MCID: ADL051
MIFTS: 23

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 Transmission across Chemical Synapses. Related phenotypes are Decreased cell number and Resistant to vaccinia virus (VACV-A4L) infection

Related Diseases for Adolescence-Adult Electroclinical Syndrome

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell number GR00098-A-1 9.43 CACNB4 CLCN2 CSTB GABRB3 ME2 PAQR8
2 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 BRD2 CACNB4 CLCN2 CSTB EFHC1 GABRA1
2 nervous system MP:0003631 9.65 BRD2 CACNB4 CLCN2 CSTB EFHC1 GABRA1
3 hearing/vestibular/ear MP:0005377 9.55 BRD2 CACNB4 GABRA1 GABRB3 GABRD
4 reproductive system MP:0005389 9.17 CACNB4 CLCN2 GABRA1 GABRB3 GABRD GABRG2

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.8 GABRA1 GABRB3 GABRD GABRG2
2 integral component of plasma membrane GO:0005887 9.8 CLCN2 GABRA1 GABRB3 GABRD GABRG2 GJA8
3 cell junction GO:0030054 9.77 GABRA1 GABRB3 GABRD GABRG2 GJA8
4 neuron projection GO:0043005 9.71 GABRA1 GABRB3 GABRD GABRG2
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-ergic synapse GO:0098982 9.46 GABRA1 GABRB3 GABRD GABRG2
9 GABA-A receptor complex GO:1902711 9.26 GABRA1 GABRB3 GABRD GABRG2
10 chloride channel complex GO:0034707 9.02 CLCN2 GABRA1 GABRB3 GABRD GABRG2
11 plasma membrane GO:0005886 10.13 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 nervous system process GO:0050877 9.71 GABRA1 GABRB3 GABRD GABRG2
4 regulation of ion transmembrane transport GO:0034765 9.69 CACNB4 CLCN2 SCN1A
5 regulation of postsynaptic membrane potential GO:0060078 9.65 GABRA1 GABRD GABRG2
6 regulation of membrane potential GO:0042391 9.65 GABRA1 GABRB3 GABRD GABRG2 SCN1A
7 gamma-aminobutyric acid signaling pathway GO:0007214 9.63 GABRA1 GABRB3 GABRG2
8 ion transmembrane transport GO:0034220 9.63 CLCN2 GABRA1 GABRB3 GABRD GABRG2 SCN1A
9 cellular response to histamine GO:0071420 9.5 GABRA1 GABRB3 GABRG2
10 synaptic transmission, GABAergic GO:0051932 9.49 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 ion channel activity GO:0005216 9.65 GABRA1 GABRB3 GABRD GABRG2 SCN1A
2 extracellular ligand-gated ion channel activity GO:0005230 9.62 GABRA1 GABRB3 GABRD GABRG2
3 GABA-gated chloride ion channel activity GO:0022851 9.54 GABRA1 GABRB3 GABRG2
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.46 GABRA1 GABRB3 GABRD GABRG2
5 benzodiazepine receptor activity GO:0008503 9.43 GABRA1 GABRG2
6 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.4 GABRA1 GABRG2
7 GABA-A receptor activity GO:0004890 9.26 GABRA1 GABRB3 GABRD GABRG2
8 chloride channel activity GO:0005254 9.02 CLCN2 GABRA1 GABRB3 GABRD GABRG2

Sources for Adolescence-Adult Electroclinical Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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