesigenic dyskinesia 10.9

Symptoms & Phenotypes for Paroxysmal Nonkinesigenic Dyskinesia 2

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

611147

Human phenotypes related to Paroxysmal Nonkinesigenic Dyskinesia 2:

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 migraine 32 occasional (7.5%) HP:0002076
3 paroxysmal dystonia 32 HP:0002268

Drugs & Therapeutics for Paroxysmal Nonkinesigenic Dyskinesia 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dystonia Genotype-Phenotype Correlation Recruiting NCT03428009

Search 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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