EA7
MCID: EPS015
MIFTS: 29

Episodic Ataxia, Type 7 (EA7)

Categories: Ear diseases, Eye diseases, Genetic 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 59 15
Ea7 57

Characteristics:

Orphanet epidemiological data:

59
episodic ataxia type 7
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
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:

32
episodic ataxia, type 7:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 611907
Disease Ontology 12 DOID:0050995
Orphanet 59 ORPHA209970
ICD10 via Orphanet 34 G11.8
UMLS via Orphanet 74 C2677843
MedGen 42 C2677843

Summaries for Episodic Ataxia, Type 7

MalaCards based summary : Episodic Ataxia, Type 7, also known as episodic ataxia type 7, is related to episodic ataxia and spinocerebellar ataxia 27. An important gene associated with Episodic Ataxia, Type 7 is EA7 (Episodic Ataxia, Type 7), and among its related pathways/superpathways is Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include eye, and related phenotypes are nystagmus and diplopia

Description from OMIM: 611907

Related Diseases for Episodic Ataxia, Type 7

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

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

611907

Human phenotypes related to Episodic Ataxia, Type 7:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 diplopia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000651
3 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
4 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
5 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
6 migraine 59 32 occasional (7.5%) Occasional (29-5%) HP:0002076
7 vertigo 59 32 hallmark (90%) Very frequent (99-80%) HP:0002321
8 tinnitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000360
9 hyperkinesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002487
10 episodic ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002131
11 myokymia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002411

Drugs & Therapeutics for Episodic Ataxia, Type 7

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarkers in Autosomal Dominant Cerebellar Ataxia Completed NCT01470729
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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

MalaCards organs/tissues related to Episodic Ataxia, Type 7:

41
Eye

Publications for Episodic Ataxia, Type 7

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 10.98 CACNA1A KCNA1

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 dendrite GO:0030425 8.96 CACNA1A KCNA1
2 neuronal cell body GO:0043025 8.62 CACNA1A KCNA1

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

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.26 CACNA1A KCNA1
2 regulation of ion transmembrane transport GO:0034765 9.16 CACNA1A KCNA1
3 regulation of membrane potential GO:0042391 8.96 CACNA1A KCNA1
4 neuromuscular process GO:0050905 8.62 CACNA1A KCNA1

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 CACNA1A KCNA1
2 voltage-gated ion channel activity GO:0005244 8.62 CACNA1A KCNA1

Sources for Episodic Ataxia, Type 7

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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