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 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G11.8
Orphanet 58 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. Affiliated tissues include eye, and related phenotype is nervous system.

Related Diseases for Hereditary Episodic Ataxia

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
Hereditary Episodic Ataxia

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 episodic ataxia, type 2 32.1 KCNA1 CACNA1A
2 episodic ataxia, type 1 29.6 KCNA1 CACNA1A
3 aceruloplasminemia 28.7 SLC1A3 KCNA1 CACNA1A
4 episodic ataxia 28.6 SLC1A3 SCN2A KCNA1 CACNA1A
5 ataxia and polyneuropathy, adult-onset 10.1
6 central nervous system origin vertigo 10.0 SCN2A CACNA1A
7 familial periodic paralysis 9.9 SCN2A CACNA1A
8 childhood electroclinical syndrome 9.9 SCN2A CACNA1A
9 episodic ataxia, type 7 9.9 KCNA1 CACNA1A
10 hypokalemic periodic paralysis, type 1 9.9 SCN2A CACNA1A
11 seizures, benign familial neonatal, 1 9.9
12 pathologic nystagmus 9.9
13 benign familial infantile epilepsy 9.9 SCN2A CACNA1A
14 benign familial neonatal epilepsy 9.9 SCN2A KCNA1
15 spinocerebellar ataxia 6 9.9 KCNA1 CACNA1A
16 benign neonatal seizures 9.8 SCN2A KCNA1
17 lennox-gastaut syndrome 9.8 SCN2A CACNA1A
18 benign epilepsy with centrotemporal spikes 9.7 SCN2A CACNA1A
19 autosomal dominant nocturnal frontal lobe epilepsy 9.7 SCN2A KCNA1
20 hemiplegia 9.7 SLC1A3 CACNA1A
21 alternating hemiplegia of childhood 9.6 SLC1A3 CACNA1A
22 dentatorubral-pallidoluysian atrophy 9.6 SLC1A3 CACNA1A
23 west syndrome 9.6 SCN2A CACNA1A
24 focal epilepsy 9.6 SCN2A KCNA1
25 neonatal period electroclinical syndrome 9.5 SCN2A KCNA1 CACNA1A
26 electroclinical syndrome 9.5 SCN2A KCNA1 CACNA1A
27 epileptic encephalopathy, early infantile, 6 9.5 SCN2A KCNA1 CACNA1A
28 generalized epilepsy with febrile seizures plus 9.5 SCN2A KCNA1 CACNA1A
29 epilepsy 9.5 SCN2A KCNA1 CACNA1A
30 epilepsy, myoclonic juvenile 9.5 SCN2A KCNA1 CACNA1A
31 childhood absence epilepsy 9.5 SCN2A KCNA1 CACNA1A
32 epilepsy, idiopathic generalized 9.5 SCN2A KCNA1 CACNA1A
33 early infantile epileptic encephalopathy 9.5 SCN2A KCNA1 CACNA1A
34 autosomal dominant cerebellar ataxia 9.4 KCNA1 CACNA1A
35 familial hemiplegic migraine 9.3 SLC1A3 KCNA1 CACNA1A
36 hereditary ataxia 9.3 SLC1A3 KCNA1 CACNA1A
37 autism 9.2 SLC1A3 SCN2A CACNA1A
38 migraine with or without aura 1 8.9 SLC1A3 SCN2A KCNA1 CACNA1A

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 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

MalaCards organs/tissues related to Hereditary Episodic Ataxia:

40
Eye

Publications for Hereditary Episodic Ataxia

Articles related to Hereditary Episodic Ataxia:

# Title Authors PMID Year
1
[Treatment options for nystagmus]. 61
25121801 2015
2
[Hereditary episodic ataxia]. 61
21492892 2011
3
Late onset hereditary episodic ataxia. 61
19372292 2009
4
Hereditary episodic ataxias. 61
18990130 2008
5
Diagnosis and management of acute movement disorders. 61
16208529 2005

Variations for Hereditary Episodic Ataxia

ClinVar genetic disease variations for Hereditary Episodic Ataxia:

6 (show top 50) (show all 273) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN2A NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)SNV Pathogenic/Likely pathogenic 206978 rs796053124 2:166210742-166210742 2:165354232-165354232
2 CACNB4 NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe)SNV Conflicting interpretations of pathogenicity 193120 rs200092211 2:152955521-152955521 2:152099007-152099007
3 CACNB4 NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg)SNV Conflicting interpretations of pathogenicity 204939 rs200662010 2:152955482-152955482 2:152098968-152098968
4 CACNB4 NM_000726.4(CACNB4):c.8C>T (p.Ser3Phe)SNV Conflicting interpretations of pathogenicity 204938 rs542973906 2:152955518-152955518 2:152099004-152099004
5 SLC1A3 NM_004172.5(SLC1A3):c.212A>G (p.Tyr71Cys)SNV Conflicting interpretations of pathogenicity 353309 rs573483474 5:36629582-36629582 5:36629480-36629480
6 SLC1A3 NM_004172.5(SLC1A3):c.676C>G (p.Arg226Gly)SNV Conflicting interpretations of pathogenicity 353314 rs201069745 5:36677102-36677102 5:36677000-36677000
7 KCNA1 NM_000217.3(KCNA1):c.1464G>A (p.Lys488=)SNV Conflicting interpretations of pathogenicity 309148 rs147828649 12:5022008-5022008 12:4912842-4912842
8 KCNA1 NM_000217.3(KCNA1):c.*234A>TSNV Uncertain significance 309153 rs886049514 12:5022266-5022266 12:4913100-4913100
9 KCNA1 NM_000217.3(KCNA1):c.*486G>CSNV Uncertain significance 309155 rs764863360 12:5022518-5022518 12:4913352-4913352
10 KCNA1 NM_000217.3(KCNA1):c.*511A>GSNV Uncertain significance 309156 rs886049515 12:5022543-5022543 12:4913377-4913377
11 KCNA1 NM_000217.3(KCNA1):c.*724G>ASNV Uncertain significance 309159 rs886049516 12:5022756-5022756 12:4913590-4913590
12 KCNA1 NM_000217.3(KCNA1):c.*883T>GSNV Uncertain significance 309163 rs756451969 12:5022915-5022915 12:4913749-4913749
13 KCNA1 NM_000217.3(KCNA1):c.*965A>TSNV Uncertain significance 309165 rs886049518 12:5022997-5022997 12:4913831-4913831
14 KCNA1 NM_000217.3(KCNA1):c.*1012A>TSNV Uncertain significance 309166 rs886049519 12:5023044-5023044 12:4913878-4913878
15 SLC1A3 NM_004172.5(SLC1A3):c.860+9T>CSNV Uncertain significance 353317 rs886060543 5:36677295-36677295 5:36677193-36677193
16 SLC1A3 NM_004172.5(SLC1A3):c.*313dupduplication Uncertain significance 353332 rs886060544 5:36686677-36686678 5:36686575-36686576
17 KCNA1 NM_000217.3(KCNA1):c.-1040G>TSNV Uncertain significance 309123 rs886049498 12:5019138-5019138 12:4909972-4909972
18 KCNA1 NM_000217.3(KCNA1):c.-968C>TSNV Uncertain significance 309125 rs886049500 12:5019210-5019210 12:4910044-4910044
19 KCNA1 NM_000217.3(KCNA1):c.-300_-298ACA[3]short repeat Uncertain significance 309136 rs886049506 12:5020244-5020246 12:4911078-4911080
20 KCNA1 NM_000217.3(KCNA1):c.412A>C (p.Lys138Gln)SNV Uncertain significance 309145 rs886049511 12:5020956-5020956 12:4911790-4911790
21 KCNA1 NM_000217.3(KCNA1):c.*2278dupduplication Uncertain significance 309184 rs397724146 12:5024303-5024304 12:4915137-4915138
22 KCNA1 NM_000217.3(KCNA1):c.*3268C>TSNV Uncertain significance 309200 rs886049528 12:5025300-5025300 12:4916134-4916134
23 KCNA1 NM_000217.3(KCNA1):c.*3316T>CSNV Uncertain significance 309201 rs886049529 12:5025348-5025348 12:4916182-4916182
24 KCNA1 NM_000217.3(KCNA1):c.*4152A>GSNV Uncertain significance 309207 rs886049531 12:5026184-5026184 12:4917018-4917018
25 KCNA1 NM_000217.3(KCNA1):c.*4289T>ASNV Uncertain significance 309211 rs886049534 12:5026321-5026321 12:4917155-4917155
26 KCNA1 NM_000217.3(KCNA1):c.*4718C>TSNV Uncertain significance 309216 rs886049536 12:5026750-5026750 12:4917584-4917584
27 KCNA1 NM_000217.3(KCNA1):c.*5139dupduplication Uncertain significance 309221 rs753752185 12:5027165-5027166 12:4917999-4918000
28 KCNA1 NM_000217.3(KCNA1):c.*2758G>ASNV Uncertain significance 309194 rs886049525 12:5024790-5024790 12:4915624-4915624
29 KCNA1 NM_000217.3(KCNA1):c.-1034C>TSNV Uncertain significance 309124 rs886049499 12:5019144-5019144 12:4909978-4909978
30 KCNA1 NM_000217.3(KCNA1):c.-230C>GSNV Uncertain significance 309138 rs886049507 12:5020315-5020315 12:4911149-4911149
31 KCNA1 NM_000217.3(KCNA1):c.*592C>ASNV Uncertain significance 309158 rs144000949 12:5022624-5022624 12:4913458-4913458
32 KCNA1 NM_000217.3(KCNA1):c.*1444_*1447CAAA[4]short repeat Uncertain significance 309169 rs138257860 12:5023476-5023479 12:4914310-4914313
33 KCNA1 NM_000217.3(KCNA1):c.*2245C>GSNV Uncertain significance 309183 rs76258625 12:5024277-5024277 12:4915111-4915111
34 KCNA1 NM_000217.3(KCNA1):c.*3185deldeletion Uncertain significance 309198 rs886049526 12:5025217-5025217 12:4916051-4916051
35 KCNA1 NM_000217.3(KCNA1):c.*3503C>TSNV Uncertain significance 309203 rs532649581 12:5025535-5025535 12:4916369-4916369
36 KCNA1 NM_000217.3(KCNA1):c.*4926G>ASNV Uncertain significance 309218 rs886049537 12:5026958-5026958 12:4917792-4917792
37 KCNA1 NM_000217.3(KCNA1):c.*5136A>GSNV Uncertain significance 309222 rs886049540 12:5027168-5027168 12:4918002-4918002
38 KCNA1 NM_000217.3(KCNA1):c.*4303A>TSNV Uncertain significance 309212 rs886049535 12:5026335-5026335 12:4917169-4917169
39 KCNA1 NM_000217.3(KCNA1):c.-27C>TSNV Uncertain significance 309142 rs886049508 12:5020518-5020518 12:4911352-4911352
40 KCNA1 NM_000217.3(KCNA1):c.1364T>A (p.Met455Lys)SNV Uncertain significance 309147 rs886049512 12:5021908-5021908 12:4912742-4912742
41 KCNA1 NM_000217.3(KCNA1):c.*88G>ASNV Uncertain significance 309149 rs886049513 12:5022120-5022120 12:4912954-4912954
42 KCNA1 NM_000217.3(KCNA1):c.*804C>ASNV Uncertain significance 309161 rs886049517 12:5022836-5022836 12:4913670-4913670
43 KCNA1 NM_000217.3(KCNA1):c.*829A>GSNV Uncertain significance 309162 rs777685914 12:5022861-5022861 12:4913695-4913695
44 KCNA1 NM_000217.3(KCNA1):c.*1504G>ASNV Uncertain significance 309171 rs770664473 12:5023536-5023536 12:4914370-4914370
45 KCNA1 NM_000217.3(KCNA1):c.*3176A>TSNV Uncertain significance 309197 rs181233186 12:5025208-5025208 12:4916042-4916042
46 KCNA1 NM_000217.3(KCNA1):c.*2000C>TSNV Uncertain significance 309178 rs886049522 12:5024032-5024032 12:4914866-4914866
47 KCNA1 NM_000217.3(KCNA1):c.*4903C>GSNV Uncertain significance 309217 rs760686126 12:5026935-5026935 12:4917769-4917769
48 KCNA1 NM_000217.3(KCNA1):c.*5106C>GSNV Uncertain significance 309220 rs886049538 12:5027138-5027138 12:4917972-4917972
49 KCNA1 NM_000217.3(KCNA1):c.*5274A>GSNV Uncertain significance 309228 rs886049541 12:5027306-5027306 12:4918140-4918140
50 KCNA1 NM_000217.3(KCNA1):c.-684G>TSNV Uncertain significance 309130 rs886049502 12:5019494-5019494 12:4910328-4910328

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
11.27 SLC1A3 CACNA1A
4
Show member pathways
11.05 SCN2A 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 cell projection GO:0042995 9.54 SLC1A3 KCNA1 CACNA1A
2 synapse GO:0045202 9.5 SLC1A3 KCNA1 CACNA1A
3 neuronal cell body GO:0043025 9.33 SLC1A3 KCNA1 CACNA1A
4 integral component of presynaptic membrane GO:0099056 9.26 SCN2A KCNA1
5 glutamatergic synapse GO:0098978 9.13 SCN2A KCNA1 CACNA1A
6 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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