EA6
MCID: EPS017
MIFTS: 38

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 57 29 13 6
Episodic Ataxia Type 6 12 59 15
Ea6 57 75
Ataxia, Episodic, Type 6 40
Episodic Ataxia 6 75
Ea-6 75

Characteristics:

Orphanet epidemiological data:

59
episodic ataxia type 6
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:

32
episodic ataxia, type 6:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Episodic Ataxia, Type 6

UniProtKB/Swiss-Prot : 75 Episodic ataxia 6: A disorder characterized by episodic ataxia, seizures, migraine and alternating hemiplegia.

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 Circadian entrainment and Neuroscience. Affiliated tissues include eye and temporal lobe, and related phenotypes are diplopia and seizures

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Episodic Ataxia, Type 6:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diplopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000651
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
5 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
6 slurred speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0001350
7 reduced visual acuity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007663
8 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
9 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
10 phonophobia 59 32 frequent (33%) Frequent (79-30%) HP:0002183
11 cerebellar atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001272
12 hemiplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002301
13 gaze-evoked nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000640
14 nystagmus 32 occasional (7.5%) HP:0000639
15 dysarthria 32 HP:0001260
16 vomiting 32 HP:0002013
17 motor delay 32 HP:0001270
18 cerebellar hypoplasia 32 HP:0001321
19 truncal ataxia 32 HP:0002078
20 headache 59 Occasional (29-5%)
21 generalized hypotonia 32 HP:0001290
22 hemiparesis 32 HP:0001269
23 hypometric saccades 32 occasional (7.5%) HP:0000571
24 nausea 32 HP:0002018
25 episodic ataxia 32 HP:0002131

MGI Mouse Phenotypes related to Episodic Ataxia, Type 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 CACNA1A SLC1A1 SLC1A3

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 29 SLC1A3

Anatomical Context for Episodic Ataxia, Type 6

MalaCards organs/tissues related to Episodic Ataxia, Type 6:

41
Eye, Temporal Lobe

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:

75
# 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

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 neuronal cell body GO:0043025 8.62 CACNA1A SLC1A3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.67 CACNA1A SLC1A1 SLC1A3
2 transmembrane transport GO:0055085 9.63 CACNA1A SLC1A1 SLC1A3
3 chloride transmembrane transport GO:1902476 9.51 SLC1A1 SLC1A3
4 chemical synaptic transmission GO:0007268 9.5 CACNA1A SLC1A1 SLC1A3
5 amino acid transport GO:0006865 9.48 SLC1A1 SLC1A3
6 neuromuscular process controlling balance GO:0050885 9.43 CACNA1A SLC1A3
7 glutamate secretion GO:0014047 9.4 SLC1A1 SLC1A3
8 L-glutamate transmembrane transport GO:0015813 9.37 SLC1A1 SLC1A3
9 L-glutamate import across plasma membrane GO:0098712 9.26 SLC1A1 SLC1A3
10 D-aspartate import across plasma membrane GO:0070779 9.16 SLC1A1 SLC1A3
11 L-glutamate import GO:0051938 8.96 SLC1A1 SLC1A3
12 L-aspartate import across plasma membrane GO:0140009 8.62 SLC1A1 SLC1A3

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 9.37 SLC1A1 SLC1A3
2 amino acid transmembrane transporter activity GO:0015171 9.32 SLC1A1 SLC1A3
3 L-glutamate transmembrane transporter activity GO:0005313 9.26 SLC1A1 SLC1A3
4 glutamate binding GO:0016595 9.16 SLC1A1 SLC1A3
5 high-affinity glutamate transmembrane transporter activity GO:0005314 8.96 SLC1A1 SLC1A3
6 glutamate:sodium symporter activity GO:0015501 8.62 SLC1A1 SLC1A3

Sources for Episodic Ataxia, Type 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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