EA8
MCID: EPS033
MIFTS: 21

Episodic Ataxia, Type 8 (EA8)

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

Aliases & Classifications for Episodic Ataxia, Type 8

MalaCards integrated aliases for Episodic Ataxia, Type 8:

Name: Episodic Ataxia, Type 8 58 30
Episodic Ataxia Type 8 12 60
Episodic Ataxia with Slurred Speech 60
Ea8 58

Characteristics:

Orphanet epidemiological data:

60
episodic ataxia with slurred speech
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
nonprogressive
favorable response to clonazepam
onset around age 2 years
variable frequency (2 per day up to 1 per month)
variable duration (minutes to hours)
frequency of attacks may decrease with age or during pregnancy
one large 3-generation irish family has been reported (last curated october 2014)


HPO:

33
episodic ataxia, type 8:
Onset and clinical course nonprogressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050996
OMIM 58 616055
ICD10 via Orphanet 35 G11.8
Orphanet 60 ORPHA401953
MedGen 43 C4015108

Summaries for Episodic Ataxia, Type 8

Disease Ontology : 12 An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has material basis in autosomal dominant inheritance of mutation in the UBR4 gene.

MalaCards based summary : Episodic Ataxia, Type 8, also known as episodic ataxia type 8, is related to episodic ataxia. An important gene associated with Episodic Ataxia, Type 8 is EA8 (Episodic Ataxia, Type 8). Affiliated tissues include eye, and related phenotypes are muscle weakness and slurred speech

Description from OMIM: 616055

Related Diseases for Episodic Ataxia, Type 8

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 8 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 8

Human phenotypes related to Episodic Ataxia, Type 8:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 slurred speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0001350
3 postural instability 60 33 hallmark (90%) Very frequent (99-80%) HP:0002172
4 nystagmus 60 33 occasional (7.5%) Frequent (79-30%) HP:0000639
5 dysarthria 60 33 occasional (7.5%) Frequent (79-30%) HP:0001260
6 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
7 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
8 migraine 60 33 occasional (7.5%) Occasional (29-5%) HP:0002076
9 myokymia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002411
10 intention tremor 33 occasional (7.5%) HP:0002080
11 ataxia 33 HP:0001251
12 episodic ataxia 33 HP:0002131
13 abnormal involuntary eye movements 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia, episodic
intention tremor (in some patients)
slurred speech, episodic
dysarthria, mild (in some patients)
myokymia (in some patients)

Muscle Soft Tissue:
muscle weakness, episodic

Head And Neck Eyes:
nystagmus (in some patients)
twitching around the eyes, episodic

Clinical features from OMIM:

616055

Drugs & Therapeutics for Episodic Ataxia, Type 8

Search Clinical Trials , NIH Clinical Center for Episodic Ataxia, Type 8

Genetic Tests for Episodic Ataxia, Type 8

Genetic tests related to Episodic Ataxia, Type 8:

# Genetic test Affiliating Genes
1 Episodic Ataxia, Type 8 30

Anatomical Context for Episodic Ataxia, Type 8

MalaCards organs/tissues related to Episodic Ataxia, Type 8:

42
Eye

Publications for Episodic Ataxia, Type 8

Variations for Episodic Ataxia, Type 8

Expression for Episodic Ataxia, Type 8

Search GEO for disease gene expression data for Episodic Ataxia, Type 8.

Pathways for Episodic Ataxia, Type 8

GO Terms for Episodic Ataxia, Type 8

Sources for Episodic Ataxia, Type 8

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
Content
Loading form....