EKD2
MCID: EPS013
MIFTS: 26

Episodic Kinesigenic Dyskinesia 2 (EKD2)

Categories: Genetic diseases, Muscle 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 57 12 13 15 70
Dystonia 19; Dyt19 57
Dystonia 19 57
Dyt19 57
Ekd2 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
episodic kinesigenic dyskinesia 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090054
OMIM® 57 611031
OMIM Phenotypic Series 57 PS128100 PS128200
ICD10 32 G24.8
MedGen 41 C1970238
SNOMED-CT via HPO 68 263681008 271700006 9748009
UMLS 70 C1970238

Summaries for Episodic Kinesigenic Dyskinesia 2

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

MalaCards based summary : Episodic Kinesigenic Dyskinesia 2, also known as dystonia 19; dyt19, is related to familial paroxysmal nonkinesigenic dyskinesia and paroxysmal nonkinesigenic dyskinesia 1, and has symptoms including dystonia, paroxysmal An important gene associated with Episodic Kinesigenic Dyskinesia 2 is EKD2 (Episodic Kinesigenic Dyskinesia 2), and among its related pathways/superpathways is Visual Cycle in Retinal Rods. Related phenotypes are chorea and dyskinesia

More information from OMIM: 611031 PS128100 PS128200

Related Diseases for Episodic Kinesigenic Dyskinesia 2

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:

31
# Description HPO Frequency HPO Source Accession
1 chorea 31 HP:0002072
2 dyskinesia 31 HP:0100660
3 dystonia 31 HP:0001332
4 paroxysmal dyskinesia 31 HP:0007166

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Episodic Kinesigenic Dyskinesia 2:


dystonia, paroxysmal

Drugs & Therapeutics for Episodic Kinesigenic Dyskinesia 2

Search Clinical Trials , 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 PMID 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. 57 61
11004121 2000
2
Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD gene. 57
12210861 2002
3
A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. 57
10636137 2000
4
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. 57
10577923 1999
5
[Paroxysmal kinesigenic dyskinesia: a channelopathy? Study of 19 cases]. 61
18922556 2009
6
Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree. 61
12571782 2002
7
Mutation analysis of the sodium/hydrogen exchanger gene (NHE5) in familial paroxysmal kinesigenic dyskinesia. 61
12203045 2002

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

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

# Super pathways Score Top Affiliating Genes
1 10.6 SLC8A1 PRKCE

GO Terms for Episodic Kinesigenic Dyskinesia 2

Cellular components related to Episodic Kinesigenic Dyskinesia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell periphery GO:0071944 8.96 SLC8A1 PRKCE
2 axon terminus GO:0043679 8.62 SLC8A1 PRRT2

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

# Name GO ID Score Top Affiliating Genes
1 cellular calcium ion homeostasis GO:0006874 9.37 SLC8A1 ATP13A3
2 sodium ion transmembrane transport GO:0035725 9.32 SLC9A5 SLC8A1
3 cation transport GO:0006812 9.26 SLC9A5 ATP13A3
4 sodium ion import across plasma membrane GO:0098719 9.16 SLC9A5 SLC8A1
5 positive regulation of fibroblast migration GO:0010763 8.96 SLC8A1 PRKCE
6 neuromuscular process controlling posture GO:0050884 8.62 PRRT2 PNKD

Molecular functions related to Episodic Kinesigenic Dyskinesia 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 8.62 SLC9A5 SLC8A1

Sources for Episodic Kinesigenic 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....