EA7
MCID: EPS015
MIFTS: 28

Episodic Ataxia, Type 7 (EA7)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Ataxia, Type 7

MalaCards integrated aliases for Episodic Ataxia, Type 7:

Name: Episodic Ataxia, Type 7 57 29 13
Episodic Ataxia Type 7 12 58 15
Ea7 57

Characteristics:

Orphanet epidemiological data:

58
episodic ataxia type 7
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset before age 20 years
symptoms precipitated by exercise and excitement
episode frequency is monthly to yearly, and decreases with age


HPO:

31
episodic ataxia, type 7:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050995
OMIM® 57 611907
OMIM Phenotypic Series 57 PS160120
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 71 C2677843
Orphanet 58 ORPHA209970
MedGen 41 C2677843

Summaries for Episodic Ataxia, Type 7

Disease Ontology : 12 An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has material basis in autosomal dominant inheritance.

MalaCards based summary : Episodic Ataxia, Type 7, also known as episodic ataxia type 7, is related to episodic ataxia and benign paroxysmal positional nystagmus. An important gene associated with Episodic Ataxia, Type 7 is EA7 (Episodic Ataxia, Type 7), and among its related pathways/superpathways is Synaptic vesicle cycle. Related phenotypes are dysarthria and muscle weakness

More information from OMIM: 611907 PS160120

Related Diseases for Episodic Ataxia, Type 7

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 episodic ataxia 30.8 KCNA1 EA7 CACNA1A
2 benign paroxysmal positional nystagmus 9.8 RERGL CACNA1A
3 hereditary episodic ataxia 9.8 KCNA1 CACNA1A
4 episodic ataxia, type 1 9.8 KCNA1 CACNA1A
5 migraine, familial hemiplegic, 1 9.8 KCNA1 CACNA1A
6 spinocerebellar ataxia 6 9.8 KCNA1 CACNA1A
7 neonatal period electroclinical syndrome 9.8 KCNA1 CACNA1A
8 episodic ataxia, type 2 9.7 KCNA1 CACNA1A
9 early myoclonic encephalopathy 9.7 KCNA1 CACNA1A
10 epilepsy, myoclonic juvenile 9.7 KCNA1 CACNA1A
11 generalized epilepsy with febrile seizures plus 9.7 KCNA1 CACNA1A
12 episodic ataxia, type 4 9.7 RERGL CPQ ATP6V0E1
13 dravet syndrome 9.7 KCNA1 CACNA1A
14 epilepsy, idiopathic generalized 9.6 KCNA1 CACNA1A
15 hereditary ataxia 9.6 KCNA1 CACNA1A
16 migraine, familial hemiplegic, 3 9.5 KCNA1 CPQ CACNA1A
17 familial hemiplegic migraine 9.5 KCNA1 CPQ CACNA1A
18 migraine with aura 9.5 KCNA1 CPQ CACNA1A
19 migraine with or without aura 1 9.5 KCNA1 CPQ CACNA1A
20 childhood absence epilepsy 9.5 KCNA1 CACNA1A
21 episodic ataxia, type 3 9.2 RERGL CPQ CACNA1A ATP6V0E1
22 episodic ataxia, type 5 9.2 RERGL CPQ CACNA1A ATP6V0E1

Graphical network of the top 20 diseases related to Episodic Ataxia, Type 7:



Diseases related to Episodic Ataxia, Type 7

Symptoms & Phenotypes for Episodic Ataxia, Type 7

Human phenotypes related to Episodic Ataxia, Type 7:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001260
2 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
3 vertigo 58 31 hallmark (90%) Very frequent (99-80%) HP:0002321
4 episodic ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002131
5 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
6 diplopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000651
7 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
8 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
9 tinnitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000360
10 hyperkinetic movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0002487
11 myokymia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002411

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
vertigo
weakness
ataxia, episodic (episodes last from hours to days)
normal interictal neurologic examination

Clinical features from OMIM®:

611907 (Updated 05-Apr-2021)

Drugs & Therapeutics for Episodic Ataxia, Type 7

Search Clinical Trials , NIH Clinical Center for Episodic Ataxia, Type 7

Genetic Tests for Episodic Ataxia, Type 7

Genetic tests related to Episodic Ataxia, Type 7:

# Genetic test Affiliating Genes
1 Episodic Ataxia, Type 7 29

Anatomical Context for Episodic Ataxia, Type 7

Publications for Episodic Ataxia, Type 7

Articles related to Episodic Ataxia, Type 7:

# Title Authors PMID Year
1
A new episodic ataxia syndrome with linkage to chromosome 19q13. 57
17502476 2007
2
Recent advances in the genetics of recurrent vertigo and vestibulopathy. 61
18180645 2008

Variations for Episodic Ataxia, Type 7

Expression for Episodic Ataxia, Type 7

Search GEO for disease gene expression data for Episodic Ataxia, Type 7.

Pathways for Episodic Ataxia, Type 7

Pathways related to Episodic Ataxia, Type 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.74 CACNA1A ATP6V0E1

GO Terms for Episodic Ataxia, Type 7

Cellular components related to Episodic Ataxia, Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 presynapse GO:0098793 8.62 KCNA1 CACNA1A

Biological processes related to Episodic Ataxia, Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.16 KCNA1 CACNA1A
2 ion transport GO:0006811 9.13 KCNA1 CACNA1A ATP6V0E1
3 transmembrane transport GO:0055085 8.8 KCNA1 CACNA1A ATP6V0E1

Molecular functions related to Episodic Ataxia, Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.96 KCNA1 CACNA1A
2 voltage-gated ion channel activity GO:0005244 8.62 KCNA1 CACNA1A

Sources for Episodic Ataxia, Type 7

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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