MCID: ADL051
MIFTS: 22

Adolescence-Adult Electroclinical Syndrome

Categories: Neuronal diseases

Aliases & Classifications for Adolescence-Adult Electroclinical Syndrome

MalaCards integrated aliases for Adolescence-Adult Electroclinical Syndrome:

Name: Adolescence-Adult Electroclinical Syndrome 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050705

Summaries for Adolescence-Adult Electroclinical Syndrome

Disease Ontology : 12 An electroclinical syndrome with onset in adolescence and adulthood.

MalaCards based summary : Adolescence-Adult Electroclinical Syndrome is related to juvenile absence epilepsy and epilepsy with generalized tonic-clonic seizures. An important gene associated with Adolescence-Adult Electroclinical Syndrome is EFHC1 (EF-Hand Domain Containing 1), and among its related pathways/superpathways are Sweet Taste Signaling and GABAergic synapse. Related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and behavior/neurological

Related Diseases for Adolescence-Adult Electroclinical Syndrome

Diseases related to Adolescence-Adult Electroclinical Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 juvenile absence epilepsy 31.7 CLCN2 EFHC1 GABRA1 GJA8
2 epilepsy with generalized tonic-clonic seizures 29.4 CSTB EFHC1 PAQR8 SCN1A TBC1D24
3 epilepsy, idiopathic generalized 10 24.0 BRD2 CACNB4 CLCN2 CSTB EFHC1 GABRA1
4 epilepsy, myoclonic juvenile 10.5 CACNB4 EFHC1
5 photosensitive epilepsy 10.3 BRD2 GJA8
6 cataract 1, multiple types 10.3 GABRG2 GJA8
7 agenesis of the corpus callosum with peripheral neuropathy 10.2 CLCN2 TBC1D24
8 malignant migrating partial seizures of infancy 10.1 SCN1A TBC1D24
9 unverricht-lundborg syndrome 10.1 CSTB EFHC1 TBC1D24
10 myoclonic epilepsy of infancy 10.0 GABRG2 SCN1A
11 neonatal period electroclinical syndrome 10.0 SCN1A TBC1D24
12 cataract 14, multiple types 9.9 GABRG2 GJA8
13 seizures, benign familial infantile, 3 9.9 GABRG2 SCN1A
14 benign epilepsy with centrotemporal spikes 9.9 CSTB GABRG2 TBC1D24
15 epilepsy, nocturnal frontal lobe, 1 9.8 GABRG2 SCN1A
16 infancy electroclinical syndrome 9.7 GABRG2 SCN1A TBC1D24
17 progressive myoclonus epilepsy 9.7 CSTB TBC1D24
18 early myoclonic encephalopathy 9.5 CSTB GABRG2 SCN1A
19 febrile seizures 9.4 GABRD GABRG2 SCN1A
20 lennox-gastaut syndrome 9.3 GABRA1 GABRB3 SCN1A TBC1D24
21 focal epilepsy 9.1 GABRD GABRG2 SCN1A TBC1D24
22 childhood absence epilepsy 8.9 CLCN2 EFHC1 GABRA1 GABRB3 GABRG2 GJA8
23 childhood electroclinical syndrome 8.6 CLCN2 EFHC1 GABRA1 GABRB3 GABRG2 GJA8
24 generalized epilepsy with febrile seizures plus 8.6 EFHC1 GABRA1 GABRD GABRG2 SCN1A TBC1D24
25 epileptic encephalopathy, early infantile, 6 8.2 GABRA1 GABRB3 GABRD GABRG2 SCN1A TBC1D24
26 epilepsy, idiopathic generalized 7.8 CACNB4 CLCN2 EFHC1 GABRA1 GABRD GABRG2
27 epilepsy 7.0 CACNB4 CSTB EFHC1 GABRA1 GABRB3 GABRD

Graphical network of the top 20 diseases related to Adolescence-Adult Electroclinical Syndrome:



Diseases related to Adolescence-Adult Electroclinical Syndrome

Symptoms & Phenotypes for Adolescence-Adult Electroclinical Syndrome

GenomeRNAi Phenotypes related to Adolescence-Adult Electroclinical Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.1 CACNB4 CLCN2 CSTB EFHC1 GABRA1 SCN1A

MGI Mouse Phenotypes related to Adolescence-Adult Electroclinical Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 BRD2 CACNB4 CLCN2 CSTB EFHC1 GABRA1
2 nervous system MP:0003631 9.65 BRD2 CACNB4 CLCN2 CSTB EFHC1 GABRA1
3 reproductive system MP:0005389 9.17 GABRB3 GABRD GABRG2 SCN1A CACNB4 CLCN2

Drugs & Therapeutics for Adolescence-Adult Electroclinical Syndrome

Search Clinical Trials , NIH Clinical Center for Adolescence-Adult Electroclinical Syndrome

Genetic Tests for Adolescence-Adult Electroclinical Syndrome

Anatomical Context for Adolescence-Adult Electroclinical Syndrome

Publications for Adolescence-Adult Electroclinical Syndrome

Variations for Adolescence-Adult Electroclinical Syndrome

Expression for Adolescence-Adult Electroclinical Syndrome

Search GEO for disease gene expression data for Adolescence-Adult Electroclinical Syndrome.

Pathways for Adolescence-Adult Electroclinical Syndrome

GO Terms for Adolescence-Adult Electroclinical Syndrome

Cellular components related to Adolescence-Adult Electroclinical Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.88 CLCN2 GABRA1 GABRB3 GABRD GABRG2 GJA8
2 synapse GO:0045202 9.78 GABRA1 GABRB3 GABRD GABRG2
3 neuron projection GO:0043005 9.67 GABRA1 GABRB3 GABRD GABRG2
4 cell junction GO:0030054 9.63 GABRA1 GABRB3 GABRD GABRG2 GJA8 TBC1D24
5 cytoplasmic vesicle membrane GO:0030659 9.61 GABRA1 GABRB3 GABRG2
6 postsynaptic membrane GO:0045211 9.56 GABRA1 GABRB3 GABRD GABRG2
7 dendrite membrane GO:0032590 9.46 GABRA1 GABRG2
8 GABA-A receptor complex GO:1902711 9.26 GABRA1 GABRB3 GABRD GABRG2
9 chloride channel complex GO:0034707 9.02 CLCN2 GABRA1 GABRB3 GABRD GABRG2
10 plasma membrane GO:0005886 10.02 CACNB4 CLCN2 GABRA1 GABRB3 GABRD GABRG2

Biological processes related to Adolescence-Adult Electroclinical Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 CACNB4 CLCN2 GABRA1 GABRB3 GABRD GABRG2
2 chemical synaptic transmission GO:0007268 9.83 CACNB4 GABRA1 GABRB3 GABRD GABRG2
3 ion transmembrane transport GO:0034220 9.73 CLCN2 GABRA1 GABRB3 GABRD GABRG2 SCN1A
4 nervous system process GO:0050877 9.71 GABRA1 GABRB3 GABRD GABRG2
5 regulation of ion transmembrane transport GO:0034765 9.67 CACNB4 CLCN2 SCN1A
6 gamma-aminobutyric acid signaling pathway GO:0007214 9.63 GABRA1 GABRB3 GABRG2
7 regulation of membrane potential GO:0042391 9.55 GABRA1 GABRB3 GABRD GABRG2 SCN1A
8 regulation of postsynaptic membrane potential GO:0060078 9.51 GABRA1 GABRG2
9 cellular response to histamine GO:0071420 9.5 GABRA1 GABRB3 GABRG2
10 synaptic transmission, GABAergic GO:0051932 9.48 GABRA1 GABRG2
11 chloride transmembrane transport GO:1902476 9.35 CLCN2 GABRA1 GABRB3 GABRD GABRG2
12 chloride transport GO:0006821 9.02 CLCN2 GABRA1 GABRB3 GABRD GABRG2

Molecular functions related to Adolescence-Adult Electroclinical Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular ligand-gated ion channel activity GO:0005230 9.56 GABRA1 GABRB3 GABRD GABRG2
2 ion channel activity GO:0005216 9.55 GABRA1 GABRB3 GABRD GABRG2 SCN1A
3 GABA-gated chloride ion channel activity GO:0022851 9.5 GABRA1 GABRB3 GABRG2
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.43 GABRA1 GABRG2
5 benzodiazepine receptor activity GO:0008503 9.4 GABRA1 GABRG2
6 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.37 GABRA1 GABRG2
7 chloride channel activity GO:0005254 9.35 CLCN2 GABRA1 GABRB3 GABRD GABRG2
8 GABA-A receptor activity GO:0004890 8.92 GABRA1 GABRB3 GABRD GABRG2

Sources for Adolescence-Adult Electroclinical Syndrome

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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