MCID: HRD212
MIFTS: 27

Hereditary Episodic Ataxia

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

Aliases & Classifications for Hereditary Episodic Ataxia

MalaCards integrated aliases for Hereditary Episodic Ataxia:

Name: Hereditary Episodic Ataxia 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G11.8
Orphanet 59 ORPHA211062

Summaries for Hereditary Episodic Ataxia

MalaCards based summary : Hereditary Episodic Ataxia is related to episodic ataxia, type 2 and episodic ataxia, type 1. An important gene associated with Hereditary Episodic Ataxia is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2), and among its related pathways/superpathways are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. Related phenotypes are behavior/neurological and nervous system

Related Diseases for Hereditary Episodic Ataxia

Graphical network of the top 20 diseases related to Hereditary Episodic Ataxia:



Diseases related to Hereditary Episodic Ataxia

Symptoms & Phenotypes for Hereditary Episodic Ataxia

MGI Mouse Phenotypes related to Hereditary Episodic Ataxia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.26 CACNA1A KCNA1 SCN2A SLC1A3
2 nervous system MP:0003631 8.92 CACNA1A KCNA1 SCN2A SLC1A3

Drugs & Therapeutics for Hereditary Episodic Ataxia

Search Clinical Trials , NIH Clinical Center for Hereditary Episodic Ataxia

Genetic Tests for Hereditary Episodic Ataxia

Anatomical Context for Hereditary Episodic Ataxia

Publications for Hereditary Episodic Ataxia

Articles related to Hereditary Episodic Ataxia:

# Title Authors PMID Year
1
[Treatment options for nystagmus]. 38
25121801 2015
2
[Hereditary episodic ataxia]. 38
21492892 2011
3
Late onset hereditary episodic ataxia. 38
19372292 2009
4
Hereditary episodic ataxias. 38
18990130 2008
5
Diagnosis and management of acute movement disorders. 38
16208529 2005

Variations for Hereditary Episodic Ataxia

ClinVar genetic disease variations for Hereditary Episodic Ataxia:

6 (show top 50) (show all 273)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN2A NM_001040142.2(SCN2A): c.2960G> T (p.Ser987Ile) single nucleotide variant Pathogenic/Likely pathogenic rs796053124 2:166210742-166210742 2:165354232-165354232
2 CACNB4 NM_000726.4(CACNB4): c.5C> T (p.Ser2Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs200092211 2:152955521-152955521 2:152099007-152099007
3 CACNB4 NM_000726.4(CACNB4): c.44C> G (p.Pro15Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200662010 2:152955482-152955482 2:152098968-152098968
4 CACNB4 NM_000726.4(CACNB4): c.8C> T (p.Ser3Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs542973906 2:152955518-152955518 2:152099004-152099004
5 SLC1A3 NM_004172.5(SLC1A3): c.212A> G (p.Tyr71Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs573483474 5:36629582-36629582 5:36629480-36629480
6 SLC1A3 NM_004172.5(SLC1A3): c.676C> G (p.Arg226Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201069745 5:36677102-36677102 5:36677000-36677000
7 KCNA1 NM_000217.3(KCNA1): c.1464G> A (p.Lys488=) single nucleotide variant Conflicting interpretations of pathogenicity rs147828649 12:5022008-5022008 12:4912842-4912842
8 KCNA1 NM_000217.3(KCNA1): c.*234A> T single nucleotide variant Uncertain significance rs886049514 12:5022266-5022266 12:4913100-4913100
9 KCNA1 NM_000217.3(KCNA1): c.*486G> C single nucleotide variant Uncertain significance rs764863360 12:5022518-5022518 12:4913352-4913352
10 KCNA1 NM_000217.3(KCNA1): c.*511A> G single nucleotide variant Uncertain significance rs886049515 12:5022543-5022543 12:4913377-4913377
11 KCNA1 NM_000217.3(KCNA1): c.*724G> A single nucleotide variant Uncertain significance rs886049516 12:5022756-5022756 12:4913590-4913590
12 KCNA1 NM_000217.3(KCNA1): c.*883T> G single nucleotide variant Uncertain significance rs756451969 12:5022915-5022915 12:4913749-4913749
13 KCNA1 NM_000217.3(KCNA1): c.*965A> T single nucleotide variant Uncertain significance rs886049518 12:5022997-5022997 12:4913831-4913831
14 KCNA1 NM_000217.3(KCNA1): c.*1012A> T single nucleotide variant Uncertain significance rs886049519 12:5023044-5023044 12:4913878-4913878
15 KCNA1 NM_000217.3(KCNA1): c.*2278dup duplication Uncertain significance rs397724146 12:5024310-5024310 12:4915144-4915144
16 KCNA1 NM_000217.3(KCNA1): c.*2758G> A single nucleotide variant Uncertain significance rs886049525 12:5024790-5024790 12:4915624-4915624
17 KCNA1 NM_000217.3(KCNA1): c.*3268C> T single nucleotide variant Uncertain significance rs886049528 12:5025300-5025300 12:4916134-4916134
18 KCNA1 NM_000217.3(KCNA1): c.*3316T> C single nucleotide variant Uncertain significance rs886049529 12:5025348-5025348 12:4916182-4916182
19 KCNA1 NM_000217.3(KCNA1): c.*4152A> G single nucleotide variant Uncertain significance rs886049531 12:5026184-5026184 12:4917018-4917018
20 KCNA1 NM_000217.3(KCNA1): c.*4289T> A single nucleotide variant Uncertain significance rs886049534 12:5026321-5026321 12:4917155-4917155
21 KCNA1 NM_000217.3(KCNA1): c.*4718C> T single nucleotide variant Uncertain significance rs886049536 12:5026750-5026750 12:4917584-4917584
22 KCNA1 NM_000217.3(KCNA1): c.*5139dup duplication Uncertain significance rs753752185 12:5027171-5027171 12:4918005-4918005
23 SLC1A3 NM_004172.5(SLC1A3): c.860+9T> C single nucleotide variant Uncertain significance rs886060543 5:36677295-36677295 5:36677193-36677193
24 SLC1A3 NM_004172.5(SLC1A3): c.*313dup duplication Uncertain significance rs886060544 5:36686684-36686684 5:36686582-36686582
25 KCNA1 NM_000217.3(KCNA1): c.-1040G> T single nucleotide variant Uncertain significance rs886049498 12:5019138-5019138 12:4909972-4909972
26 KCNA1 NM_000217.3(KCNA1): c.-968C> T single nucleotide variant Uncertain significance rs886049500 12:5019210-5019210 12:4910044-4910044
27 KCNA1 NM_000217.3(KCNA1): c.-300_-298ACA[3] short repeat Uncertain significance rs886049506 12:5020254-5020256 12:4911088-4911090
28 KCNA1 NM_000217.3(KCNA1): c.412A> C (p.Lys138Gln) single nucleotide variant Uncertain significance rs886049511 12:5020956-5020956 12:4911790-4911790
29 KCNA1 NM_000217.3(KCNA1): c.-1034C> T single nucleotide variant Uncertain significance rs886049499 12:5019144-5019144 12:4909978-4909978
30 KCNA1 NM_000217.3(KCNA1): c.-230C> G single nucleotide variant Uncertain significance rs886049507 12:5020315-5020315 12:4911149-4911149
31 KCNA1 NM_000217.3(KCNA1): c.*592C> A single nucleotide variant Uncertain significance rs144000949 12:5022624-5022624 12:4913458-4913458
32 KCNA1 NM_000217.3(KCNA1): c.*1444_*1447CAAA[4] short repeat Uncertain significance rs138257860 12:5023492-5023495 12:4914326-4914329
33 KCNA1 NM_000217.3(KCNA1): c.*2245C> G single nucleotide variant Uncertain significance rs76258625 12:5024277-5024277 12:4915111-4915111
34 KCNA1 NM_000217.3(KCNA1): c.*3185del deletion Uncertain significance rs886049526 12:5025217-5025217 12:4916051-4916051
35 KCNA1 NM_000217.3(KCNA1): c.*3503C> T single nucleotide variant Uncertain significance rs532649581 12:5025535-5025535 12:4916369-4916369
36 KCNA1 NM_000217.3(KCNA1): c.*4926G> A single nucleotide variant Uncertain significance rs886049537 12:5026958-5026958 12:4917792-4917792
37 KCNA1 NM_000217.3(KCNA1): c.*5136A> G single nucleotide variant Uncertain significance rs886049540 12:5027168-5027168 12:4918002-4918002
38 KCNA1 NM_000217.3(KCNA1): c.-27C> T single nucleotide variant Uncertain significance rs886049508 12:5020518-5020518 12:4911352-4911352
39 KCNA1 NM_000217.3(KCNA1): c.1364T> A (p.Met455Lys) single nucleotide variant Uncertain significance rs886049512 12:5021908-5021908 12:4912742-4912742
40 KCNA1 NM_000217.3(KCNA1): c.*88G> A single nucleotide variant Uncertain significance rs886049513 12:5022120-5022120 12:4912954-4912954
41 KCNA1 NM_000217.3(KCNA1): c.*4303A> T single nucleotide variant Uncertain significance rs886049535 12:5026335-5026335 12:4917169-4917169
42 KCNA1 NM_000217.3(KCNA1): c.*804C> A single nucleotide variant Uncertain significance rs886049517 12:5022836-5022836 12:4913670-4913670
43 KCNA1 NM_000217.3(KCNA1): c.*829A> G single nucleotide variant Uncertain significance rs777685914 12:5022861-5022861 12:4913695-4913695
44 KCNA1 NM_000217.3(KCNA1): c.*1504G> A single nucleotide variant Uncertain significance rs770664473 12:5023536-5023536 12:4914370-4914370
45 KCNA1 NM_000217.3(KCNA1): c.*3176A> T single nucleotide variant Uncertain significance rs181233186 12:5025208-5025208 12:4916042-4916042
46 KCNA1 NM_000217.3(KCNA1): c.*2000C> T single nucleotide variant Uncertain significance rs886049522 12:5024032-5024032 12:4914866-4914866
47 KCNA1 NM_000217.3(KCNA1): c.*4903C> G single nucleotide variant Uncertain significance rs760686126 12:5026935-5026935 12:4917769-4917769
48 KCNA1 NM_000217.3(KCNA1): c.*5106C> G single nucleotide variant Uncertain significance rs886049538 12:5027138-5027138 12:4917972-4917972
49 KCNA1 NM_000217.3(KCNA1): c.-684G> T single nucleotide variant Uncertain significance rs886049502 12:5019494-5019494 12:4910328-4910328
50 KCNA1 NM_000217.3(KCNA1): c.-636G> C single nucleotide variant Uncertain significance rs886049503 12:5019542-5019542 12:4910376-4910376

Expression for Hereditary Episodic Ataxia

Search GEO for disease gene expression data for Hereditary Episodic Ataxia.

Pathways for Hereditary Episodic Ataxia

Pathways related to Hereditary Episodic Ataxia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 SLC1A3 KCNA1 CACNA1A
2 11.61 KCNA1 CACNA1A
3
Show member pathways
11.25 SCN2A CACNA1A
4
Show member pathways
11.07 SLC1A3 CACNA1A

GO Terms for Hereditary Episodic Ataxia

Cellular components related to Hereditary Episodic Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.5 SLC1A3 SCN2A KCNA1
2 cell projection GO:0042995 9.43 SLC1A3 KCNA1 CACNA1A
3 integral component of presynaptic membrane GO:0099056 9.16 SCN2A KCNA1
4 neuronal cell body GO:0043025 9.13 SLC1A3 KCNA1 CACNA1A
5 paranode region of axon GO:0033270 8.62 SCN2A KCNA1

Biological processes related to Hereditary Episodic Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 9.46 SLC1A3 KCNA1
2 regulation of membrane potential GO:0042391 9.43 KCNA1 CACNA1A
3 chemical synaptic transmission GO:0007268 9.43 SLC1A3 KCNA1 CACNA1A
4 neuromuscular process controlling balance GO:0050885 9.4 SLC1A3 CACNA1A
5 neuronal action potential GO:0019228 9.37 SCN2A KCNA1
6 regulation of ion transmembrane transport GO:0034765 9.33 SCN2A KCNA1 CACNA1A
7 neuromuscular process GO:0050905 9.32 KCNA1 CACNA1A
8 ion transport GO:0006811 9.26 SLC1A3 SCN2A KCNA1 CACNA1A
9 transmembrane transport GO:0055085 8.92 SLC1A3 SCN2A KCNA1 CACNA1A

Molecular functions related to Hereditary Episodic Ataxia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.13 SCN2A KCNA1 CACNA1A
2 voltage-gated ion channel activity GO:0005244 8.8 SCN2A KCNA1 CACNA1A

Sources for Hereditary Episodic Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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