EA3
MCID: EPS014
MIFTS: 23

Episodic Ataxia, Type 3 (EA3)

Categories: Ear diseases, Eye diseases, Genetic 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 58 13
Episodic Ataxia Type 3 12 60
Episodic Ataxia-Vertigo-Tinnitus-Myokymia Syndrome 60
Ataxia, Episodic, with Vertigo and Tinnitus 58
Ea3 58

Characteristics:

Orphanet epidemiological data:

60
episodic ataxia type 3
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
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:

33
episodic ataxia, type 3:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050991
OMIM 58 606554
ICD10 via Orphanet 35 G11.8
UMLS via Orphanet 75 C1847839
Orphanet 60 ORPHA79135
MedGen 43 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. An important gene associated with Episodic Ataxia, Type 3 is EA3 (Episodic Ataxia, Type 3). The drugs Epoetin alfa and Hematinics have been mentioned in the context of this disorder. Related phenotypes are diplopia and muscle weakness

Description from OMIM: 606554

Related Diseases for Episodic Ataxia, Type 3

Diseases in the Episodic Ataxia family:

Episodic Ataxia, Type 2 Episodic Ataxia, Type 1
Episodic Ataxia, Type 4 Episodic Ataxia, Type 3
Episodic Ataxia, Type 7 Episodic Ataxia, Type 6
Episodic Ataxia, Type 5 Episodic Ataxia, Type 8

Diseases related to Episodic Ataxia, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 episodic ataxia 11.3

Symptoms & Phenotypes for Episodic Ataxia, Type 3

Human phenotypes related to Episodic Ataxia, Type 3:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 diplopia 33 HP:0000651
2 muscle weakness 33 HP:0001324
3 vomiting 33 HP:0002013
4 vertigo 33 HP:0002321
5 headache 33 HP:0002315
6 tinnitus 33 HP:0000360
7 nausea 33 HP:0002018
8 episodic ataxia 33 HP:0002131
9 myokymia 33 HP:0002411

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
diplopia
visual blurring

Neurologic Central Nervous System:
vertigo
myokymia
ataxia, episodic
weakness

Head And Neck Ears:
tinnitus

Abdomen Gastrointestinal:
vomiting
nausea

Head And Neck Head:
headache

Clinical features from OMIM:

606554

Drugs & Therapeutics for Episodic Ataxia, Type 3

Drugs for Episodic Ataxia, Type 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Epoetin alfa Phase 4 113427-24-0
2 Hematinics Phase 4
3 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chronic, Low Dose Erythropoetin Beta in Ischemic Cardiomyopathy Completed NCT00568542 Phase 4 erythropoetin beta;placebo
2 Effect of Non-essential Amino Acids on Protein Requirements for Endurance Athletes Completed NCT02874638 Not Applicable
3 Does Emergence Time Relate With Emergence Agitation in Pediatric Patients? Completed NCT03358069
4 Electro-acupuncture in Knee Osteoarthritis Recruiting NCT03359603 Not Applicable
5 Efficacy of Electroacupuncture (EA) for Women With Pure Stress Urinary Incontinence (SUI) Completed NCT02445573 Not Applicable
6 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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

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

GO Terms for Episodic Ataxia, Type 3

Sources for Episodic Ataxia, Type 3

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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