EA5
MCID: EPS034
MIFTS: 20

Episodic Ataxia, Type 5 (EA5)

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

Aliases & Classifications for Episodic Ataxia, Type 5

MalaCards integrated aliases for Episodic Ataxia, Type 5:

Name: Episodic Ataxia, Type 5 57 29 13 6
Episodic Ataxia Type 5 12 59
Ea5 57 75
Ataxia, Episodic, Type 5 40
Episodic Ataxia 5 75
Ea-5 75

Characteristics:

Orphanet epidemiological data:

59
episodic ataxia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
favorable response to treatment with acetazolamide
one family of french-canadian descent has been reported (last curated november 2016)
young-adult onset


HPO:

32
episodic ataxia, type 5:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613855
Disease Ontology 12 DOID:0050993
Orphanet 59 ORPHA211067
ICD10 via Orphanet 34 G11.8
UMLS via Orphanet 74 C1866039
MedGen 42 C1866039
MeSH 44 D001259

Summaries for Episodic Ataxia, Type 5

UniProtKB/Swiss-Prot : 75 Episodic ataxia 5: A disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia.

MalaCards based summary : Episodic Ataxia, Type 5, is also known as episodic ataxia type 5. An important gene associated with Episodic Ataxia, Type 5 is CACNB4 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4). Affiliated tissues include eye, and related phenotypes are dysarthria and vertigo

Description from OMIM: 613855

Related Diseases for Episodic Ataxia, Type 5

Symptoms & Phenotypes for Episodic Ataxia, Type 5

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus

Head And Neck Ears:
vertigo, episodic

Neurologic Central Nervous System:
dysarthria
ataxia, episodic


Clinical features from OMIM:

613855

Human phenotypes related to Episodic Ataxia, Type 5:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
2 vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0002321
3 truncal ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002078
4 postural instability 59 32 frequent (33%) Frequent (79-30%) HP:0002172
5 gaze-evoked nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000640
6 ataxia 59 Frequent (79-30%)
7 episodic ataxia 32 HP:0002131

Drugs & Therapeutics for Episodic Ataxia, Type 5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Episodic Ataxia, Type 5

Genetic Tests for Episodic Ataxia, Type 5

Genetic tests related to Episodic Ataxia, Type 5:

# Genetic test Affiliating Genes
1 Episodic Ataxia, Type 5 29 CACNB4

Anatomical Context for Episodic Ataxia, Type 5

MalaCards organs/tissues related to Episodic Ataxia, Type 5:

41
Eye

Publications for Episodic Ataxia, Type 5

Variations for Episodic Ataxia, Type 5

UniProtKB/Swiss-Prot genetic disease variations for Episodic Ataxia, Type 5:

75
# Symbol AA change Variation ID SNP ID
1 CACNB4 p.Cys104Phe VAR_013669 rs1805031

ClinVar genetic disease variations for Episodic Ataxia, Type 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh37 Chromosome 2, 152737393: 152737393
2 CACNB4 NM_000726.4(CACNB4): c.311G> T (p.Cys104Phe) single nucleotide variant risk factor rs1805031 GRCh38 Chromosome 2, 151880879: 151880879
3 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh37 Chromosome 2, 152955521: 152955521
4 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 GRCh38 Chromosome 2, 152099007: 152099007
5 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh37 Chromosome 2, 152955482: 152955482
6 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 GRCh38 Chromosome 2, 152098968: 152098968

Expression for Episodic Ataxia, Type 5

Search GEO for disease gene expression data for Episodic Ataxia, Type 5.

Pathways for Episodic Ataxia, Type 5

GO Terms for Episodic Ataxia, Type 5

Sources for Episodic Ataxia, Type 5

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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