MCID: ADL051
MIFTS: 24

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 73)
# Related Disease Score Top Affiliating Genes
1 familial adult myoclonic epilepsy 32.5 SAMD12 RAPGEF2 DAB1
2 juvenile absence epilepsy 31.9 SCN1A GJA8 GABRG2 GABRB3 GABRA1 EFHC1
3 epilepsy with generalized tonic-clonic seizures 31.4 SCN2A SCN1B SCN1A GJA8 GABRG2 GABRD
4 epilepsy, myoclonic juvenile 29.7 SCN2A SCN1B SCN1A KCNQ3 GJD2 GJA8
5 myoclonic epilepsy of infancy 10.5 SCN1A GABRG2
6 episodic ataxia, type 5 10.5 SCN1A CACNB4
7 reflex epilepsy 10.4 SCN1A GABRG2
8 febrile seizures, familial, 11 10.4 SCN1A GABRG2 GABRD
9 verbal auditory agnosia 10.4 SCN1B GABRG2
10 genetic epilepsy with febrile seizures plus 10.4 SCN2A SCN1A
11 seizure disorder 10.4 SCN2A SCN1A
12 febrile seizures, familial, 6 10.4 SCN1B SCN1A GABRG2
13 neuropathy, hereditary sensory and autonomic, type vii 10.4 SCN2A SCN1A
14 generalized epilepsy with febrile seizures plus, type 1 10.4 SCN1B SCN1A GABRG2
15 malignant migrating partial seizures of infancy 10.4 SCN2A SCN1A
16 episodic pain syndrome, familial, 2 10.4 SCN2A SCN1A
17 familial hyperaldosteronism 10.3 CLCN2 CACNA1H
18 cataract 1, multiple types 10.3 GJA8 GABRG2
19 landau-kleffner syndrome 10.3 SCN2A SCN1A GABRG2
20 partial motor epilepsy 10.3 SCN2A SCN1A
21 cataract 14, multiple types 10.3 GJA8 GABRG2
22 episodic ataxia, type 1 10.3 SCN1A KCNQ3 CACNB4
23 spinocerebellar ataxia 37 10.3 SAMD12 DAB1
24 progressive myoclonus epilepsy 4 10.3 CSTB CACNA1H
25 generalized epilepsy with febrile seizures plus, type 2 10.3 SCN1B SCN1A GABRG2 GABRD
26 generalized epilepsy with febrile seizures plus, type 7 10.3 SCN1B SCN1A GABRG2 GABRD
27 febrile seizures, familial, 8 10.3 SCN1B SCN1A GABRG2 GABRD
28 epilepsy, familial temporal lobe, 5 10.3 SCN1B SCN1A GABRG2 GABRD
29 epileptic encephalopathy, early infantile, 13 10.3 SCN2A SCN1B SCN1A
30 febrile seizures, familial, 4 10.3 SCN1B SCN1A GABRG2 GABRD
31 epilepsy, familial adult myoclonic, 7 10.3 SAMD12 RAPGEF2 DAB1
32 epilepsy, familial adult myoclonic, 6 10.3 SAMD12 RAPGEF2 DAB1
33 epilepsy, familial adult myoclonic, 1 10.3 SAMD12 RAPGEF2 DAB1
34 epilepsy, familial adult myoclonic, 2 10.3 SAMD12 RAPGEF2 DAB1
35 paramyotonia congenita of von eulenburg 10.2 SCN2A SCN1B SCN1A
36 paroxysmal extreme pain disorder 10.2 SCN2A SCN1B SCN1A
37 low-grade astrocytoma 10.2 SCN2A SCN1A
38 epilepsy, nocturnal frontal lobe, 1 10.2 SCN1B SCN1A KCNQ3 GABRG2
39 febrile seizures, familial, 5 10.2 SCN2A SCN1B SCN1A GABRG2
40 epileptic encephalopathy, early infantile, 14 10.2 SCN2A SCN1A
41 unverricht-lundborg syndrome 10.1 SCN1B KCNQ3 EFHC1 CSTB
42 febrile seizures 10.1 SCN2A SCN1B SCN1A GABRG2 GABRD
43 episodic ataxia 10.1 SCN2A SCN1A KCNQ3 CACNB4
44 visual epilepsy 10.1 SCN2A SCN1B SCN1A GABRG2
45 migraine, familial hemiplegic, 3 10.1 SCN2A SCN1A
46 infancy electroclinical syndrome 10.0 SCN2A SCN1B SCN1A KCNQ3 GABRA1
47 familial febrile seizures 10.0 SCN2A SCN1B SCN1A GABRG2 GABRD EFHC1
48 migraine with or without aura 1 9.9 SCN2A SCN1A KCNQ3 CACNB4 CACNA1H
49 hyperkalemic periodic paralysis 9.9 SCN2A SCN1A
50 febrile seizures, familial, 1 9.9 SCN2A SCN1B SCN1A KCNQ3 GABRG2 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 9.93 BRD2
2 Decreased viability GR00221-A-2 9.93 BRD2 GABRA1
3 Decreased viability GR00221-A-4 9.93 BRD2 GABRA1
4 Decreased viability GR00249-S 9.93 DAB1 GABRB3 GABRD SCN1B SCN2A
5 Decreased viability GR00301-A 9.93 BRD2
6 Decreased viability GR00381-A-1 9.93 CSTB EFHC2 RAPGEF2
7 Decreased viability GR00386-A-1 9.93 CSTB EFHC2 GJA8
8 Decreased viability GR00402-S-2 9.93 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.3 BRD2 CACNA1H CACNB4 CLCN2 CSTB DAB1
2 nervous system MP:0003631 10.19 BRD2 CACNA1H CACNB4 CLCN2 CSTB DAB1
3 growth/size/body region MP:0005378 10.17 BRD2 CACNA1H CACNB4 CSTB DAB1 GABRA1
4 no phenotypic analysis MP:0003012 9.7 CSTB DAB1 GABRA1 GABRB3 GJD2 RAPGEF2
5 reproductive system MP:0005389 9.61 CACNB4 CLCN2 DAB1 GABRA1 GABRB3 GABRD
6 vision/eye MP:0005391 9.23 BRD2 CACNB4 CLCN2 CSTB DAB1 GJA8

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
12.76 KCNQ3 GJD2 GABRG2 GABRB3 GABRA1 CACNB4
4
Show member pathways
12.74 SCN2A SCN1B SCN1A GJD2 GJA8 CACNB4
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 11.4 KCNQ3 CACNB4 CACNA1H
13
Show member pathways
11.2 GABRG2 GABRB3 GABRA1
14 11.06 GABRG2 GABRD GABRB3 GABRA1
15
Show member pathways
10.78 GABRG2 GABRA1
16 10.73 SCN2A SCN1B SCN1A KCNQ3
17 10.15 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 18)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.32 SCN2A SCN1B SCN1A RAPGEF2 KCNQ3 GJD2
2 cell junction GO:0030054 10.04 RAPGEF2 GJD2 GJA8 GABRG2 GABRD GABRB3
3 synapse GO:0045202 10.03 RAPGEF2 KCNQ3 GJD2 GABRG2 GABRD GABRB3
4 integral component of plasma membrane GO:0005887 10 SCN2A SCN1B RAPGEF2 KCNQ3 GJA8 GABRG2
5 neuronal cell body GO:0043025 9.95 SCN1A RAPGEF2 GABRD EFHC1 DAB1
6 neuron projection GO:0043005 9.95 RAPGEF2 GABRG2 GABRD GABRB3 GABRA1 DAB1
7 axon GO:0030424 9.93 SCN2A SCN1B SCN1A GABRG2 GABRD
8 postsynaptic membrane GO:0045211 9.86 GABRG2 GABRD GABRB3 GABRA1
9 GABA-ergic synapse GO:0098982 9.76 GABRG2 GABRD GABRB3 GABRA1
10 T-tubule GO:0030315 9.7 SCN2A SCN1B SCN1A
11 intercalated disc GO:0014704 9.69 SCN2A SCN1B SCN1A
12 GABA-A receptor complex GO:1902711 9.62 GABRG2 GABRD GABRB3 GABRA1
13 connexin complex GO:0005922 9.58 GJD2 GJA8
14 axon initial segment GO:0043194 9.57 SCN1A KCNQ3
15 sodium channel complex GO:0034706 9.54 SCN2A SCN1B SCN1A
16 voltage-gated sodium channel complex GO:0001518 9.46 SCN2A SCN1B SCN1A CACNA1H
17 node of Ranvier GO:0033268 9.26 SCN2A SCN1B SCN1A KCNQ3
18 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 10.05 SCN2A SCN1A KCNQ3 GJD2 GJA8 CLCN2
2 chemical synaptic transmission GO:0007268 9.87 KCNQ3 GJD2 GABRG2 GABRD GABRB3 GABRA1
3 sodium ion transmembrane transport GO:0035725 9.83 SCN2A SCN1B SCN1A CACNA1H
4 chloride transmembrane transport GO:1902476 9.8 GABRG2 GABRD GABRB3 GABRA1 CLCN2
5 sodium ion transport GO:0006814 9.79 SCN2A SCN1B SCN1A
6 chloride transport GO:0006821 9.77 GABRG2 GABRD GABRB3 GABRA1 CLCN2
7 nervous system process GO:0050877 9.76 GABRG2 GABRD GABRB3 GABRA1
8 ion transmembrane transport GO:0034220 9.76 SCN2A SCN1A GABRG2 GABRD GABRB3 GABRA1
9 regulation of postsynaptic membrane potential GO:0060078 9.73 GABRG2 GABRD GABRA1
10 regulation of membrane potential GO:0042391 9.73 SCN1A GABRG2 GABRD GABRB3 GABRA1 CACNA1H
11 neuronal action potential GO:0019228 9.72 SCN2A SCN1A CACNA1H
12 gamma-aminobutyric acid signaling pathway GO:0007214 9.71 GABRG2 GABRB3 GABRA1
13 membrane depolarization during action potential GO:0086010 9.67 SCN2A SCN1A CACNA1H
14 inhibitory synapse assembly GO:1904862 9.65 GABRG2 GABRB3 GABRA1
15 membrane depolarization GO:0051899 9.61 SCN1B CACNB4
16 action potential GO:0001508 9.61 SCN1A GJD2
17 cellular response to histamine GO:0071420 9.61 GABRG2 GABRB3 GABRA1
18 cardiac muscle cell action potential involved in contraction GO:0086002 9.6 SCN1B SCN1A
19 cilium-dependent cell motility GO:0060285 9.59 EFHC2 EFHC1
20 synaptic transmission, GABAergic GO:0051932 9.58 GABRG2 GABRA1
21 cerebral cortex cell migration GO:0021795 9.58 EFHC1 DAB1
22 neuronal action potential propagation GO:0019227 9.57 SCN1B SCN1A
23 regulation of ion transmembrane transport GO:0034765 9.5 SCN2A SCN1B SCN1A KCNQ3 CLCN2 CACNB4
24 ion transport GO:0006811 9.36 SCN2A SCN1B SCN1A KCNQ3 GABRG2 GABRD

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.85 GABRG2 GABRD GABRB3 GABRA1
2 neurotransmitter receptor activity GO:0030594 9.76 GABRG2 GABRD GABRB3 GABRA1
3 extracellular ligand-gated ion channel activity GO:0005230 9.71 GABRG2 GABRD GABRB3 GABRA1
4 cation channel activity GO:0005261 9.67 SCN2A SCN1A CACNA1H
5 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.67 GABRG2 GABRD GABRB3 GABRA1
6 sodium channel activity GO:0005272 9.65 SCN2A SCN1B SCN1A
7 chloride channel activity GO:0005254 9.65 GABRG2 GABRD GABRB3 GABRA1 CLCN2
8 voltage-gated sodium channel activity GO:0005248 9.62 SCN2A SCN1B SCN1A CACNA1H
9 GABA-gated chloride ion channel activity GO:0022851 9.61 GABRG2 GABRB3 GABRA1
10 gap junction channel activity GO:0005243 9.54 GJD2 GJA8
11 benzodiazepine receptor activity GO:0008503 9.52 GABRG2 GABRA1
12 inhibitory extracellular ligand-gated ion channel activity GO:0005237 9.51 GABRG2 GABRA1
13 voltage-gated ion channel activity GO:0005244 9.5 SCN2A SCN1B SCN1A KCNQ3 CLCN2 CACNB4
14 GABA-A receptor activity GO:0004890 9.46 GABRG2 GABRD GABRB3 GABRA1
15 ion channel activity GO:0005216 9.23 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....