MCID: UND011
MIFTS: 20

Undetermined Early-Onset Epileptic Encephalopathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Undetermined Early-Onset Epileptic Encephalopathy

MalaCards integrated aliases for Undetermined Early-Onset Epileptic Encephalopathy:

Name: Undetermined Early-Onset Epileptic Encephalopathy 59 6
Undetermined Eoee 59

Characteristics:

Orphanet epidemiological data:

59
undetermined early-onset epileptic encephalopathy
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA442835
ICD10 via Orphanet 34 G40.4

Summaries for Undetermined Early-Onset Epileptic Encephalopathy

MalaCards based summary : Undetermined Early-Onset Epileptic Encephalopathy, also known as undetermined eoee, is related to autosomal dominant non-syndromic intellectual disability and infantile epileptic encephalopathy. An important gene associated with Undetermined Early-Onset Epileptic Encephalopathy is SLC13A5 (Solute Carrier Family 13 Member 5), and among its related pathways/superpathways are Neuroscience and Synaptic vesicle cycle. Related phenotypes are behavior/neurological and mortality/aging

Related Diseases for Undetermined Early-Onset Epileptic Encephalopathy

Diseases related to Undetermined Early-Onset Epileptic Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 10.3 CLTC PPP3CA STXBP1
2 infantile epileptic encephalopathy 10.2 NECAP1 SCN8A STXBP1
3 encephalopathy 10.1 AP3B2 NECAP1 SLC13A5 STXBP1
4 west syndrome 10.0 NTRK2 SCN8A STXBP1

Symptoms & Phenotypes for Undetermined Early-Onset Epileptic Encephalopathy

MGI Mouse Phenotypes related to Undetermined Early-Onset Epileptic Encephalopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 AARS AP3B2 CACNA1A NTRK2 SCN8A SLC13A5
2 mortality/aging MP:0010768 9.8 AARS CACNA1A DHDDS NTRK2 NUS1 PPP3CA
3 nervous system MP:0003631 9.4 TRAK1 WWOX AARS AP3B2 CACNA1A NTRK2

Drugs & Therapeutics for Undetermined Early-Onset Epileptic Encephalopathy

Search Clinical Trials , NIH Clinical Center for Undetermined Early-Onset Epileptic Encephalopathy

Genetic Tests for Undetermined Early-Onset Epileptic Encephalopathy

Anatomical Context for Undetermined Early-Onset Epileptic Encephalopathy

Publications for Undetermined Early-Onset Epileptic Encephalopathy

Variations for Undetermined Early-Onset Epileptic Encephalopathy

ClinVar genetic disease variations for Undetermined Early-Onset Epileptic Encephalopathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SRGAP2 NC_000001.10: g.(?_206516175)_(206567055_?)dup duplication Likely pathogenic GRCh37 Chromosome 1, 206516175: 206567055
2 SRGAP2 NC_000001.10: g.(?_206579711)_(206634815_?)dup duplication Likely pathogenic GRCh37 Chromosome 1, 206579711: 206634815
3 RBFOX1 NC_000016.10: g.(?_6316970)_(6317082_?)del deletion Likely pathogenic GRCh37 Chromosome 16, 6366971: 6367083
4 RBFOX1 NC_000016.10: g.(?_6316970)_(6317082_?)del deletion Likely pathogenic GRCh38 Chromosome 16, 6316970: 6317082
5 RBFOX1 NC_000016.10: g.(?_6654578)_(6654675_?)del deletion Likely pathogenic GRCh38 Chromosome 16, 6654578: 6654675
6 RBFOX1 NC_000016.10: g.(?_6654578)_(6654675_?)del deletion Likely pathogenic GRCh37 Chromosome 16, 6704579: 6704676

Expression for Undetermined Early-Onset Epileptic Encephalopathy

Search GEO for disease gene expression data for Undetermined Early-Onset Epileptic Encephalopathy.

Pathways for Undetermined Early-Onset Epileptic Encephalopathy

Pathways related to Undetermined Early-Onset Epileptic Encephalopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.79 NTRK2 SCN8A SLC1A2 STXBP1
2
Show member pathways
10.86 CACNA1A CLTC STXBP1

GO Terms for Undetermined Early-Onset Epileptic Encephalopathy

Cellular components related to Undetermined Early-Onset Epileptic Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.72 AP3B2 CLTC NECAP1 SCN8A TRAK1
2 membrane GO:0016020 9.53 AARS AP3B2 CACNA1A CLTC CNKSR2 DHDDS
3 presynapse GO:0098793 9.43 CACNA1A STXBP1 SYNJ1
4 terminal bouton GO:0043195 9.33 NTRK2 STXBP1 SYNJ1
5 clathrin coat of coated pit GO:0030132 8.96 CLTC SYNJ1

Biological processes related to Undetermined Early-Onset Epileptic Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.71 AP3B2 CLTC NECAP1 STXBP1
2 negative regulation of neuron apoptotic process GO:0043524 9.56 AARS CACNA1A NTRK2 STXBP1
3 membrane organization GO:0061024 9.46 CLTC NECAP1 SYNJ1 YWHAG
4 cerebellar Purkinje cell layer development GO:0021680 9.37 AARS CACNA1A
5 dolichyl diphosphate biosynthetic process GO:0006489 9.32 DHDDS NUS1
6 glutamate secretion GO:0014047 9.13 NTRK2 SLC1A2 STXBP1
7 neuromuscular process GO:0050905 8.8 AARS CACNA1A UBA5

Molecular functions related to Undetermined Early-Onset Epileptic Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring alkyl or aryl (other than methyl) groups GO:0016765 8.62 DHDDS NUS1

Sources for Undetermined Early-Onset Epileptic Encephalopathy

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
Content
Loading form....