EA7
MCID: EPS015
MIFTS: 30

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 58 30 13
Episodic Ataxia Type 7 12 60 15
Ea7 58

Characteristics:

Orphanet epidemiological data:

60
episodic ataxia type 7
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
episodic ataxia, type 7:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050995
OMIM 58 611907
ICD10 via Orphanet 35 G11.8
UMLS via Orphanet 75 C2677843
Orphanet 60 ORPHA209970
MedGen 43 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 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 dysarthria and muscle weakness

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

Human phenotypes related to Episodic Ataxia, Type 7:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001260
2 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
3 vertigo 60 33 hallmark (90%) Very frequent (99-80%) HP:0002321
4 episodic ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002131
5 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
6 diplopia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000651
7 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
8 migraine 60 33 occasional (7.5%) Occasional (29-5%) HP:0002076
9 tinnitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000360
10 hyperkinesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002487
11 myokymia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002411

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
vertigo
weakness
ataxia, episodic (episodes last from hours to days)
normal interictal neurologic examination

Clinical features from OMIM:

611907

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 30

Anatomical Context for Episodic Ataxia, Type 7

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

42
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 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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