MCID: EPS013
MIFTS: 23

Episodic Kinesigenic Dyskinesia 2

Categories: Neuronal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Episodic Kinesigenic Dyskinesia 2

MalaCards integrated aliases for Episodic Kinesigenic Dyskinesia 2:

Name: Episodic Kinesigenic Dyskinesia 2 57 12 13 15 73
Dystonia 19; Dyt19 57
Dystonia 19 57
Dyt19 57
Ekd2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood or adolescence
male-to-female ratio, 1.8 to 1
symptoms precipitated by sudden movements
favorable response to anticonvulsants
symptoms often decrease or remit with age
genetic heterogeneity, see ekd1


HPO:

32
episodic kinesigenic dyskinesia 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611031
Disease Ontology 12 DOID:0090054
ICD10 33 G24.8
MedGen 42 C1970238
SNOMED-CT via HPO 69 263681008 271700006 9748009
UMLS 73 C1970238

Summaries for Episodic Kinesigenic Dyskinesia 2

Disease Ontology : 12 A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1.

MalaCards based summary : Episodic Kinesigenic Dyskinesia 2, also known as dystonia 19; dyt19, is related to episodic kinesigenic dyskinesia 1 and familial paroxysmal nonkinesigenic dyskinesia, and has symptoms including dystonia, paroxysmal An important gene associated with Episodic Kinesigenic Dyskinesia 2 is EKD2 (Episodic Kinesigenic Dyskinesia 2). Related phenotypes are dystonia and chorea

Description from OMIM: 611031

Related Diseases for Episodic Kinesigenic Dyskinesia 2

Diseases in the Episodic Kinesigenic Dyskinesia 1 family:

Episodic Kinesigenic Dyskinesia 2

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

# Related Disease Score Top Affiliating Genes
1 episodic kinesigenic dyskinesia 1 30.5 EKD2 PRRT2 SLC9A5
2 familial paroxysmal nonkinesigenic dyskinesia 9.8 PNKD PRRT2
3 paroxysmal choreoathetosis 9.8 PNKD PRRT2
4 choreatic disease 9.8 PNKD PRRT2
5 dystonia, dopa-responsive 9.7 PNKD PRRT2
6 benign epilepsy with centrotemporal spikes 9.6 PNKD PRRT2
7 migraine with or without aura 1 9.5 PNKD PRRT2
8 bile duct adenocarcinoma 9.4 HRAS PRRT2
9 dystonia 9.2 PNKD PRRT2

Graphical network of the top 20 diseases related to Episodic Kinesigenic Dyskinesia 2:



Diseases related to Episodic Kinesigenic Dyskinesia 2

Symptoms & Phenotypes for Episodic Kinesigenic Dyskinesia 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dyskinesia, episodic
choreic movements, episodic
dystonia, episodic
abnormal involuntary movements
episodes last up to 2 minutes
more

Clinical features from OMIM:

611031

Human phenotypes related to Episodic Kinesigenic Dyskinesia 2:

32
# Description HPO Frequency HPO Source Accession
1 dystonia 32 HP:0001332
2 chorea 32 HP:0002072
3 paroxysmal dyskinesia 32 HP:0007166
4 dyskinesia 32 HP:0100660

UMLS symptoms related to Episodic Kinesigenic Dyskinesia 2:


dystonia, paroxysmal

Drugs & Therapeutics for Episodic Kinesigenic Dyskinesia 2

Interventional clinical trials:


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

Search NIH Clinical Center for Episodic Kinesigenic Dyskinesia 2

Genetic Tests for Episodic Kinesigenic Dyskinesia 2

Anatomical Context for Episodic Kinesigenic Dyskinesia 2

Publications for Episodic Kinesigenic Dyskinesia 2

Variations for Episodic Kinesigenic Dyskinesia 2

Expression for Episodic Kinesigenic Dyskinesia 2

Search GEO for disease gene expression data for Episodic Kinesigenic Dyskinesia 2.

Pathways for Episodic Kinesigenic Dyskinesia 2

GO Terms for Episodic Kinesigenic Dyskinesia 2

Biological processes related to Episodic Kinesigenic Dyskinesia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling posture GO:0050884 8.62 PNKD PRRT2

Sources for Episodic Kinesigenic 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
Content
Loading form....