EA5
MCID: EPS034
MIFTS: 38

Episodic Ataxia, Type 5 (EA5)

Categories: Genetic diseases, Muscle 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 58 15
Ea5 57 72
Ataxia, Episodic, Type 5 39
Episodic Ataxia 5 72
Ea-5 72

Characteristics:

Orphanet epidemiological data:

58
episodic ataxia type 5
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 05-Apr-2021)
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

Inheritance:
autosomal dominant


HPO:

31
episodic ataxia, type 5:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050993
OMIM® 57 613855
OMIM Phenotypic Series 57 PS160120
MeSH 44 D001259
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 71 C1866039
Orphanet 58 ORPHA211067
MedGen 41 C1866039

Summaries for Episodic Ataxia, Type 5

UniProtKB/Swiss-Prot : 72 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, also known as episodic ataxia type 5, is related to episodic ataxia and ataxia and polyneuropathy, adult-onset. An important gene associated with Episodic Ataxia, Type 5 is CACNB4 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4), and among its related pathways/superpathways are Presenilin-Mediated Signaling and Fc-GammaR Pathway. 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.

More information from OMIM: 613855 PS160120

Related Diseases for Episodic Ataxia, Type 5

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
Episodic Ataxia, Type 9 Hereditary Episodic Ataxia

Diseases related to Episodic Ataxia, Type 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 episodic ataxia 29.5 CACNB4 CACNA1A ATP1A2
2 ataxia and polyneuropathy, adult-onset 10.0
3 episodic ataxia, type 6 9.9 CACNB4 CACNA1A
4 benign paroxysmal positional nystagmus 9.8 RERGL CACNA1A
5 adolescence-adult electroclinical syndrome 9.8 CACNB4 CACNA1A
6 episodic ataxia, type 1 9.8 CACNB4 CACNA1A
7 sporadic hemiplegic migraine 9.8 CACNA1A ATP1A2
8 childhood electroclinical syndrome 9.8 CACNB4 CACNA1A
9 migraine, familial hemiplegic, 2 9.8 CACNA1A ATP1A2
10 infancy electroclinical syndrome 9.8 CACNA1A ATP1A2
11 migraine, familial hemiplegic, 1 9.8 CACNA1A ATP1A2
12 migraine without aura 9.7 CACNA1A ATP1A2
13 hemiplegia 9.7 CACNA1A ATP1A2
14 benign familial infantile epilepsy 9.7 CACNA1A ATP1A2
15 alternating hemiplegia of childhood 9.7 CACNA1A ATP1A2
16 early myoclonic encephalopathy 9.7 CACNB4 CACNA1A
17 familial or sporadic hemiplegic migraine 9.7 CACNA1A ATP1A2
18 epilepsy, myoclonic juvenile 9.6 CACNB4 CACNA1A
19 spinocerebellar ataxia 6 9.6 CACNB4 CACNA1A ATP1A2
20 episodic ataxia, type 2 9.6 CACNB4 CACNA1A ATP1A2
21 headache 9.6 CACNB4 CACNA1A ATP1A2
22 dravet syndrome 9.6 CACNB4 CACNA1A ATP1A2
23 epilepsy, idiopathic generalized 9.6 CACNB4 CACNA1A ATP1A2
24 benign epilepsy with centrotemporal spikes 9.6 CACNB4 CACNA1A ATP1A2
25 migraine, familial hemiplegic, 3 9.6 CPQ CACNA1A ATP1A2
26 familial hemiplegic migraine 9.5 CPQ CACNA1A ATP1A2
27 early infantile epileptic encephalopathy 9.5 CACNB4 CACNA1A ATP1A2
28 migraine with aura 9.5 CPQ CACNA1A ATP1A2
29 episodic ataxia, type 4 9.5 RERGL CPQ CACNB4 ATP6V0E1
30 generalized epilepsy with febrile seizures plus 9.5 CACNA1A ATP1A2
31 migraine with or without aura 1 9.3 CPQ CACNB4 CACNA1A ATP1A2
32 episodic ataxia, type 7 9.3 RERGL CPQ CACNA1A ATP6V0E1
33 episodic ataxia, type 3 9.3 RERGL CPQ CACNA1A ATP6V0E1

Graphical network of the top 20 diseases related to Episodic Ataxia, Type 5:



Diseases related to Episodic Ataxia, Type 5

Symptoms & Phenotypes for Episodic Ataxia, Type 5

Human phenotypes related to Episodic Ataxia, Type 5:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
2 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
3 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
4 truncal ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002078
5 gaze-evoked nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000640
6 ataxia 58 Frequent (79-30%)
7 episodic ataxia 31 HP:0002131

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus

Head And Neck Ears:
vertigo, episodic

Neurologic Central Nervous System:
dysarthria
ataxia, episodic

Clinical features from OMIM®:

613855 (Updated 05-Apr-2021)

Drugs & Therapeutics for Episodic Ataxia, Type 5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multicenter, Randomised Controlled Trial of Electroacupuncture Versus Sham Electroacupuncture for Urinary Retention of Poststroke Patients: a Study Protocol Terminated NCT02472288

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

Publications for Episodic Ataxia, Type 5

Articles related to Episodic Ataxia, Type 5:

# Title Authors PMID Year
1
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. 6 57
10762541 2000
2
[Episodic ataxias]. 57
16100538 2005
3
Clinical manifestations of episodic ataxia type 5. 61
32042491 2019

Variations for Episodic Ataxia, Type 5

ClinVar genetic disease variations for Episodic Ataxia, Type 5:

6 (show top 50) (show all 131)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNB4 NM_000726.4(CACNB4):c.*1952C>A SNV Uncertain significance 331592 rs764877003 GRCh37: 2:152693681-152693681
GRCh38: 2:151837167-151837167
2 CACNB4 NM_000726.4(CACNB4):c.187G>C (p.Asp63His) SNV Uncertain significance 331634 rs886054969 GRCh37: 2:152739845-152739845
GRCh38: 2:151883331-151883331
3 CACNB4 NM_000726.4(CACNB4):c.*5022A>G SNV Uncertain significance 331562 rs548177540 GRCh37: 2:152690611-152690611
GRCh38: 2:151834097-151834097
4 CACNB4 NM_000726.4(CACNB4):c.*3688G>A SNV Uncertain significance 331575 rs886054954 GRCh37: 2:152691945-152691945
GRCh38: 2:151835431-151835431
5 CACNB4 NM_000726.4(CACNB4):c.*3475A>T SNV Uncertain significance 331577 rs567549082 GRCh37: 2:152692158-152692158
GRCh38: 2:151835644-151835644
6 CACNB4 NM_000726.4(CACNB4):c.*1826A>G SNV Uncertain significance 331598 rs886054959 GRCh37: 2:152693807-152693807
GRCh38: 2:151837293-151837293
7 CACNB4 NM_000726.4(CACNB4):c.*624A>T SNV Uncertain significance 331620 rs755272601 GRCh37: 2:152695009-152695009
GRCh38: 2:151838495-151838495
8 CACNB4 NM_000726.4(CACNB4):c.*737C>T SNV Uncertain significance 331618 rs558590558 GRCh37: 2:152694896-152694896
GRCh38: 2:151838382-151838382
9 CACNB4 NM_000726.4(CACNB4):c.*5487T>C SNV Uncertain significance 331555 rs111700454 GRCh37: 2:152690146-152690146
GRCh38: 2:151833632-151833632
10 CACNB4 NM_000726.4(CACNB4):c.*6183A>G SNV Uncertain significance 331547 rs185830609 GRCh37: 2:152689450-152689450
GRCh38: 2:151832936-151832936
11 CACNB4 NM_000726.4(CACNB4):c.*5863T>G SNV Uncertain significance 331551 rs886054951 GRCh37: 2:152689770-152689770
GRCh38: 2:151833256-151833256
12 CACNB4 NM_000726.4(CACNB4):c.*592T>C SNV Uncertain significance 331621 rs779110885 GRCh37: 2:152695041-152695041
GRCh38: 2:151838527-151838527
13 CACNB4 NM_000726.4(CACNB4):c.64-4C>T SNV Uncertain significance 331636 rs886054970 GRCh37: 2:152954931-152954931
GRCh38: 2:152098417-152098417
14 CACNB4 NM_000726.4(CACNB4):c.*5977G>T SNV Uncertain significance 331550 rs886054950 GRCh37: 2:152689656-152689656
GRCh38: 2:151833142-151833142
15 CACNB4 NM_000726.4(CACNB4):c.*1110C>A SNV Uncertain significance 331611 rs147608603 GRCh37: 2:152694523-152694523
GRCh38: 2:151838009-151838009
16 CACNB4 NM_000726.5(CACNB4):c.1517G>A (p.Arg506Gln) SNV Uncertain significance 894705 GRCh37: 2:152695679-152695679
GRCh38: 2:151839165-151839165
17 CACNB4 NM_000726.5(CACNB4):c.1535A>G (p.Tyr512Cys) SNV Uncertain significance 894704 GRCh37: 2:152695661-152695661
GRCh38: 2:151839147-151839147
18 CACNB4 NM_000726.5(CACNB4):c.*1441C>T SNV Uncertain significance 894673 GRCh37: 2:152694192-152694192
GRCh38: 2:151837678-151837678
19 CACNB4 NM_000726.5(CACNB4):c.*1466T>G SNV Uncertain significance 894672 GRCh37: 2:152694167-152694167
GRCh38: 2:151837653-151837653
20 CACNB4 NM_000726.5(CACNB4):c.*3300G>A SNV Uncertain significance 894650 GRCh37: 2:152692333-152692333
GRCh38: 2:151835819-151835819
21 CACNB4 NM_000726.5(CACNB4):c.*3742C>T SNV Uncertain significance 894649 GRCh37: 2:152691891-152691891
GRCh38: 2:151835377-151835377
22 CACNB4 NM_000726.5(CACNB4):c.*5142C>T SNV Uncertain significance 894627 GRCh37: 2:152690491-152690491
GRCh38: 2:151833977-151833977
23 CACNB4 NM_000726.5(CACNB4):c.*5235T>C SNV Uncertain significance 894626 GRCh37: 2:152690398-152690398
GRCh38: 2:151833884-151833884
24 CACNB4 NM_000726.5(CACNB4):c.*5256G>A SNV Uncertain significance 894625 GRCh37: 2:152690377-152690377
GRCh38: 2:151833863-151833863
25 CACNB4 NM_000726.5(CACNB4):c.*3829C>T SNV Uncertain significance 894259 GRCh37: 2:152691804-152691804
GRCh38: 2:151835290-151835290
26 CACNB4 NM_000726.5(CACNB4):c.*3834G>C SNV Uncertain significance 894258 GRCh37: 2:152691799-152691799
GRCh38: 2:151835285-151835285
27 CACNB4 NM_000726.5(CACNB4):c.*3944A>T SNV Uncertain significance 894257 GRCh37: 2:152691689-152691689
GRCh38: 2:151835175-151835175
28 CACNB4 NM_000726.5(CACNB4):c.*4110A>G SNV Uncertain significance 894256 GRCh37: 2:152691523-152691523
GRCh38: 2:151835009-151835009
29 CACNB4 NM_000726.5(CACNB4):c.*544T>C SNV Uncertain significance 893784 GRCh37: 2:152695089-152695089
GRCh38: 2:151838575-151838575
30 CACNB4 NM_000726.5(CACNB4):c.*2001C>G SNV Uncertain significance 893756 GRCh37: 2:152693632-152693632
GRCh38: 2:151837118-151837118
31 CACNB4 NM_000726.5(CACNB4):c.*908C>T SNV Uncertain significance 893486 GRCh37: 2:152694725-152694725
GRCh38: 2:151838211-151838211
32 CACNB4 NM_000726.5(CACNB4):c.*915T>C SNV Uncertain significance 893485 GRCh37: 2:152694718-152694718
GRCh38: 2:151838204-151838204
33 CACNB4 NM_000726.5(CACNB4):c.*2170C>T SNV Uncertain significance 893448 GRCh37: 2:152693463-152693463
GRCh38: 2:151836949-151836949
34 CACNB4 NM_000726.5(CACNB4):c.*2311T>C SNV Uncertain significance 893447 GRCh37: 2:152693322-152693322
GRCh38: 2:151836808-151836808
35 CACNB4 NM_000726.5(CACNB4):c.*2509G>A SNV Uncertain significance 893446 GRCh37: 2:152693124-152693124
GRCh38: 2:151836610-151836610
36 CACNB4 NM_000726.5(CACNB4):c.*4154C>T SNV Uncertain significance 893418 GRCh37: 2:152691479-152691479
GRCh38: 2:151834965-151834965
37 CACNB4 NM_000726.5(CACNB4):c.*4330T>C SNV Uncertain significance 893417 GRCh37: 2:152691303-152691303
GRCh38: 2:151834789-151834789
38 CACNB4 NM_000726.5(CACNB4):c.*4335G>A SNV Uncertain significance 893416 GRCh37: 2:152691298-152691298
GRCh38: 2:151834784-151834784
39 CACNB4 NM_000726.5(CACNB4):c.*6071T>G SNV Uncertain significance 893390 GRCh37: 2:152689562-152689562
GRCh38: 2:151833048-151833048
40 CACNB4 NM_000726.5(CACNB4):c.399C>T (p.Asn133=) SNV Uncertain significance 892718 GRCh37: 2:152733062-152733062
GRCh38: 2:151876548-151876548
41 CACNB4 NM_000726.5(CACNB4):c.529A>G (p.Ser177Gly) SNV Uncertain significance 892717 GRCh37: 2:152729000-152729000
GRCh38: 2:151872486-151872486
42 CACNB4 NM_000726.5(CACNB4):c.*1188C>G SNV Uncertain significance 892686 GRCh37: 2:152694445-152694445
GRCh38: 2:151837931-151837931
43 CACNB4 NM_000726.5(CACNB4):c.*1228C>A SNV Uncertain significance 892685 GRCh37: 2:152694405-152694405
GRCh38: 2:151837891-151837891
44 CACNB4 NM_000726.5(CACNB4):c.*1258A>G SNV Uncertain significance 892684 GRCh37: 2:152694375-152694375
GRCh38: 2:151837861-151837861
45 CACNB4 NM_000726.5(CACNB4):c.*2968C>A SNV Uncertain significance 892644 GRCh37: 2:152692665-152692665
GRCh38: 2:151836151-151836151
46 CACNB4 NM_000726.5(CACNB4):c.*5679G>A SNV Uncertain significance 894226 GRCh37: 2:152689954-152689954
GRCh38: 2:151833440-151833440
47 CACNB4 NM_000726.5(CACNB4):c.*5854A>G SNV Uncertain significance 894225 GRCh37: 2:152689779-152689779
GRCh38: 2:151833265-151833265
48 CACNB4 NM_000726.5(CACNB4):c.*365C>G SNV Uncertain significance 893786 GRCh37: 2:152695268-152695268
GRCh38: 2:151838754-151838754
49 CACNB4 NM_000726.5(CACNB4):c.*4938G>A SNV Uncertain significance 892604 GRCh37: 2:152690695-152690695
GRCh38: 2:151834181-151834181
50 CACNB4 NM_000726.5(CACNB4):c.*5006A>G SNV Uncertain significance 892603 GRCh37: 2:152690627-152690627
GRCh38: 2:151834113-151834113

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

72
# Symbol AA change Variation ID SNP ID
1 CACNB4 p.Cys104Phe VAR_013669 rs1805031

Expression for Episodic Ataxia, Type 5

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

Pathways for Episodic Ataxia, Type 5

Pathways related to Episodic Ataxia, Type 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.52 CACNB4 CACNA1A
2
Show member pathways
11.44 CACNB4 CACNA1A
3 11.2 CACNB4 ATP1A2
4 10.92 CACNB4 CACNA1A
5
Show member pathways
10.91 CACNA1A ATP6V0E1 ATP1A2
6 10.65 CACNB4 CACNA1A

GO Terms for Episodic Ataxia, Type 5

Cellular components related to Episodic Ataxia, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel complex GO:0005891 8.62 CACNB4 CACNA1A

Biological processes related to Episodic Ataxia, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.37 CACNB4 CACNA1A
2 ion transmembrane transport GO:0034220 9.33 CACNA1A ATP6V0E1 ATP1A2
3 proton transmembrane transport GO:1902600 9.32 ATP6V0E1 ATP1A2
4 cation transmembrane transport GO:0098655 9.26 CACNA1A ATP1A2
5 membrane depolarization GO:0051899 8.96 CACNB4 CACNA1A
6 ion transport GO:0006811 8.92 CACNB4 CACNA1A ATP6V0E1 ATP1A2

Molecular functions related to Episodic Ataxia, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.16 CACNB4 CACNA1A
2 voltage-gated calcium channel activity GO:0005245 8.96 CACNB4 CACNA1A
3 high voltage-gated calcium channel activity GO:0008331 8.62 CACNB4 CACNA1A

Sources for Episodic Ataxia, Type 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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