EIG5
MCID: EPL090
MIFTS: 19

Epilepsy, Idiopathic Generalized 5 (EIG5)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 5

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 5:

Name: Epilepsy, Idiopathic Generalized 5 57
Epilepsy, Idiopathic Generalized, Susceptibility to, 5 57 13
Idiopathic Generalized Epilepsy 5 12 15
Eig5 57 12
Epilepsy, Idiopathic Generalized, Susceptibility to, Locus on Chromosome 10 57
Epilepsy, Idiopathic Generalized Locus on Chromosome 10 57

Classifications:



External Ids:

Disease Ontology 12 DOID:0111320
OMIM® 57 611934
OMIM Phenotypic Series 57 PS600669

Summaries for Epilepsy, Idiopathic Generalized 5

Disease Ontology : 12 An idiopathic generalized epilepsy that has material basis in variation in a region on chromosome 10p11.22.

MalaCards based summary : Epilepsy, Idiopathic Generalized 5, also known as epilepsy, idiopathic generalized, susceptibility to, 5, is related to epilepsy, idiopathic generalized 4 and epilepsy, idiopathic generalized. An important gene associated with Epilepsy, Idiopathic Generalized 5 is EIG5 (Epilepsy, Idiopathic Generalized, Susceptibility To, 5). Related phenotypes are Decreased Aire reporter expression and Decreased caspase 3/7 activity

More information from OMIM: 611934 PS600669

Related Diseases for Epilepsy, Idiopathic Generalized 5

Diseases in the Epilepsy, Idiopathic Generalized family:

Epilepsy, Idiopathic Generalized 7 Epilepsy, Idiopathic Generalized 2
Epilepsy, Idiopathic Generalized 11 Epilepsy, Idiopathic Generalized 9
Epilepsy, Idiopathic Generalized 3 Epilepsy, Idiopathic Generalized 4
Epilepsy, Idiopathic Generalized 13 Epilepsy, Idiopathic Generalized 5
Epilepsy, Idiopathic Generalized 8 Epilepsy, Idiopathic Generalized 10
Epilepsy, Idiopathic Generalized 12 Epilepsy, Idiopathic Generalized 14
Epilepsy, Idiopathic Generalized 15 Epilepsy, Idiopathic Generalized 16

Diseases related to Epilepsy, Idiopathic Generalized 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 epilepsy, idiopathic generalized 4 11.6
2 epilepsy, idiopathic generalized 11.0
3 ceroid lipofuscinosis, neuronal, 9 9.9 KCTD7 CLN8
4 visual epilepsy 9.9 KCTD7 CLN8
5 progressive myoclonus epilepsy 3 9.9 KCTD7 CLN8
6 ceroid lipofuscinosis, neuronal, 1 9.9 KCTD7 CLN8
7 ceroid lipofuscinosis, neuronal, 11 9.9 KCTD7 CLN8
8 ceroid lipofuscinosis, neuronal, 13 9.9 KCTD7 CLN8
9 ceroid lipofuscinosis, neuronal, 7 9.8 KCTD7 CLN8
10 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 9.8 KCTD7 CLN8
11 spinocerebellar ataxia, autosomal recessive 7 9.8 KCTD7 CLN8
12 ceroid lipofuscinosis, neuronal, 10 9.8 KCTD7 CLN8
13 ceroid lipofuscinosis, neuronal, 3 9.7 KCTD7 CLN8
14 early myoclonic encephalopathy 9.7 KCTD7 CLN8
15 neuronal ceroid lipofuscinosis 9.6 KCTD7 CLN8

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized 5:



Diseases related to Epilepsy, Idiopathic Generalized 5

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 5

Clinical features from OMIM®:

611934 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Epilepsy, Idiopathic Generalized 5 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Aire reporter expression GR00304-A 8.96 AR HDLBP
2 Decreased caspase 3/7 activity GR00318-A 8.62 AR HDLBP

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 5

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 5

Genetic Tests for Epilepsy, Idiopathic Generalized 5

Anatomical Context for Epilepsy, Idiopathic Generalized 5

Publications for Epilepsy, Idiopathic Generalized 5

Articles related to Epilepsy, Idiopathic Generalized 5:

# Title Authors PMID Year
1
A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11. 57
18241056 2008

Variations for Epilepsy, Idiopathic Generalized 5

Expression for Epilepsy, Idiopathic Generalized 5

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 5.

Pathways for Epilepsy, Idiopathic Generalized 5

GO Terms for Epilepsy, Idiopathic Generalized 5

Biological processes related to Epilepsy, Idiopathic Generalized 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 8.96 HDLBP CLN8
2 cholesterol metabolic process GO:0008203 8.62 HDLBP CLN8

Sources for Epilepsy, Idiopathic Generalized 5

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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