EKD2
MCID: EPS013
MIFTS: 23

Episodic Kinesigenic Dyskinesia 2 (EKD2)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Kinesigenic Dyskinesia 2

MalaCards integrated aliases for Episodic Kinesigenic Dyskinesia 2:

Name: Episodic Kinesigenic Dyskinesia 2 58 12 13 15 74
Dystonia 19; Dyt19 58
Dystonia 19 58
Dyt19 58
Ekd2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
episodic kinesigenic dyskinesia 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090054
OMIM 58 611031
ICD10 34 G24.8
MedGen 43 C1970238
SNOMED-CT via HPO 70 263681008 271700006 9748009
UMLS 74 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 cone-rod dystrophy and hearing loss 2, and has symptoms including dystonia, paroxysmal An important gene associated with Episodic Kinesigenic Dyskinesia 2 is EKD2 (Episodic Kinesigenic Dyskinesia 2). Related phenotypes are chorea and dyskinesia

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 32.0 PNKD PRRT2
2 cone-rod dystrophy and hearing loss 2 11.1
3 familial paroxysmal nonkinesigenic dyskinesia 9.9 PNKD PRRT2
4 paroxysmal choreoathetosis 9.9 PNKD PRRT2
5 choreatic disease 9.9 PNKD PRRT2
6 dystonia 9.8 PNKD PRRT2
7 dystonia, dopa-responsive 9.7 PNKD PRRT2
8 bile duct adenocarcinoma 9.7 HRAS PRRT2
9 benign epilepsy with centrotemporal spikes 9.6 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

Human phenotypes related to Episodic Kinesigenic Dyskinesia 2:

33
# Description HPO Frequency HPO Source Accession
1 chorea 33 HP:0002072
2 dyskinesia 33 HP:0100660
3 dystonia 33 HP:0001332
4 paroxysmal dyskinesia 33 HP:0007166

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dystonia, episodic
dyskinesia, episodic
abnormal involuntary movements
choreic movements, episodic
episodes last up to 2 minutes
more

Clinical features from OMIM:

611031

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

Articles related to Episodic Kinesigenic Dyskinesia 2:

# Title Authors Year
1
A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. ( 11004121 )
2000

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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