EA5
MCID: EPS034
MIFTS: 23

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 58 30 13 6
Episodic Ataxia Type 5 12 60
Ea5 58 76
Ataxia, Episodic, Type 5 41
Episodic Ataxia 5 76
Ea-5 76

Characteristics:

Orphanet epidemiological data:

60
episodic ataxia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
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:

33
episodic ataxia, type 5:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050993
OMIM 58 613855
MeSH 45 D001259
ICD10 via Orphanet 35 G11.8
UMLS via Orphanet 75 C1866039
Orphanet 60 ORPHA211067
MedGen 43 C1866039

Summaries for Episodic Ataxia, Type 5

UniProtKB/Swiss-Prot : 76 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

Disease Ontology : 12 An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has material basis in autosomal dominant inheritance of mutation in the CACNB4 gene.

Description from OMIM: 613855

Related Diseases for Episodic Ataxia, Type 5

Symptoms & Phenotypes for Episodic Ataxia, Type 5

Human phenotypes related to Episodic Ataxia, Type 5:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
2 vertigo 60 33 frequent (33%) Frequent (79-30%) HP:0002321
3 truncal ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002078
4 postural instability 60 33 frequent (33%) Frequent (79-30%) HP:0002172
5 gaze-evoked nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000640
6 ataxia 60 Frequent (79-30%)
7 episodic ataxia 33 HP:0002131

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus

Head And Neck Ears:
vertigo, episodic

Neurologic Central Nervous System:
dysarthria
ataxia, episodic

Clinical features from OMIM:

613855

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 30 CACNB4

Anatomical Context for Episodic Ataxia, Type 5

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

42
Eye

Publications for Episodic Ataxia, Type 5

Articles related to Episodic Ataxia, Type 5:

# Title Authors Year
1
Neuronal adhesion and growth on nanopatterned EA5-POPC synthetic membranes. ( 29498734 )
2018
2
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ( 20050888 )
2010
3
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. ( 10762541 )
2000
4
Studies on antitumor polysaccharides of Flammulina velutipes (Curt. ex Fr.) Sing.II. The structure of EA3 and further purification of EA5. ( 6891400 )
1982

Variations for Episodic Ataxia, Type 5

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

76
# 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
7 CACNB4 NM_000726.4(CACNB4): c.91A> C (p.Ser31Arg) single nucleotide variant Uncertain significance rs773391545 GRCh37 Chromosome 2, 152954900: 152954900
8 CACNB4 NM_000726.4(CACNB4): c.91A> C (p.Ser31Arg) single nucleotide variant Uncertain significance rs773391545 GRCh38 Chromosome 2, 152098386: 152098386

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 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
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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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