EA4
MCID: EPS037
MIFTS: 28

Episodic Ataxia, Type 4 (EA4)

Categories: Genetic diseases, Muscle 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 57 70
Episodic Ataxia Type 4 12 58 15
Periodic Vestibulocerebellar Ataxia 57 58
Patx 57 58
Periodic Vestibulocerebellar Ataxia; Patx 57
Ataxia, Periodic Vestibulocerebellar 57
Ea4 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 606552
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 71 C1847843
Orphanet 58 ORPHA79136
MedGen 41 C1847843
UMLS 70 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 pathologic nystagmus and machado-joseph disease, and has symptoms including ataxia, vertigo and tinnitus. An important gene associated with Episodic Ataxia, Type 4 is RERGL (RERG Like). Related phenotypes are ataxia and diplopia

More information from OMIM: 606552

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 gaze-evoked nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000640
8 abnormality of ocular smooth pursuit 58 31 frequent (33%) Frequent (79-30%) HP:0000617
9 nausea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002018
10 spasticity 31 HP:0001257
11 tinnitus 31 HP:0000360
12 episodic ataxia 31 HP:0002131
13 incoordination 58 Frequent (79-30%)
14 esophoria 31 HP:0025312

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

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. 57
16009908 2005
2
An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. 57
11673600 2001
3
Ocular motility in North Carolina autosomal dominant ataxia. 57
8797163 1996
4
Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. 57
8929156 1996
5
Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations. 57
13944410 1963
6
Gabapentin Relieves Vertigo of Periodic Vestibulocerebellar Ataxia: 3 Cases and Possible Mechanism. 61
33452831 2021
7
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

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 GABRP CACNB4
2 regulation of ion transmembrane transport GO:0034765 9.16 KCNIP1 CACNB4
3 cardiac conduction GO:0061337 8.96 KCNIP1 CACNB4
4 ion transport GO:0006811 8.92 KCNIP1 GABRP CACNB4 ATP6V0E1

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 8.62 KCNIP1 CACNB4

Sources for Episodic Ataxia, Type 4

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....