MCID: VSL002
MIFTS: 30

Visual Epilepsy

Categories: Neuronal diseases, Eye diseases

Aliases & Classifications for Visual Epilepsy

MalaCards integrated aliases for Visual Epilepsy:

Name: Visual Epilepsy 12 15
Epilepsy, Visual 12
Visual Seizure 73
Seizures 44

Classifications:



External Ids:

Disease Ontology 12 DOID:11832
MeSH 44 D012640
NCIt 50 C3980
SNOMED-CT 68 39194005
UMLS 73 C0270824

Summaries for Visual Epilepsy

MalaCards based summary : Visual Epilepsy, also known as epilepsy, visual, is related to epilepsy and seizure disorder, and has symptoms including seizures An important gene associated with Visual Epilepsy is CLN8 (CLN8, Transmembrane ER And ERGIC Protein), and among its related pathways/superpathways are Lysosome and Mitophagy - animal. Affiliated tissues include eye, and related phenotypes are nervous system and muscle

Related Diseases for Visual Epilepsy

Diseases related to Visual Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 142)
# Related Disease Score Top Affiliating Genes
1 epilepsy 29.1 CLN8 EPM2A KCTD7 NHLRC1
2 seizure disorder 12.2
3 generalized epilepsy with febrile seizures plus, type 2 12.2
4 seizures, benign familial infantile, 3 12.2
5 febrile seizures 12.2
6 generalized epilepsy with febrile seizures plus, type 1 12.2
7 malignant migrating partial seizures of infancy 12.2
8 febrile seizures, familial, 11 12.2
9 benign neonatal seizures 12.2
10 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.1
11 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 12.1
12 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.1
13 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.1
14 generalized epilepsy with febrile seizures plus, type 3 12.1
15 generalized epilepsy with febrile seizures plus, type 7 12.1
16 genetic epilepsy with febrile seizures plus 12.1
17 generalized epilepsy with febrile seizures plus 12.1
18 dissociative seizures 12.1
19 microcephaly, seizures, and developmental delay 12.1
20 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.0
21 microcephaly, short stature, and polymicrogyria with or without seizures 12.0
22 seizures, benign familial infantile, 2 12.0
23 generalized epilepsy with febrile seizures plus, type 9 12.0
24 scn1a-related seizure disorders 12.0
25 seizures, benign familial neonatal, 2 12.0
26 primary aldosteronism, seizures, and neurologic abnormalities 12.0
27 seizures, benign familial neonatal, 1 12.0
28 febrile seizures, familial, 4 12.0
29 epilepsy with generalized tonic-clonic seizures 12.0
30 rigidity and multifocal seizure syndrome, lethal neonatal 12.0
31 microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 12.0
32 seizures, benign familial infantile, 1 12.0
33 cerebellar atrophy, developmental delay, and seizures 12.0
34 seizures, cortical blindness, and microcephaly syndrome 12.0
35 microcephaly, postnatal progressive, with seizures and brain atrophy 12.0
36 seizures, scoliosis, and macrocephaly syndrome 12.0
37 seizures, benign familial infantile, 5 12.0
38 hypomagnesemia, seizures, and mental retardation 12.0
39 spastic paraplegia and psychomotor retardation with or without seizures 12.0
40 generalized epilepsy with febrile seizures plus, type 8 12.0
41 arthrogryposis, mental retardation, and seizures 12.0
42 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 12.0
43 febrile seizures, familial, 1 12.0
44 optic atrophy 10 with or without ataxia, mental retardation, and seizures 11.9
45 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.9
46 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 11.9
47 multiple congenital anomalies-hypotonia-seizures syndrome 11.9
48 audiogenic seizures 11.9
49 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 11.9
50 developmental delay and seizures with or without movement abnormalities 11.9

Graphical network of the top 20 diseases related to Visual Epilepsy:



Diseases related to Visual Epilepsy

Symptoms & Phenotypes for Visual Epilepsy

UMLS symptoms related to Visual Epilepsy:


seizures

MGI Mouse Phenotypes related to Visual Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.81 PPT1 CLN3 CLN5 CLN6 CLN8 DNAJC5
2 muscle MP:0005369 9.73 BNIP3 DNAJC5 EPM2A MFSD8 NHLRC1 PPT1
3 pigmentation MP:0001186 9.26 CLN8 MFSD8 NHLRC1 PPT1
4 vision/eye MP:0005391 9.17 CLN3 CLN5 CLN6 CLN8 DNAJC5 MFSD8

Drugs & Therapeutics for Visual Epilepsy

Search Clinical Trials , NIH Clinical Center for Visual Epilepsy

Cochrane evidence based reviews: seizures

Genetic Tests for Visual Epilepsy

Anatomical Context for Visual Epilepsy

MalaCards organs/tissues related to Visual Epilepsy:

41
Eye

Publications for Visual Epilepsy

Articles related to Visual Epilepsy:

# Title Authors Year
1
Visual epilepsy in glioblastoma multiforme. ( 19803301 )
2008

Variations for Visual Epilepsy

Expression for Visual Epilepsy

Search GEO for disease gene expression data for Visual Epilepsy.

Pathways for Visual Epilepsy

Pathways related to Visual Epilepsy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.01 CLN3 CLN5 MFSD8 PPT1
2 10.94 BNIP3 BNIP3L GABARAPL2
3 10.72 BNIP3 BNIP3L

GO Terms for Visual Epilepsy

Cellular components related to Visual Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.67 CLN3 CLN5 MFSD8 PPT1
2 synaptic vesicle GO:0008021 9.5 CLN3 DNAJC5 PPT1
3 lysosomal membrane GO:0005765 9.43 CLN3 CLN5 DNAJC5 ENSG00000261832 MFSD8 STX8
4 endoplasmic reticulum GO:0005783 9.36 BNIP3 BNIP3L CLN3 CLN5 CLN6 CLN8
5 mitochondrial envelope GO:0005740 9.26 BNIP3 BNIP3L
6 integral component of membrane GO:0016021 10.14 BNIP3 BNIP3L CLN3 CLN5 CLN6 CLN8
7 membrane GO:0016020 10.03 BNIP3 BNIP3L CLN3 CLN5 CLN6 CLN8

Biological processes related to Visual Epilepsy according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 9.72 EPM2A GABARAPL2 NHLRC1
2 negative regulation of neuron apoptotic process GO:0043524 9.67 CLN3 DNAJC5 PPT1
3 cell death GO:0008219 9.57 BNIP3 VAPA
4 associative learning GO:0008306 9.56 CLN3 PPT1
5 autophagosome maturation GO:0097352 9.54 CLN3 GABARAPL2
6 glycogen biosynthetic process GO:0005978 9.52 EPM2A NHLRC1
7 negative regulation of proteolysis GO:0045861 9.51 CLN3 CLN8
8 positive regulation of macroautophagy GO:0016239 9.5 BNIP3 BNIP3L EPM2A
9 ceramide metabolic process GO:0006672 9.48 CLN3 CLN8
10 mitochondrial outer membrane permeabilization GO:0097345 9.46 BNIP3 BNIP3L
11 lysosome organization GO:0007040 9.46 CLN3 CLN6 MFSD8 PPT1
12 negative regulation of mitochondrial membrane potential GO:0010917 9.43 BNIP3 BNIP3L
13 mitochondrial protein catabolic process GO:0035694 9.4 BNIP3 BNIP3L
14 regulation of programmed cell death GO:0043067 9.37 BNIP3 BNIP3L
15 protein catabolic process GO:0030163 9.35 CLN3 CLN5 CLN6 CLN8 PPT1
16 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 PPT1
17 lysosomal lumen acidification GO:0007042 8.92 CLN3 CLN5 CLN6 PPT1

Sources for Visual Epilepsy

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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