EA3
MCID: EPS014
MIFTS: 27

Episodic Ataxia, Type 3 (EA3)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Ataxia, Type 3

MalaCards integrated aliases for Episodic Ataxia, Type 3:

Name: Episodic Ataxia, Type 3 57 13
Episodic Ataxia Type 3 12 58 15
Episodic Ataxia-Vertigo-Tinnitus-Myokymia Syndrome 58
Ataxia, Episodic, with Vertigo and Tinnitus 57
Ea3 57

Characteristics:

Orphanet epidemiological data:

58
episodic ataxia type 3
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset
symptoms precipitated by sudden movement, stress, exertion, fatigue
response to acetazolamide
attacks typically last for minutes


HPO:

31
episodic ataxia, type 3:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050991
OMIM® 57 606554
OMIM Phenotypic Series 57 PS160120
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 71 C1847839
Orphanet 58 ORPHA79135
MedGen 41 C1847839

Summaries for Episodic Ataxia, Type 3

Disease Ontology : 12 An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has material basis in autosomal dominant inheritance.

MalaCards based summary : Episodic Ataxia, Type 3, also known as episodic ataxia type 3, is related to episodic ataxia and benign paroxysmal positional nystagmus. An important gene associated with Episodic Ataxia, Type 3 is EA3 (Episodic Ataxia, Type 3), and among its related pathways/superpathways are Synaptic vesicle cycle and Nicotine addiction. Related phenotypes are vertigo and episodic ataxia

More information from OMIM: 606554 PS160120

Related Diseases for Episodic Ataxia, Type 3

Graphical network of the top 20 diseases related to Episodic Ataxia, Type 3:



Diseases related to Episodic Ataxia, Type 3

Symptoms & Phenotypes for Episodic Ataxia, Type 3

Human phenotypes related to Episodic Ataxia, Type 3:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vertigo 58 31 obligate (100%) Obligate (100%) HP:0002321
2 episodic ataxia 58 31 obligate (100%) Obligate (100%) HP:0002131
3 tinnitus 58 31 frequent (33%) Frequent (79-30%) HP:0000360
4 myokymia 58 31 frequent (33%) Frequent (79-30%) HP:0002411
5 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
6 hemiplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002301
7 seizure 31 occasional (7.5%) HP:0001250
8 headache 58 31 Excluded (0%) HP:0002315
9 seizures 58 Occasional (29-5%)
10 diplopia 31 HP:0000651
11 muscle weakness 31 HP:0001324
12 vomiting 31 HP:0002013
13 migraine 58 Excluded (0%)
14 nausea 31 HP:0002018

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
diplopia
visual blurring

Neurologic Central Nervous System:
vertigo
myokymia
weakness
ataxia, episodic

Head And Neck Ears:
tinnitus

Abdomen Gastrointestinal:
vomiting
nausea

Head And Neck Head:
headache

Clinical features from OMIM®:

606554 (Updated 05-Apr-2021)

Drugs & Therapeutics for Episodic Ataxia, Type 3

Search Clinical Trials , NIH Clinical Center for Episodic Ataxia, Type 3

Genetic Tests for Episodic Ataxia, Type 3

Anatomical Context for Episodic Ataxia, Type 3

Publications for Episodic Ataxia, Type 3

Articles related to Episodic Ataxia, Type 3:

# 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

Variations for Episodic Ataxia, Type 3

Expression for Episodic Ataxia, Type 3

Search GEO for disease gene expression data for Episodic Ataxia, Type 3.

Pathways for Episodic Ataxia, Type 3

Pathways related to Episodic Ataxia, Type 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.07 CACNA1A ATP6V0E1
2 10.23 GABRP CACNA1A

GO Terms for Episodic Ataxia, Type 3

Biological processes related to Episodic Ataxia, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.16 GABRP CACNA1A
2 ion transport GO:0006811 9.13 GABRP CACNA1A ATP6V0E1
3 ion transmembrane transport GO:0034220 8.8 GABRP CACNA1A ATP6V0E1

Molecular functions related to Episodic Ataxia, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.62 GABRP CACNA1A

Sources for Episodic Ataxia, Type 3

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
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