EA6
MCID: EPS017
MIFTS: 36

Episodic Ataxia, Type 6 (EA6)

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

Aliases & Classifications for Episodic Ataxia, Type 6

MalaCards integrated aliases for Episodic Ataxia, Type 6:

Name: Episodic Ataxia, Type 6 58 30 13 6
Episodic Ataxia Type 6 12 60 15
Ea6 58 76
Ataxia, Episodic, Type 6 41
Episodic Ataxia 6 76
Ea-6 76

Characteristics:

Orphanet epidemiological data:

60
episodic ataxia type 6
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or childhood
later onset has been reported
variable phenotype and severity
three unrelated families have been reported (last curated november 2016)
episodes may last several hours
episodes triggered by fever, illness, feeding, stress, exercise
favorable response to treatment with acetazolamide


HPO:

33
episodic ataxia, type 6:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Episodic Ataxia, Type 6

Disease Ontology : 12 An episodic ataxia that is characterized by nystagmus and dysarthria, and has material basis in autosomal dominant inheritance of mutation in the SLC1A3 gene.

MalaCards based summary : Episodic Ataxia, Type 6, also known as episodic ataxia type 6, is related to episodic ataxia and spinocerebellar ataxia 6. An important gene associated with Episodic Ataxia, Type 6 is SLC1A3 (Solute Carrier Family 1 Member 3), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Circadian entrainment. Related phenotypes are ataxia and nausea and vomiting

UniProtKB/Swiss-Prot : 76 Episodic ataxia 6: A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia.

Description from OMIM: 612656

Related Diseases for Episodic Ataxia, Type 6

Graphical network of the top 20 diseases related to Episodic Ataxia, Type 6:



Diseases related to Episodic Ataxia, Type 6

Symptoms & Phenotypes for Episodic Ataxia, Type 6

Human phenotypes related to Episodic Ataxia, Type 6:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
3 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
4 vertigo 60 33 hallmark (90%) Very frequent (99-80%) HP:0002321
5 phonophobia 60 33 frequent (33%) Frequent (79-30%) HP:0002183
6 diplopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000651
7 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
8 slurred speech 60 33 occasional (7.5%) Occasional (29-5%) HP:0001350
9 reduced visual acuity 60 33 occasional (7.5%) Occasional (29-5%) HP:0007663
10 migraine 60 33 occasional (7.5%) Occasional (29-5%) HP:0002076
11 cerebellar atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001272
12 hemiplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002301
13 gaze-evoked nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000640
14 nystagmus 33 occasional (7.5%) HP:0000639
15 hypometric saccades 33 occasional (7.5%) HP:0000571
16 dysarthria 33 HP:0001260
17 vomiting 33 HP:0002013
18 motor delay 33 HP:0001270
19 cerebellar hypoplasia 33 HP:0001321
20 truncal ataxia 33 HP:0002078
21 headache 60 Occasional (29-5%)
22 generalized hypotonia 33 HP:0001290
23 hemiparesis 33 HP:0001269
24 nausea 33 HP:0002018
25 episodic ataxia 33 HP:0002131

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
migraine
delayed motor development
hemiplegia, episodic
seizures (rare)
more
Head And Neck Eyes:
nystagmus (in some patients)
diplopia, episodic
photophobia, episodic
hypometric saccades (in some patients)
jerky ocular pursuit (in some patients)

Muscle Soft Tissue:
hypotonia, episodic

Abdomen Gastrointestinal:
vomiting
nausea

Head And Neck Ears:
vertigo, episodic
phonophobia, episodic

Clinical features from OMIM:

612656

Drugs & Therapeutics for Episodic Ataxia, Type 6

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 6

Genetic Tests for Episodic Ataxia, Type 6

Genetic tests related to Episodic Ataxia, Type 6:

# Genetic test Affiliating Genes
1 Episodic Ataxia, Type 6 30 SLC1A3

Anatomical Context for Episodic Ataxia, Type 6

Publications for Episodic Ataxia, Type 6

Articles related to Episodic Ataxia, Type 6:

# Title Authors Year
1
Infantile spinocerebellar ataxia type 6: relationship to episodic ataxia type 6. ( 16638506 )
2006

Variations for Episodic Ataxia, Type 6

UniProtKB/Swiss-Prot genetic disease variations for Episodic Ataxia, Type 6:

76
# Symbol AA change Variation ID SNP ID
1 SLC1A3 p.Pro290Arg VAR_031733 rs137852619

ClinVar genetic disease variations for Episodic Ataxia, Type 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC1A3 NM_004172.4(SLC1A3): c.869C> G (p.Pro290Arg) single nucleotide variant Pathogenic rs137852619 GRCh37 Chromosome 5, 36679737: 36679737
2 SLC1A3 NM_004172.4(SLC1A3): c.869C> G (p.Pro290Arg) single nucleotide variant Pathogenic rs137852619 GRCh38 Chromosome 5, 36679635: 36679635
3 SLC1A3 NM_004172.4(SLC1A3): c.556T> A (p.Cys186Ser) single nucleotide variant Pathogenic rs137852620 GRCh37 Chromosome 5, 36674182: 36674182
4 SLC1A3 NM_004172.4(SLC1A3): c.556T> A (p.Cys186Ser) single nucleotide variant Pathogenic rs137852620 GRCh38 Chromosome 5, 36674080: 36674080
5 SLC1A3 NM_004172.4(SLC1A3): c.1496G> A (p.Arg499Gln) single nucleotide variant Uncertain significance rs138085358 GRCh38 Chromosome 5, 36686136: 36686136
6 SLC1A3 NM_004172.4(SLC1A3): c.1496G> A (p.Arg499Gln) single nucleotide variant Uncertain significance rs138085358 GRCh37 Chromosome 5, 36686238: 36686238

Expression for Episodic Ataxia, Type 6

Search GEO for disease gene expression data for Episodic Ataxia, Type 6.

Pathways for Episodic Ataxia, Type 6

Pathways related to Episodic Ataxia, Type 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.67 SLC1A1 SLC1A3 SLC1A7
2
Show member pathways
12.13 CACNA1A SLC1A1 SLC1A3 SLC1A7
3
Show member pathways
11.78 CACNA1A SLC1A1 SLC1A3 SLC1A7
4
Show member pathways
11.57 SLC1A1 SLC1A3 SLC1A7
5
Show member pathways
11.44 CACNA1A SLC1A3
6
Show member pathways
11.31 SLC1A1 SLC1A3

GO Terms for Episodic Ataxia, Type 6

Cellular components related to Episodic Ataxia, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 presynapse GO:0098793 8.62 CACNA1A SLC1A7

Biological processes related to Episodic Ataxia, Type 6 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.73 CACNA1A SLC1A1 SLC1A3 SLC1A7
2 transmembrane transport GO:0055085 9.67 CACNA1A SLC1A1 SLC1A3 SLC1A7
3 chemical synaptic transmission GO:0007268 9.65 CACNA1A SLC1A1 SLC1A3
4 chloride transmembrane transport GO:1902476 9.52 SLC1A1 SLC1A3
5 amino acid transport GO:0006865 9.51 SLC1A1 SLC1A3
6 neuromuscular process controlling balance GO:0050885 9.49 CACNA1A SLC1A3
7 neurotransmitter uptake GO:0001504 9.46 SLC1A3 SLC1A7
8 L-glutamate import across plasma membrane GO:0098712 9.4 SLC1A1 SLC1A3
9 D-aspartate import across plasma membrane GO:0070779 9.32 SLC1A1 SLC1A3
10 L-glutamate import GO:0051938 9.26 SLC1A1 SLC1A3
11 L-aspartate import across plasma membrane GO:0140009 9.16 SLC1A1 SLC1A3
12 glutamate secretion GO:0014047 9.13 SLC1A1 SLC1A3 SLC1A7
13 L-glutamate transmembrane transport GO:0015813 8.8 SLC1A1 SLC1A3 SLC1A7

Molecular functions related to Episodic Ataxia, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.5 SLC1A1 SLC1A3 SLC1A7
2 glutamate binding GO:0016595 9.37 SLC1A1 SLC1A3
3 amino acid transmembrane transporter activity GO:0015171 9.33 SLC1A1 SLC1A3 SLC1A7
4 glutamate:sodium symporter activity GO:0015501 9.26 SLC1A1 SLC1A3
5 L-glutamate transmembrane transporter activity GO:0005313 9.13 SLC1A1 SLC1A3 SLC1A7
6 high-affinity glutamate transmembrane transporter activity GO:0005314 8.8 SLC1A1 SLC1A3 SLC1A7

Sources for Episodic Ataxia, Type 6

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
39 LifeMap
41 LOVD
43 MedGen
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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