Egenskap
Hypsarrhythmia
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
Sammendrag
- Også kalt
- Hypsarrhythmia by EEG
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
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Få mitt Genome Test199 gener knyttet til Hypsarrhythmia
Endringer i disse genene forårsaker sjeldne tilstander der Hypsarrhythmia forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 2 tilstander |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Alltid | I 2 tilstander |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Alltid | I 1 tilstand |
| ARV1ARV1 fatty acid homeostasis modulator | Alltid | I 1 tilstand |
| ARXaristaless related homeobox | Alltid | I 3 tilstander |
| ATP6V1AATPase H+ transporting V1 subunit A | Alltid | I 3 tilstander |
| ATP7AATPase copper transporting alpha | Alltid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| DNM1dynamin 1 | Alltid | I 3 tilstander |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Alltid | I 2 tilstander |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Alltid | I 2 tilstander |
| EPG5ectopic P-granules 5 autophagy tethering factor | Alltid | I 1 tilstand |
| ERMARDER membrane associated RNA degradation | Alltid | I 2 tilstander |
| ESAMendothelial cell adhesion molecule | Alltid | I 1 tilstand |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Alltid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Alltid | I 1 tilstand |
| GOLGA2golgin A2 | Alltid | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Alltid | I 2 tilstander |
| IER3IP1immediate early response 3 interacting protein 1 | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Alltid | I 1 tilstand |
| KLHL20kelch like family member 20 | Alltid | I 1 tilstand |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Alltid | I 1 tilstand |
| MED17mediator complex subunit 17 | Alltid | I 1 tilstand |
| MFFmitochondrial fission factor | Alltid | I 2 tilstander |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Alltid | I 2 tilstander |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Alltid | I 2 tilstander |
| PHACTR1phosphatase and actin regulator 1 | Alltid | I 2 tilstander |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 3 tilstander |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Alltid | I 1 tilstand |
| PLCB1phospholipase C beta 1 | Alltid | I 3 tilstander |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Alltid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Alltid | I 1 tilstand |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Alltid | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Alltid | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Alltid | I 2 tilstander |
| CDKL5cyclin dependent kinase like 5 | Svært ofte (80–99 %) | I 4 tilstander |
| CNPY3canopy FGF signaling regulator 3 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 159 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| GUF1GTP binding elongation factor GUF1 | Svært ofte (80–99 %) | I 2 tilstander |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Svært ofte (80–99 %) | I 3 tilstander |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Svært ofte (80–99 %) | I 3 tilstander |
| SIK1salt inducible kinase 1 | Svært ofte (80–99 %) | I 3 tilstander |
| SLC35A2solute carrier family 35 member A2 | Svært ofte (80–99 %) | I 2 tilstander |
| SPOUT1SPOUT domain containing methyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Svært ofte (80–99 %) | I 2 tilstander |
| WDR45WD repeat domain 45 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Svært ofte (80–99 %) | I 2 tilstander |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Ofte (30–79 %) | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Ofte (30–79 %) | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ofte (30–79 %) | I 2 tilstander |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Ofte (30–79 %) | I 2 tilstander |
| COX4I1cytochrome c oxidase subunit 4I1 | Ofte (30–79 %) | I 1 tilstand |
| CUL3cullin 3 | Ofte (30–79 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ofte (30–79 %) | I 2 tilstander |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Ofte (30–79 %) | I 1 tilstand |
| DOCK7dedicator of cytokinesis 7 | Ofte (30–79 %) | I 2 tilstander |
| EPM2AEPM2A glucan phosphatase, laforin | Ofte (30–79 %) | I 1 tilstand |
| EXOC8exocyst complex component 8 | Ofte (30–79 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ofte (30–79 %) | I 2 tilstander |
| FGF13fibroblast growth factor 13 | Ofte (30–79 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| GNAO1G protein subunit alpha o1 | Ofte (30–79 %) | I 2 tilstander |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Ofte (30–79 %) | I 2 tilstander |
| GRM7glutamate metabotropic receptor 7 | Ofte (30–79 %) | I 1 tilstand |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Ofte (30–79 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Ofte (30–79 %) | I 2 tilstander |
| LGI1leucine rich glioma inactivated 1 | Ofte (30–79 %) | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Ofte (30–79 %) | I 2 tilstander |
| NACC1nucleus accumbens associated 1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Ofte (30–79 %) | I 1 tilstand |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| OTUD7AOTU deubiquitinase 7A | Ofte (30–79 %) | I 1 tilstand |
| PCDH12protocadherin 12 | Ofte (30–79 %) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ofte (30–79 %) | I 2 tilstander |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Ofte (30–79 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ofte (30–79 %) | I 2 tilstander |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 2 tilstander |
| SLC25A22solute carrier family 25 member 22 | Ofte (30–79 %) | I 2 tilstander |
| SLC32A1solute carrier family 32 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 2 tilstander |
| TGFB1transforming growth factor beta 1 | Ofte (30–79 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Ofte (30–79 %) | I 2 tilstander |
| TRA2Btransformer 2 beta homolog | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Ofte (30–79 %) | I 2 tilstander |
| TUBB2Atubulin beta 2A class IIa | Ofte (30–79 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Noen ganger (5–29 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 2 tilstander |
| APC2APC regulator of Wnt signaling pathway 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ASPAaspartoacylase | Noen ganger (5–29 %) | I 1 tilstand |
| ATN1atrophin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Noen ganger (5–29 %) | I 2 tilstander |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNA2catenin alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CUX2cut like homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DCXdoublecortin | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 2 tilstander |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DOLKdolichol kinase | Noen ganger (5–29 %) | I 2 tilstander |
| FBXO28F-box protein 28 | Noen ganger (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Noen ganger (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Noen ganger (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Noen ganger (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Noen ganger (5–29 %) | I 2 tilstander |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB5G protein subunit beta 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HCFC1host cell factor C1 | Noen ganger (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HID1HID1 domain containing | Noen ganger (5–29 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Noen ganger (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 2 tilstander |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Noen ganger (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 3 tilstander |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC12A5solute carrier family 12 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Noen ganger (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UPB1beta-ureidopropionase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF526zinc finger protein 526 | Noen ganger (5–29 %) | I 1 tilstand |
| NPRL2NPR2 like, GATOR1 complex subunit | Sjelden (1–4%) | I 1 tilstand |
| NPRL3NPR3 like, GATOR1 complex subunit | Sjelden (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjelden (1–4%) | I 2 tilstander |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Ikke registrert | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registrert | I 1 tilstand |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Ikke registrert | I 1 tilstand |
| GLYCTKglycerate kinase | Ikke registrert | I 1 tilstand |
| MDH1malate dehydrogenase 1 | Ikke registrert | I 1 tilstand |
| NF1neurofibromin 1 | Ikke registrert | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registrert | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Ikke registrert | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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