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 familial adult myoclonic epilepsy and juvenile absence epilepsy. An important gene associated with Adolescence-Adult Electroclinical Syndrome is EFHC1 (EF-Hand Domain Containing 1), and among its related pathways/superpathways are Developmental Biology and Sweet Taste Signaling. Related phenotypes are Decreased viability and Decreased viability

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 top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 familial adult myoclonic epilepsy 32.1 SAMD12 RAPGEF2 DAB1
2 juvenile absence epilepsy 31.6 SCN1A GABRG2 GABRB3 GABRA1 EFHC1 CLCN2
3 epilepsy with generalized tonic-clonic seizures 31.4 SCN2A SCN1B SCN1A GABRG2 GABRD GABRB3
4 epilepsy, myoclonic juvenile 29.9 SCN2A SCN1B SCN1A KCNQ3 GJD2 GABRG2
5 myoclonic epilepsy of infancy 10.4 SCN1A GABRG2
6 febrile seizures, familial, 11 10.3 SCN1A GABRG2 GABRD
7 verbal auditory agnosia 10.3 SCN1B GABRG2
8 genetic epilepsy with febrile seizures plus 10.3 SCN2A SCN1A
9 febrile seizures, familial, 6 10.3 SCN1B SCN1A GABRG2
10 episodic kinesigenic dyskinesia 1 10.3 GABRA1 CHRNA4 CACNB4
11 episodic ataxia, type 2 10.2 SCN1A CACNB4 CACNA1H
12 spinocerebellar ataxia 37 10.2 SAMD12 DAB1
13 generalized epilepsy with febrile seizures plus, type 1 10.2 SCN1B SCN1A
14 landau-kleffner syndrome 10.2 SCN2A SCN1A GABRG2
15 epilepsy, familial adult myoclonic, 7 10.2 SAMD12 RAPGEF2 DAB1
16 epilepsy, familial adult myoclonic, 6 10.2 RAPGEF2 DAB1
17 partial motor epilepsy 10.2 SCN2A SCN1A
18 epilepsy, familial adult myoclonic, 1 10.2 SAMD12 RAPGEF2 DAB1
19 epilepsy, familial adult myoclonic, 2 10.2 SAMD12 RAPGEF2 DAB1
20 familial hyperaldosteronism 10.2 CLCN2 CACNA1H
21 epilepsy, familial temporal lobe, 5 10.2 SCN1B SCN1A GABRG2 GABRD
22 febrile seizures, familial, 8 10.2 SCN1B SCN1A GABRG2 GABRD
23 febrile seizures, familial, 4 10.2 SCN1B SCN1A GABRG2 GABRD
24 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.2 KCNQ3 CHRNA4
25 developmental and epileptic encephalopathy 14 10.2 SCN2A SCN1A CHRNA4
26 generalized epilepsy with febrile seizures plus, type 2 10.2 SCN1B SCN1A GABRG2 GABRD
27 generalized epilepsy with febrile seizures plus, type 7 10.2 SCN1B SCN1A GABRG2 GABRD
28 developmental and epileptic encephalopathy 13 10.2 SCN2A SCN1B SCN1A
29 progressive myoclonus epilepsy 4 10.2 CSTB CACNA1H
30 paramyotonia congenita of von eulenburg 10.1 SCN2A SCN1B SCN1A
31 paroxysmal extreme pain disorder 10.1 SCN2A SCN1B SCN1A
32 reflex epilepsy 10.1 SCN2A SCN1A GABRG2 CHRNA4
33 febrile seizures, familial, 5 10.1 SCN2A SCN1B SCN1A GABRG2
34 low-grade astrocytoma 10.1 SCN2A SCN1A
35 febrile seizures 10.1 SCN2A SCN1B SCN1A GABRG2 GABRD
36 episodic ataxia 10.0 SCN2A SCN1A KCNQ3 CACNB4
37 epilepsy, nocturnal frontal lobe, 1 10.0 SCN1B SCN1A KCNQ3 GABRG2 CHRNA4
38 pervasive developmental disorder 10.0 SCN2A SCN1A GABRB3
39 trigeminal nerve disease 9.9 SCN2A SCN1A
40 focal epilepsy 9.9 SCN2A SCN1A GABRG2 GABRD CHRNA4 CACNA1H
41 migraine with or without aura 1 9.9 SCN2A SCN1A KCNQ3 CACNB4 CACNA1H
42 febrile seizures, familial, 2 9.9 SCN2A SCN1B SCN1A KCNQ3 GABRG2 EFHC1
43 infancy electroclinical syndrome 9.9 SCN2A SCN1B SCN1A KCNQ3 GABRB3 GABRA1
44 alacrima, achalasia, and mental retardation syndrome 9.8 SCN2A SCN1A KCNQ3 GABRG2 GABRB3 GABRA1
45 unverricht-lundborg syndrome 9.8 SCN1B SCN1A KCNQ3 GABRG2 EFHC1 CSTB
46 febrile seizures, familial, 1 9.8 SCN2A SCN1B SCN1A KCNQ3 GABRG2 EFHC1
47 benign familial neonatal epilepsy 9.7 SCN2A SCN1B SCN1A KCNQ3 GABRG2 GABRA1
48 seizure disorder 9.7 SCN2A SCN1B SCN1A KCNQ3 GABRG2 GABRA1
49 photosensitive epilepsy 9.7 SCN2A SCN1B SCN1A KCNQ3 GABRG2 GABRA1
50 benign neonatal seizures 9.7 SCN2A SCN1B SCN1A KCNQ3 GABRA1 EFHC1

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 Decreased viability GR00221-A-1 9.91 BRD2
2 Decreased viability GR00221-A-2 9.91 BRD2 GABRA1
3 Decreased viability GR00221-A-4 9.91 BRD2 GABRA1
4 Decreased viability GR00249-S 9.91 DAB1 GABRB3 GABRD SCN1B SCN2A
5 Decreased viability GR00301-A 9.91 BRD2
6 Decreased viability GR00381-A-1 9.91 CSTB EFHC2 RAPGEF2
7 Decreased viability GR00386-A-1 9.91 CSTB EFHC2
8 Decreased viability GR00402-S-2 9.91 SCN1B SCN2A
9 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.23 CACNB4 CLCN2 CSTB EFHC1 GABRA1 RAPGEF2

MGI Mouse Phenotypes related to Adolescence-Adult Electroclinical Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.32 BRD2 CACNA1H CACNB4 CHRNA4 CLCN2 CSTB
2 growth/size/body region MP:0005378 10.13 BRD2 CACNA1H CACNB4 CSTB DAB1 GABRA1
3 mortality/aging MP:0010768 9.97 BRD2 CACNB4 CHRNA4 DAB1 GABRA1 GABRB3
4 nervous system MP:0003631 9.91 BRD2 CACNA1H CACNB4 CHRNA4 CLCN2 CSTB
5 hearing/vestibular/ear MP:0005377 9.73 BRD2 CACNB4 CSTB GABRA1 GABRB3 GABRD
6 no phenotypic analysis MP:0003012 9.23 CHRNA4 CSTB DAB1 GABRA1 GABRB3 GJD2

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

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 SCN2A SCN1B SCN1A RAPGEF2 KCNQ3 CACNB4
2
Show member pathways
12.84 GABRG2 GABRD GABRB3 GABRA1 CACNB4 CACNA1H
3
Show member pathways
12.8 SCN2A SCN1B SCN1A GJD2 CACNB4 CACNA1H
4
Show member pathways
12.72 KCNQ3 GJD2 GABRG2 GABRB3 GABRA1 CHRNA4
5 12.38 SCN2A SCN1B SCN1A DAB1
6
Show member pathways
12.35 GABRG2 GABRD GABRB3 GABRA1
7
Show member pathways
12.31 GABRG2 GABRB3 GABRA1 CLCN2
8
Show member pathways
12.22 GABRG2 GABRD GABRB3 GABRA1
9
Show member pathways
11.88 GABRG2 GABRB3 GABRA1
10
Show member pathways
11.77 SCN2A SCN1B SCN1A KCNQ3
11
Show member pathways
11.43 SCN2A SCN1B SCN1A CACNB4
12 11.37 KCNQ3 CACNB4 CACNA1H
13
Show member pathways
11.2 GABRG2 GABRB3 GABRA1
14 10.93 SCN2A SCN1B SCN1A KCNQ3
15
Show member pathways
10.78 GABRG2 GABRA1
16 10.62 GABRG2 GABRD GABRB3 GABRA1 CHRNA4
17 10.49 GABRG2 GABRD GABRB3 GABRA1

GO Terms for Adolescence-Adult Electroclinical Syndrome

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.34 SCN2A SCN1B SCN1A RAPGEF2 KCNQ3 GJD2
2 synapse GO:0045202 10.06 RAPGEF2 KCNQ3 GJD2 GABRG2 GABRD GABRB3
3 integral component of plasma membrane GO:0005887 10.06 SCN2A SCN1B RAPGEF2 KCNQ3 GABRG2 GABRD
4 cell junction GO:0030054 10.05 RAPGEF2 GJD2 GABRG2 GABRD GABRB3 GABRA1
5 axon GO:0030424 9.95 SCN2A SCN1B SCN1A GABRG2 GABRD
6 neuronal cell body GO:0043025 9.95 SCN1A RAPGEF2 GABRD EFHC1 DAB1 CHRNA4
7 postsynaptic membrane GO:0045211 9.85 GABRG2 GABRD GABRB3 GABRA1 CHRNA4
8 neuron projection GO:0043005 9.76 RAPGEF2 GABRG2 GABRD GABRB3 GABRA1 DAB1
9 GABA-ergic synapse GO:0098982 9.73 GABRG2 GABRD GABRA1
10 intercalated disc GO:0014704 9.71 SCN2A SCN1B SCN1A
11 T-tubule GO:0030315 9.7 SCN2A SCN1B SCN1A
12 GABA-A receptor complex GO:1902711 9.67 GABRG2 GABRD GABRB3 GABRA1
13 sodium channel complex GO:0034706 9.61 SCN2A SCN1B SCN1A
14 axon initial segment GO:0043194 9.57 SCN1A KCNQ3
15 voltage-gated sodium channel complex GO:0001518 9.56 SCN2A SCN1B SCN1A CACNA1H
16 node of Ranvier GO:0033268 9.26 SCN2A SCN1B SCN1A KCNQ3
17 chloride channel complex GO:0034707 9.02 GABRG2 GABRD GABRB3 GABRA1 CLCN2

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.04 SCN2A SCN1A KCNQ3 GJD2 CLCN2 CACNA1H
2 chemical synaptic transmission GO:0007268 9.91 KCNQ3 GABRG2 GABRD GABRB3 GABRA1 CHRNA4
3 sodium ion transmembrane transport GO:0035725 9.84 SCN2A SCN1B SCN1A CACNA1H
4 chloride transmembrane transport GO:1902476 9.83 GABRG2 GABRD GABRB3 GABRA1 CLCN2
5 chloride transport GO:0006821 9.8 GABRG2 GABRD GABRB3 GABRA1 CLCN2
6 regulation of ion transmembrane transport GO:0034765 9.8 SCN2A SCN1B SCN1A KCNQ3 CLCN2 CACNB4
7 sodium ion transport GO:0006814 9.79 SCN2A SCN1B SCN1A
8 regulation of postsynaptic membrane potential GO:0060078 9.78 GABRG2 GABRD GABRA1 CHRNA4
9 neuronal action potential GO:0019228 9.73 SCN2A SCN1A CACNA1H
10 ion transport GO:0006811 9.73 SCN2A SCN1B SCN1A KCNQ3 GABRG2 GABRD
11 gamma-aminobutyric acid signaling pathway GO:0007214 9.72 GABRG2 GABRB3 GABRA1
12 nervous system process GO:0050877 9.72 GABRG2 GABRD GABRB3 GABRA1 CHRNA4
13 membrane depolarization GO:0051899 9.7 SCN1B CHRNA4 CACNB4
14 regulation of membrane potential GO:0042391 9.7 SCN1A GABRG2 GABRD GABRB3 GABRA1 CHRNA4
15 membrane depolarization during action potential GO:0086010 9.69 SCN2A SCN1A CACNA1H
16 inhibitory synapse assembly GO:1904862 9.67 GABRG2 GABRB3 GABRA1
17 cellular response to histamine GO:0071420 9.63 GABRG2 GABRB3 GABRA1
18 action potential GO:0001508 9.61 SCN1A CHRNA4
19 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 SCN1B SCN1A
20 cilium-dependent cell motility GO:0060285 9.6 EFHC2 EFHC1
21 synaptic transmission, GABAergic GO:0051932 9.59 GABRG2 GABRA1
22 cerebral cortex cell migration GO:0021795 9.58 EFHC1 DAB1
23 neuronal action potential propagation GO:0019227 9.58 SCN1B SCN1A
24 ion transmembrane transport GO:0034220 9.36 SCN2A SCN1B SCN1A KCNQ3 GABRG2 GABRD

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.85 GABRG2 GABRD GABRB3 GABRA1 CHRNA4
2 neurotransmitter receptor activity GO:0030594 9.8 GABRG2 GABRD GABRB3 GABRA1 CHRNA4
3 chloride channel activity GO:0005254 9.72 GABRG2 GABRD GABRB3 GABRA1 CLCN2
4 cation channel activity GO:0005261 9.69 SCN2A SCN1A CACNA1H
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.67 GABRG2 GABRD GABRA1
6 voltage-gated sodium channel activity GO:0005248 9.67 SCN2A SCN1B SCN1A CACNA1H
7 sodium channel activity GO:0005272 9.65 SCN2A SCN1B SCN1A
8 GABA-gated chloride ion channel activity GO:0022851 9.61 GABRG2 GABRB3 GABRA1
9 GABA-A receptor activity GO:0004890 9.56 GABRG2 GABRD GABRB3 GABRA1
10 extracellular ligand-gated ion channel activity GO:0005230 9.55 GABRG2 GABRD GABRB3 GABRA1 CHRNA4
11 benzodiazepine receptor activity GO:0008503 9.54 GABRG2 GABRA1
12 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.52 GABRG2 GABRA1
13 voltage-gated ion channel activity GO:0005244 9.5 SCN2A SCN1B SCN1A KCNQ3 CLCN2 CACNB4
14 ion channel activity GO:0005216 9.28 SCN2A SCN1A KCNQ3 GABRG2 GABRD GABRB3

Sources for Adolescence-Adult Electroclinical Syndrome

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