MCID: EPS014
MIFTS: 22

Episodic Ataxia, Type 3

Categories: Neuronal diseases, Rare diseases, Genetic 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 59
Episodic Ataxia-Vertigo-Tinnitus-Myokymia Syndrome 59
Ataxia, Episodic, with Vertigo and Tinnitus 57
Ea3 57

Characteristics:

Orphanet epidemiological data:

59
episodic ataxia type 3
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
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:

32
episodic ataxia, type 3:
Inheritance autosomal dominant inheritance
Onset and clinical course onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 606554
Disease Ontology 12 DOID:0050991
Orphanet 59 ORPHA79135
UMLS via Orphanet 74 C1847839
ICD10 via Orphanet 34 G11.8
MedGen 42 C1847839

Summaries for Episodic Ataxia, Type 3

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 11.1

Symptoms & Phenotypes for Episodic Ataxia, Type 3

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Episodic Ataxia, Type 3:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 diplopia 32 HP:0000651
2 muscle weakness 32 HP:0001324
3 vomiting 32 HP:0002013
4 vertigo 32 HP:0002321
5 headache 32 HP:0002315
6 tinnitus 32 HP:0000360
7 nausea 32 HP:0002018
8 episodic ataxia 32 HP:0002131
9 myokymia 32 HP:0002411

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
4 Disinfectants Not Applicable

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 Does Emergence Time Relate With Emergence Agitation in Pediatric Patients? Completed NCT03358069
3 Efficacy of Electroacupuncture (EA) for Women With Pure Stress Urinary Incontinence (SUI) Completed NCT02445573 Not Applicable
4 Electro-acupuncture in Knee Osteoarthritis Recruiting NCT03359603 Not Applicable
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
6 Effect of Non-essential Amino Acids on Protein Requirements for Endurance Athletes Active, not recruiting NCT02874638 Not Applicable

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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