ECA5
MCID: EPL136
MIFTS: 27

Epilepsy, Childhood Absence 5 (ECA5)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Childhood Absence 5

MalaCards integrated aliases for Epilepsy, Childhood Absence 5:

Name: Epilepsy, Childhood Absence 5 57 73 29 6
Epilepsy, Childhood Absence, Susceptibility to, 5 57 13
Eca5 57 73
Epilepsy, Childhood Absence, Type 5 39

Characteristics:

HPO:

31
epilepsy, childhood absence 5:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM® 57 612269
OMIM Phenotypic Series 57 PS600131
MeSH 44 D004832
MedGen 41 C2677087

Summaries for Epilepsy, Childhood Absence 5

UniProtKB/Swiss-Prot : 73 Epilepsy, childhood absence 5: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic- clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.

MalaCards based summary : Epilepsy, Childhood Absence 5, also known as epilepsy, childhood absence, susceptibility to, 5, is related to epilepsy, childhood absence 1 and childhood absence epilepsy. An important gene associated with Epilepsy, Childhood Absence 5 is GABRB3 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3), and among its related pathways/superpathways is Ion channel transport. Related phenotypes are generalized non-motor (absence) seizure and Decreased shRNA abundance (Z-score < -2)

More information from OMIM: 612269 PS600131

Related Diseases for Epilepsy, Childhood Absence 5

Diseases in the Childhood Absence Epilepsy family:

Epilepsy, Childhood Absence 1 Epilepsy, Childhood Absence 6
Epilepsy, Childhood Absence 5

Diseases related to Epilepsy, Childhood Absence 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epilepsy, childhood absence 1 9.7 GABRB3 ATP10A
2 childhood absence epilepsy 9.7 GABRB3 ATP10A
3 angelman syndrome 9.7 GABRB3 ATP10A
4 prader-willi syndrome 9.7 GABRB3 ATP10A
5 alacrima, achalasia, and mental retardation syndrome 9.6 GABRB3 ATP10A
6 autism 9.6 GABRB3 ATP10A
7 autism spectrum disorder 9.5 GABRB3 ATP10A

Graphical network of the top 20 diseases related to Epilepsy, Childhood Absence 5:



Diseases related to Epilepsy, Childhood Absence 5

Symptoms & Phenotypes for Epilepsy, Childhood Absence 5

Human phenotypes related to Epilepsy, Childhood Absence 5:

31
# Description HPO Frequency HPO Source Accession
1 generalized non-motor (absence) seizure 31 HP:0002121

Clinical features from OMIM®:

612269 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Epilepsy, Childhood Absence 5 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.36 ATP10A
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.36 GABRB3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.36 GABRB3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.36 ATP10A
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.36 ATP10A GABRB3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.36 GABRB3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.36 ATP10A
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.36 GABRB3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.36 GABRB3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.36 GABRB3

Drugs & Therapeutics for Epilepsy, Childhood Absence 5

Search Clinical Trials , NIH Clinical Center for Epilepsy, Childhood Absence 5

Genetic Tests for Epilepsy, Childhood Absence 5

Genetic tests related to Epilepsy, Childhood Absence 5:

# Genetic test Affiliating Genes
1 Epilepsy, Childhood Absence 5 29 GABRB3

Anatomical Context for Epilepsy, Childhood Absence 5

Publications for Epilepsy, Childhood Absence 5

Articles related to Epilepsy, Childhood Absence 5:

(show all 16)
# Title Authors PMID Year
1
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 57 6
18514161 2008
2
A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. 57
16835263 2006
3
Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses. 61
33256610 2020
4
Key role of lipid management in nitrogen and aroma metabolism in an evolved wine yeast strain. 61
26861624 2016
5
Impact of available nitrogen and sugar concentration in musts on alcoholic fermentation and subsequent wine spoilage by Brettanomyces bruxellensis. 61
25475334 2015
6
Combined effects of nutrients and temperature on the production of fermentative aromas by Saccharomyces cerevisiae during wine fermentation. 61
25412578 2015
7
Dynamics and quantitative analysis of the synthesis of fermentative aromas by an evolved wine strain of Saccharomyces cerevisiae. 61
24989462 2015
8
Selection of DNA aptamers against uropathogenic Escherichia coli NSM59 by quantitative PCR controlled Cell-SELEX. 61
25008464 2014
9
Pilot-scale evaluation the enological traits of a novel, aromatic wine yeast strain obtained by adaptive evolution. 61
22986198 2012
10
The identification of SNPs with indeterminate positions using the Equine SNP50 BeadChip. 61
22486508 2012
11
Evolutionary engineered Saccharomyces cerevisiae wine yeast strains with increased in vivo flux through the pentose phosphate pathway. 61
21300171 2011
12
Refinement of a quantitative trait locus on equine chromosome 5 responsible for fetlock osteochondrosis in Hanoverian warmblood horses. 61
19392821 2009
13
Shielding design of an underground experimental area at point 5 of the CERN Super Proton Synchrotron (SPS). 61
16381709 2005
14
Karyotypic relationships of horses and zebras: results of cross-species chromosome painting. 61
14970709 2003
15
FISH analysis comparing genome organization in the domestic horse (Equus caballus) to that of the Mongolian wild horse (E. przewalskii). 61
14970707 2003
16
A primary male autosomal linkage map of the horse genome. 61
9750194 1998

Variations for Epilepsy, Childhood Absence 5

ClinVar genetic disease variations for Epilepsy, Childhood Absence 5:

6 (show top 50) (show all 107)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GABRB3 NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg) SNV Pathogenic 374687 rs1057519201 15:26866542-26866542 15:26621395-26621395
2 GABRB3 NC_000015.10:g.(?_26547773)_(26775295_?)del Deletion Pathogenic 469568 15:26547773-26775295
3 GABRB3 NC_000015.10:g.(?_26567561)_(26629023_?)del Deletion Pathogenic 537298 15:26812708-26874170 15:26567561-26629023
4 GABRB3 NM_000814.6(GABRB3):c.504C>A (p.Tyr168Ter) SNV Pathogenic 409956 rs1060502665 15:26828519-26828519 15:26583372-26583372
5 GABRB3 NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter) SNV Pathogenic 653036 rs942355738 15:26866591-26866591 15:26621444-26621444
6 GABRB3 NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln) SNV Pathogenic 393256 rs797045045 15:26812868-26812868 15:26567721-26567721
7 ATP10A NC_000015.10:g.(?_25862297)_(26937328_?)del Deletion Pathogenic 833345 15:26107444-27182475
8 GABRB3 NC_000015.10:g.(?_26547773)_(26583434_?)del Deletion Pathogenic 833422 15:26792920-26828581
9 GABRB3 NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys) SNV Pathogenic 839250 15:26806254-26806254 15:26561107-26561107
10 GABRB3 NM_000814.6(GABRB3):c.405del (p.Thr135_Val136insTer) Deletion Pathogenic 942245 15:26866517-26866517 15:26621370-26621370
11 GABRB3 NM_000814.6(GABRB3):c.1054del (p.Asp352fs) Deletion Pathogenic 943697 15:26806105-26806105 15:26560958-26560958
12 GABRB3 NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr) SNV Pathogenic 948660 15:26812806-26812806 15:26567659-26567659
13 GABRB3 NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter) SNV Pathogenic 488884 rs1555368345 15:26825568-26825568 15:26580421-26580421
14 GABRB3 NM_000814.6(GABRB3):c.172+1del Deletion Pathogenic 969517 15:27017827-27017827 15:26772680-26772680
15 GABRB3 NM_000814.6(GABRB3):c.467C>A (p.Thr156Asn) SNV Likely pathogenic 856080 15:26828556-26828556 15:26583409-26583409
16 GABRB3 NM_000814.6(GABRB3):c.901C>T (p.Pro301Ser) SNV Likely pathogenic 975243 15:26806258-26806258 15:26561111-26561111
17 GABRB3 NM_000814.6(GABRB3):c.917T>C (p.Ile306Thr) SNV Likely pathogenic 945555 15:26806242-26806242 15:26561095-26561095
18 GABRB3 NM_000814.6(GABRB3):c.902C>T (p.Pro301Leu) SNV Likely pathogenic 837360 15:26806257-26806257 15:26561110-26561110
19 GABRB3 NM_000814.6(GABRB3):c.895A>C (p.Lys299Gln) SNV Likely pathogenic 582255 rs1567106381 15:26806264-26806264 15:26561117-26561117
20 GABRB3 NM_000814.6(GABRB3):c.766C>G (p.Leu256Val) SNV Likely pathogenic 435274 rs1555401942 15:26812797-26812797 15:26567650-26567650
21 GABRB3 NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe) SNV risk factor 16192 rs121913126 15:27018828-27018828 15:26773681-26773681
22 GABRB3 NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg) SNV risk factor 16193 rs71651682 15:27017906-27017906 15:26772759-26772759
23 GABRB3 NM_000814.6(GABRB3):c.695G>C (p.Arg232Pro) SNV Likely pathogenic 209156 rs797045045 15:26812868-26812868 15:26567721-26567721
24 GABRB3 NM_000814.5(GABRB3):c.-114_*4247del Deletion Uncertain significance 238187 15:26788693-27018223 15:26543546-26773076
25 GABRB3 NM_000814.6(GABRB3):c.487A>G (p.Met163Val) SNV Uncertain significance 409957 rs1060502666 15:26828536-26828536 15:26583389-26583389
26 GABRB3 NM_000814.6(GABRB3):c.217G>C (p.Asp73His) SNV Uncertain significance 409958 rs768859258 15:27017572-27017572 15:26772425-26772425
27 GABRB3 NM_000814.6(GABRB3):c.682_682+3dup Duplication Uncertain significance 469575 rs1254941219 15:26825462-26825463 15:26580315-26580316
28 GABRB3 NM_000814.6(GABRB3):c.175C>T (p.Pro59Ser) SNV Uncertain significance 469573 rs1555383878 15:27017614-27017614 15:26772467-26772467
29 GABRB3 NM_000814.6(GABRB3):c.1078C>T (p.Arg360Trp) SNV Uncertain significance 469571 rs771568810 15:26806081-26806081 15:26560934-26560934
30 GABRB3 NM_000814.6(GABRB3):c.418A>G (p.Met140Val) SNV Uncertain significance 469574 rs1555371848 15:26866504-26866504 15:26621357-26621357
31 GABRB3 NC_000015.9:g.(?_26792920)_(27020442_?)dup Duplication Uncertain significance 469569 15:26547773-26775295
32 GABRB3 NM_000814.6(GABRB3):c.995T>C (p.Phe332Ser) SNV Uncertain significance 537286 rs1555401411 15:26806164-26806164 15:26561017-26561017
33 GABRB3 NM_000814.6(GABRB3):c.910A>G (p.Lys304Glu) SNV Uncertain significance 537287 rs1555401426 15:26806249-26806249 15:26561102-26561102
34 GABRB3 NM_000814.6(GABRB3):c.506C>T (p.Pro169Leu) SNV Uncertain significance 537288 rs1555368630 15:26828517-26828517 15:26583370-26583370
35 GABRB3 NM_000814.6(GABRB3):c.1021A>C (p.Lys341Gln) SNV Uncertain significance 537289 rs761102474 15:26806138-26806138 15:26560991-26560991
36 GABRB3 NM_000814.6(GABRB3):c.417C>T (p.Arg139=) SNV Uncertain significance 537291 rs933729675 15:26866505-26866505 15:26621358-26621358
37 GABRB3 NM_000814.6(GABRB3):c.712C>T (p.Arg238Trp) SNV Uncertain significance 537292 rs144496462 15:26812851-26812851 15:26567704-26567704
38 GABRB3 NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) SNV Uncertain significance 537293 rs756369937 15:26866630-26866630 15:26621483-26621483
39 GABRB3 NM_000814.6(GABRB3):c.758C>A (p.Pro253His) SNV Uncertain significance 582321 rs1064796514 15:26812805-26812805 15:26567658-26567658
40 GABRB3 NC_000015.9:g.(?_26792920)_(27018162_?)dup Duplication Uncertain significance 583530 15:26792920-27018162 15:26547773-26773015
41 GABRB3 NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) SNV Uncertain significance 571274 rs769801846 15:26825591-26825591 15:26580444-26580444
42 GABRB3 NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) SNV Uncertain significance 537293 rs756369937 15:26866630-26866630 15:26621483-26621483
43 GABRB3 NM_000814.6(GABRB3):c.428T>G (p.Leu143Arg) SNV Uncertain significance 640537 rs1595489812 15:26866494-26866494 15:26621347-26621347
44 GABRB3 NM_021912.5(GABRB3):c.2T>C (p.Met1Thr) SNV Uncertain significance 649834 rs1595364724 15:27018870-27018870 15:26773723-26773723
45 GABRB3 NM_000814.6(GABRB3):c.1153A>G (p.Ile385Val) SNV Uncertain significance 652737 rs1352939866 15:26793209-26793209 15:26548062-26548062
46 GABRB3 NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser) SNV Uncertain significance 653022 rs763319754 15:26806107-26806107 15:26560960-26560960
47 GABRB3 NM_000814.6(GABRB3):c.701C>T (p.Ser234Leu) SNV Uncertain significance 572302 rs1567113254 15:26812862-26812862 15:26567715-26567715
48 GABRB3 NM_000814.6(GABRB3):c.296A>G (p.Tyr99Cys) SNV Uncertain significance 575460 rs1566778864 15:26866626-26866626 15:26621479-26621479
49 GABRB3 NM_000814.6(GABRB3):c.835+5G>A SNV Uncertain significance 565504 rs374357218 15:26812723-26812723 15:26567576-26567576
50 GABRB3 NM_000814.6(GABRB3):c.1039G>C (p.Ala347Pro) SNV Uncertain significance 567268 rs1365439059 15:26806120-26806120 15:26560973-26560973

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Childhood Absence 5:

73
# Symbol AA change Variation ID SNP ID
1 GABRB3 p.Gly32Arg VAR_047957 rs71651682

Expression for Epilepsy, Childhood Absence 5

Search GEO for disease gene expression data for Epilepsy, Childhood Absence 5.

Pathways for Epilepsy, Childhood Absence 5

Pathways related to Epilepsy, Childhood Absence 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.12 GABRB3 ATP10A

GO Terms for Epilepsy, Childhood Absence 5

Biological processes related to Epilepsy, Childhood Absence 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 8.62 GABRB3 ATP10A

Sources for Epilepsy, Childhood Absence 5

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