EA4
MCID: EPS037
MIFTS: 29

Episodic Ataxia, Type 4 (EA4)

Categories: Ear diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Ataxia, Type 4

MalaCards integrated aliases for Episodic Ataxia, Type 4:

Name: Episodic Ataxia, Type 4 56 71
Episodic Ataxia Type 4 12 58 15
Periodic Vestibulocerebellar Ataxia 56 58
Patx 56 58
Periodic Vestibulocerebellar Ataxia; Patx 56
Ataxia, Periodic Vestibulocerebellar 56
Ea4 56

Characteristics:

Orphanet epidemiological data:

58
episodic ataxia type 4
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
age of onset 30 to 60 years
symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours
attacks are not responsive to acetazolamide


HPO:

31
episodic ataxia, type 4:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050992
OMIM 56 606552
OMIM Phenotypic Series 56 PS160120
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 72 C1847843
Orphanet 58 ORPHA79136
MedGen 41 C1847843
UMLS 71 C1847843

Summaries for Episodic Ataxia, Type 4

Disease Ontology : 12 An episodic ataxia that is characterized by vertigo and diplopia.

MalaCards based summary : Episodic Ataxia, Type 4, also known as episodic ataxia type 4, is related to machado-joseph disease and seizures, benign familial neonatal, 1, and has symptoms including ataxia, vertigo and tinnitus. An important gene associated with Episodic Ataxia, Type 4 is RERGL (RERG Like). Affiliated tissues include eye, and related phenotypes are ataxia and diplopia

More information from OMIM: 606552 PS160120

Related Diseases for Episodic Ataxia, Type 4

Graphical network of the top 20 diseases related to Episodic Ataxia, Type 4:



Diseases related to Episodic Ataxia, Type 4

Symptoms & Phenotypes for Episodic Ataxia, Type 4

Human phenotypes related to Episodic Ataxia, Type 4:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 diplopia 58 31 frequent (33%) Frequent (79-30%) HP:0000651
3 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
4 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
5 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
6 abnormal head movements 58 31 frequent (33%) Frequent (79-30%) HP:0002457
7 abnormality of ocular smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0000617
8 gaze-evoked nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000640
9 nausea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002018
10 spasticity 31 HP:0001257
11 tinnitus 31 HP:0000360
12 incoordination 58 Frequent (79-30%)
13 episodic ataxia 31 HP:0002131
14 esophoria 31 HP:0025312

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
vertigo
ataxia, episodic

Head And Neck Ears:
tinnitus

Head And Neck Eyes:
diplopia
gaze-evoked nystagmus
esophoria
oscillopsia
abnormal smooth pursuits
more
Abdomen Gastrointestinal:
nausea

Clinical features from OMIM:

606552

UMLS symptoms related to Episodic Ataxia, Type 4:


ataxia, vertigo, tinnitus, nausea, muscle spasticity

Drugs & Therapeutics for Episodic Ataxia, Type 4

Search Clinical Trials , NIH Clinical Center for Episodic Ataxia, Type 4

Genetic Tests for Episodic Ataxia, Type 4

Anatomical Context for Episodic Ataxia, Type 4

MalaCards organs/tissues related to Episodic Ataxia, Type 4:

40
Eye

Publications for Episodic Ataxia, Type 4

Articles related to Episodic Ataxia, Type 4:

# Title Authors PMID Year
1
A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. 56
16009908 2005
2
An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. 56
11673600 2001
3
Ocular motility in North Carolina autosomal dominant ataxia. 56
8797163 1996
4
Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. 56
8929156 1996
5
Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations. 56
13944410 1963
6
Neuropathology in a case of episodic ataxia type 4. 61
26264377 2016

Variations for Episodic Ataxia, Type 4

Expression for Episodic Ataxia, Type 4

Search GEO for disease gene expression data for Episodic Ataxia, Type 4.

Pathways for Episodic Ataxia, Type 4

GO Terms for Episodic Ataxia, Type 4

Cellular components related to Episodic Ataxia, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.43 RERGL PIK3C2G KCNMB1 KCNIP1 GABRP ATP6V0E1
2 voltage-gated potassium channel complex GO:0008076 8.62 KCNMB1 KCNIP1

Biological processes related to Episodic Ataxia, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.26 KCNMB1 GABRP
2 potassium ion transport GO:0006813 9.16 KCNMB1 KCNIP1
3 potassium ion transmembrane transport GO:0071805 8.96 KCNMB1 KCNIP1
4 ion transport GO:0006811 8.8 KCNMB1 KCNIP1 GABRP

Molecular functions related to Episodic Ataxia, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium channel regulator activity GO:0015459 8.62 KCNMB1 KCNIP1

Sources for Episodic Ataxia, Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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