EIG3
MCID: EPL091
MIFTS: 28

Epilepsy, Idiopathic Generalized 3 (EIG3)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epilepsy, Idiopathic Generalized 3

MalaCards integrated aliases for Epilepsy, Idiopathic Generalized 3:

Name: Epilepsy, Idiopathic Generalized 3 57
Epilepsy, Idiopathic Generalized, Susceptibility to, 3 57 13
Idiopathic Generalized Epilepsy 3 12 15
Eig3 57 12
Epilepsy, Idiopathic Generalized, Susceptibility to, Locus on Chromosome 9 57
Epilepsy, Idiopathic Generalized Locus on Chromosome 9 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
seizures may occur upon awakening or at any time during the day
onset in childhood or teenage years (7 to 16 years)


HPO:

31
epilepsy, idiopathic generalized 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111318
OMIM® 57 608762
OMIM Phenotypic Series 57 PS600669
MedGen 41 C1837468

Summaries for Epilepsy, Idiopathic Generalized 3

Disease Ontology : 12 An idiopathic generalized epilepsy that has material basis in variation in a region on chromosome 9q32-q33.

MalaCards based summary : Epilepsy, Idiopathic Generalized 3, also known as epilepsy, idiopathic generalized, susceptibility to, 3, is related to epilepsy, idiopathic generalized and soft palate cancer. An important gene associated with Epilepsy, Idiopathic Generalized 3 is EIG3 (Epilepsy, Idiopathic Generalized, Susceptibility To 3), and among its related pathways/superpathways are Gene Expression and Mitotic G1-G1/S phases. Related phenotypes are cutaneous photosensitivity and seizure

More information from OMIM: 608762 PS600669

Related Diseases for Epilepsy, Idiopathic Generalized 3

Graphical network of the top 20 diseases related to Epilepsy, Idiopathic Generalized 3:



Diseases related to Epilepsy, Idiopathic Generalized 3

Symptoms & Phenotypes for Epilepsy, Idiopathic Generalized 3

Human phenotypes related to Epilepsy, Idiopathic Generalized 3:

31
# Description HPO Frequency HPO Source Accession
1 cutaneous photosensitivity 31 HP:0000992
2 seizure 31 HP:0001250
3 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
photosensitivity
seizures, myoclonic
seizures, generalized tonic-clonic (gtcs)
aura (in some instances)
eeg shows nonspecific slow-wave paroxysms

Clinical features from OMIM®:

608762 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Epilepsy, Idiopathic Generalized 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.02 AR BMERB1 E2F1 E2F4 MYC

Drugs & Therapeutics for Epilepsy, Idiopathic Generalized 3

Search Clinical Trials , NIH Clinical Center for Epilepsy, Idiopathic Generalized 3

Genetic Tests for Epilepsy, Idiopathic Generalized 3

Anatomical Context for Epilepsy, Idiopathic Generalized 3

Publications for Epilepsy, Idiopathic Generalized 3

Articles related to Epilepsy, Idiopathic Generalized 3:

# Title Authors PMID Year
1
Autosomal recessive idiopathic epilepsy in an inbred family from Turkey: identification of a putative locus on chromosome 9q32-33. 57
15101829 2004
2
Molecular cloning and characterization of a novel mouse epidermal differentiation gene and its promoter. 61
11350120 2001

Variations for Epilepsy, Idiopathic Generalized 3

Expression for Epilepsy, Idiopathic Generalized 3

Search GEO for disease gene expression data for Epilepsy, Idiopathic Generalized 3.

Pathways for Epilepsy, Idiopathic Generalized 3

Pathways related to Epilepsy, Idiopathic Generalized 3 according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 TBL1X MYC EPRS1 E2F4 E2F1 AR
2
Show member pathways
12.27 MYC E2F4 E2F1
3
Show member pathways
12.23 MYC EPRS1 E2F4 E2F1
4 12.1 MYC E2F4 E2F1
5 12.03 MYC E2F4 E2F1
6
Show member pathways
11.85 MYC E2F4 E2F1
7 11.77 MYC E2F4 E2F1
8 11.73 MYC E2F1 AR
9
Show member pathways
11.64 MYC E2F4 E2F1 AR
10
Show member pathways
11.51 E2F4 E2F1
11 11.48 MYC E2F4 E2F1
12 11.44 MYC E2F1
13
Show member pathways
11.42 MYC E2F1
14 11.41 MYC E2F1
15 11.27 MYC E2F1
16 11.24 E2F1 AR
17 11.23 MYC E2F1
18 11.2 MYC E2F1
19 11.03 TBL1X MYC AR
20 10.84 E2F4 E2F1
21 10.8 MYC E2F1
22 10.66 MYC E2F4 E2F1

GO Terms for Epilepsy, Idiopathic Generalized 3

Biological processes related to Epilepsy, Idiopathic Generalized 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.67 TBL1X MYC E2F1 AR
2 regulation of transcription by RNA polymerase II GO:0006357 9.65 TBL1X MYC E2F4 E2F1 AR
3 positive regulation of transcription, DNA-templated GO:0045893 9.46 TBL1X MYC E2F1 AR
4 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.4 E2F4 E2F1
5 positive regulation of fibroblast proliferation GO:0048146 9.32 MYC E2F1
6 positive regulation of transcription by RNA polymerase II GO:0045944 9.02 TBL1X MYC E2F4 E2F1 AR
7 regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0000083 8.96 E2F4 E2F1

Molecular functions related to Epilepsy, Idiopathic Generalized 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.56 MYC E2F4 E2F1 AR
2 transcription regulatory region sequence-specific DNA binding GO:0000976 9.5 TBL1X E2F1 AR
3 protein dimerization activity GO:0046983 9.33 MYC E2F4 E2F1
4 transcription factor binding GO:0008134 9.02 TBL1X MYC E2F4 E2F1 AR
5 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 8.96 E2F4 E2F1

Sources for Epilepsy, Idiopathic Generalized 3

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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