Pereiti prie turinio
Naudokite savo HSA ar FSA lėšas

Požymis

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).

HPO HP:0002521

Santrauka

Taip pat vadinama
Hypsarrhythmia by EEG
Kūno sistema
Abnormality of the nervous system

199 genų susiję su Hypsarrhythmia

Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Hypsarrhythmia. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.

GenasKaip dažnai pasireiškiaLigos
ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitVisada2 ligose
ALG2ALG2 alpha-1,3/1,6-mannosyltransferaseVisada2 ligose
ARFGEF1ARF guanine nucleotide exchange factor 1Visada1 ligoje
ARV1ARV1 fatty acid homeostasis modulatorVisada1 ligoje
ARXaristaless related homeoboxVisada3 ligose
ATP6V1AATPase H+ transporting V1 subunit AVisada3 ligose
ATP7AATPase copper transporting alphaVisada1 ligoje
CCDC88Acoiled-coil and HOOK domain protein 88AVisada1 ligoje
CHASERRCHD2 adjacent suppressive regulatory RNAVisada1 ligoje
DNM1dynamin 1Visada3 ligose
DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1Visada2 ligose
EEF1A2eukaryotic translation elongation factor 1 alpha 2Visada2 ligose
EPG5ectopic P-granules 5 autophagy tethering factorVisada1 ligoje
ERMARDER membrane associated RNA degradationVisada2 ligose
ESAMendothelial cell adhesion moleculeVisada1 ligoje
GABRB1gamma-aminobutyric acid type A receptor subunit beta1Visada1 ligoje
GCSHglycine cleavage system protein HVisada1 ligoje
GOLGA2golgin A2Visada1 ligoje
GRIN2Bglutamate ionotropic receptor NMDA type subunit 2BVisada2 ligose
IER3IP1immediate early response 3 interacting protein 1Visada1 ligoje
INPP4Ainositol polyphosphate-4-phosphatase type I AVisada1 ligoje
KCNT2potassium sodium-activated channel subfamily T member 2Visada1 ligoje
KLHL20kelch like family member 20Visada1 ligoje
MCCC1methylcrotonyl-CoA carboxylase subunit 1Visada1 ligoje
MED17mediator complex subunit 17Visada1 ligoje
MFFmitochondrial fission factorVisada2 ligose
MSL2MSL complex subunit 2Visada1 ligoje
NEUROD2neuronal differentiation 2Visada2 ligose
PARS2prolyl-tRNA synthetase 2, mitochondrialVisada2 ligose
PHACTR1phosphatase and actin regulator 1Visada2 ligose
PIGAphosphatidylinositol glycan anchor biosynthesis class AVisada3 ligose
PIGWphosphatidylinositol glycan anchor biosynthesis class WVisada1 ligoje
PLCB1phospholipase C beta 1Visada3 ligose
PTPN23protein tyrosine phosphatase non-receptor type 23Visada1 ligoje
SMC1Astructural maintenance of chromosomes 1AVisada1 ligoje
ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3Visada1 ligoje
TBL1XR1TBL1X/Y related 1Visada1 ligoje
TRIM8tripartite motif containing 8Visada2 ligose
CDKL5cyclin dependent kinase like 5Labai dažnai (80–99%)4 ligose
CNPY3canopy FGF signaling regulator 3Labai dažnai (80–99%)1 ligoje
Rodyti dar 159 genų
GenasKaip dažnai pasireiškiaLigos
GUF1GTP binding elongation factor GUF1Labai dažnai (80–99%)2 ligose
NTRK2neurotrophic receptor tyrosine kinase 2Labai dažnai (80–99%)3 ligose
SCN2Asodium voltage-gated channel alpha subunit 2Labai dažnai (80–99%)3 ligose
SIK1salt inducible kinase 1Labai dažnai (80–99%)3 ligose
SLC35A2solute carrier family 35 member A2Labai dažnai (80–99%)2 ligose
SPOUT1SPOUT domain containing methyltransferase 1Labai dažnai (80–99%)1 ligoje
SPTAN1spectrin alpha, non-erythrocytic 1Labai dažnai (80–99%)2 ligose
WDR45WD repeat domain 45Labai dažnai (80–99%)1 ligoje
ZNHIT3zinc finger HIT-type containing 3Labai dažnai (80–99%)2 ligose
ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunitDažnai (30–79%)1 ligoje
ASNSasparagine synthetase (glutamine-hydrolyzing)Dažnai (30–79%)1 ligoje
ATAD1ATPase family AAA domain containing 1Dažnai (30–79%)1 ligoje
ATP6V0A1ATPase H+ transporting V0 subunit a1Dažnai (30–79%)1 ligoje
CACNA1Ecalcium voltage-gated channel subunit alpha1 EDažnai (30–79%)2 ligose
CASKcalcium/calmodulin dependent serine protein kinaseDažnai (30–79%)1 ligoje
CELF2CUGBP Elav-like family member 2Dažnai (30–79%)2 ligose
COX4I1cytochrome c oxidase subunit 4I1Dažnai (30–79%)1 ligoje
CUL3cullin 3Dažnai (30–79%)1 ligoje
CYFIP2cytoplasmic FMR1 interacting protein 2Dažnai (30–79%)2 ligose
D2HGDHD-2-hydroxyglutarate dehydrogenaseDažnai (30–79%)1 ligoje
DMXL2Dmx like 2Dažnai (30–79%)1 ligoje
DOCK7dedicator of cytokinesis 7Dažnai (30–79%)2 ligose
EPM2AEPM2A glucan phosphatase, laforinDažnai (30–79%)1 ligoje
EXOC8exocyst complex component 8Dažnai (30–79%)1 ligoje
FGF12fibroblast growth factor 12Dažnai (30–79%)2 ligose
FGF13fibroblast growth factor 13Dažnai (30–79%)1 ligoje
GABBR2gamma-aminobutyric acid type B receptor subunit 2Dažnai (30–79%)2 ligose
GNAO1G protein subunit alpha o1Dažnai (30–79%)2 ligose
GRIN1glutamate ionotropic receptor NMDA type subunit 1Dažnai (30–79%)1 ligoje
GRIN2Dglutamate ionotropic receptor NMDA type subunit 2DDažnai (30–79%)2 ligose
GRM7glutamate metabotropic receptor 7Dažnai (30–79%)1 ligoje
HIBCH3-hydroxyisobutyryl-CoA hydrolaseDažnai (30–79%)1 ligoje
KCNA1potassium voltage-gated channel subfamily A member 1Dažnai (30–79%)1 ligoje
KCNB1potassium voltage-gated channel subfamily B member 1Dažnai (30–79%)2 ligose
LGI1leucine rich glioma inactivated 1Dažnai (30–79%)1 ligoje
MPDU1mannose-P-dolichol utilization defect 1Dažnai (30–79%)2 ligose
NACC1nucleus accumbens associated 1Dažnai (30–79%)1 ligoje
NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8Dažnai (30–79%)1 ligoje
NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1Dažnai (30–79%)1 ligoje
OTUD7AOTU deubiquitinase 7ADažnai (30–79%)1 ligoje
PCDH12protocadherin 12Dažnai (30–79%)1 ligoje
PIGPphosphatidylinositol glycan anchor biosynthesis class PDažnai (30–79%)2 ligose
PIGQphosphatidylinositol glycan anchor biosynthesis class QDažnai (30–79%)1 ligoje
PLAAphospholipase A2 activating proteinDažnai (30–79%)1 ligoje
PNKPpolynucleotide kinase 3'-phosphataseDažnai (30–79%)1 ligoje
PPP3CAprotein phosphatase 3 catalytic subunit alphaDažnai (30–79%)2 ligose
RHOBTB2Rho related BTB domain containing 2Dažnai (30–79%)1 ligoje
RUSC2RUN and SH3 domain containing 2Dažnai (30–79%)1 ligoje
SCN1Bsodium voltage-gated channel beta subunit 1Dažnai (30–79%)1 ligoje
SLC1A2solute carrier family 1 member 2Dažnai (30–79%)2 ligose
SLC25A22solute carrier family 25 member 22Dažnai (30–79%)2 ligose
SLC32A1solute carrier family 32 member 1Dažnai (30–79%)1 ligoje
SYNJ1synaptojanin 1Dažnai (30–79%)2 ligose
TGFB1transforming growth factor beta 1Dažnai (30–79%)1 ligoje
TIMM50translocase of inner mitochondrial membrane 50Dažnai (30–79%)2 ligose
TRA2Btransformer 2 beta homologDažnai (30–79%)1 ligoje
TRAPPC12trafficking protein particle complex subunit 12Dažnai (30–79%)2 ligose
TUBB2Atubulin beta 2A class IIaDažnai (30–79%)1 ligoje
UNC13Aunc-13 homolog ADažnai (30–79%)1 ligoje
AARS1alanyl-tRNA synthetase 1Kartais (5–29%)1 ligoje
ABCC8ATP binding cassette subfamily C member 8Kartais (5–29%)1 ligoje
ACTL6Bactin like 6BKartais (5–29%)1 ligoje
AFG2AAAA ATPase AFG2AKartais (5–29%)1 ligoje
ALDH7A1aldehyde dehydrogenase 7 family member A1Kartais (5–29%)1 ligoje
AP3B2adaptor related protein complex 3 subunit beta 2Kartais (5–29%)2 ligose
APC2APC regulator of Wnt signaling pathway 2Kartais (5–29%)1 ligoje
ASPAaspartoacylaseKartais (5–29%)1 ligoje
ATN1atrophin 1Kartais (5–29%)1 ligoje
ATP1A2ATPase Na+/K+ transporting subunit alpha 2Kartais (5–29%)1 ligoje
ATP1A3ATPase Na+/K+ transporting subunit alpha 3Kartais (5–29%)1 ligoje
CACNA1Acalcium voltage-gated channel subunit alpha1 AKartais (5–29%)1 ligoje
CACNA1Bcalcium voltage-gated channel subunit alpha1 BKartais (5–29%)1 ligoje
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1Kartais (5–29%)1 ligoje
CAMSAP1calmodulin regulated spectrin associated protein 1Kartais (5–29%)1 ligoje
CAPRIN1cell cycle associated protein 1Kartais (5–29%)1 ligoje
CDK19cyclin dependent kinase 19Kartais (5–29%)2 ligose
CLTCclathrin heavy chainKartais (5–29%)1 ligoje
CNKSR2connector enhancer of kinase suppressor of Ras 2Kartais (5–29%)1 ligoje
CTNNA2catenin alpha 2Kartais (5–29%)1 ligoje
CUX2cut like homeobox 2Kartais (5–29%)1 ligoje
DALRD3DALR anticodon binding domain containing 3Kartais (5–29%)1 ligoje
DCXdoublecortinKartais (5–29%)1 ligoje
DEPDC5DEP domain containing 5, GATOR1 subcomplex subunitKartais (5–29%)2 ligose
DHDDSdehydrodolichyl diphosphate synthase subunitKartais (5–29%)1 ligoje
DOLKdolichol kinaseKartais (5–29%)2 ligose
FBXO28F-box protein 28Kartais (5–29%)1 ligoje
FHfumarate hydrataseKartais (5–29%)1 ligoje
FOXG1forkhead box G1Kartais (5–29%)1 ligoje
FZR1fizzy and cell division cycle 20 related 1Kartais (5–29%)1 ligoje
GABRA2gamma-aminobutyric acid type A receptor subunit alpha2Kartais (5–29%)1 ligoje
GABRA5gamma-aminobutyric acid type A receptor subunit alpha5Kartais (5–29%)1 ligoje
GABRB2gamma-aminobutyric acid type A receptor subunit beta2Kartais (5–29%)1 ligoje
GABRB3gamma-aminobutyric acid type A receptor subunit beta3Kartais (5–29%)1 ligoje
GABRG2gamma-aminobutyric acid type A receptor subunit gamma2Kartais (5–29%)1 ligoje
GAD1glutamate decarboxylase 1Kartais (5–29%)1 ligoje
GFM2GTP dependent ribosome recycling factor mitochondrial 2Kartais (5–29%)2 ligose
GNB1G protein subunit beta 1Kartais (5–29%)1 ligoje
GNB5G protein subunit beta 5Kartais (5–29%)1 ligoje
HCFC1host cell factor C1Kartais (5–29%)1 ligoje
HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1Kartais (5–29%)1 ligoje
HID1HID1 domain containingKartais (5–29%)1 ligoje
HMGCL3-hydroxy-3-methylglutaryl-CoA lyaseKartais (5–29%)1 ligoje
IARS2isoleucyl-tRNA synthetase 2, mitochondrialKartais (5–29%)2 ligose
KCNA2potassium voltage-gated channel subfamily A member 2Kartais (5–29%)1 ligoje
KCNC2potassium voltage-gated channel subfamily C member 2Kartais (5–29%)2 ligose
KCNH5potassium voltage-gated channel subfamily H member 5Kartais (5–29%)1 ligoje
KCNJ11potassium inwardly rectifying channel subfamily J member 11Kartais (5–29%)2 ligose
KCNQ2potassium voltage-gated channel subfamily Q member 2Kartais (5–29%)2 ligose
KCNT1potassium sodium-activated channel subfamily T member 1Kartais (5–29%)1 ligoje
LONP1lon peptidase 1, mitochondrialKartais (5–29%)1 ligoje
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2Kartais (5–29%)1 ligoje
MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferaseKartais (5–29%)1 ligoje
MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1Kartais (5–29%)1 ligoje
NARS2asparaginyl-tRNA synthetase 2, mitochondrialKartais (5–29%)1 ligoje
NAXDNAD(P)HX dehydrataseKartais (5–29%)1 ligoje
NECAP1NECAP endocytosis associated 1Kartais (5–29%)1 ligoje
NEDD4LNEDD4 like E3 ubiquitin protein ligaseKartais (5–29%)1 ligoje
NEXMIFneurite extension and migration factorKartais (5–29%)1 ligoje
NUS1NUS1 dehydrodolichyl diphosphate synthase subunitKartais (5–29%)1 ligoje
PACS2phosphofurin acidic cluster sorting protein 2Kartais (5–29%)1 ligoje
PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1Kartais (5–29%)1 ligoje
PDHA1pyruvate dehydrogenase E1 subunit alpha 1Kartais (5–29%)1 ligoje
PI4K2Aphosphatidylinositol 4-kinase type 2 alphaKartais (5–29%)1 ligoje
PLPBPpyridoxal phosphate binding proteinKartais (5–29%)1 ligoje
PPFIBP1PPFIB scaffold protein 1Kartais (5–29%)1 ligoje
PTS6-pyruvoyltetrahydropterin synthaseKartais (5–29%)1 ligoje
SATB1SATB homeobox 1Kartais (5–29%)1 ligoje
SCN1Asodium voltage-gated channel alpha subunit 1Kartais (5–29%)2 ligose
SCN3Asodium voltage-gated channel alpha subunit 3Kartais (5–29%)3 ligose
SCN8Asodium voltage-gated channel alpha subunit 8Kartais (5–29%)1 ligoje
SLC12A5solute carrier family 12 member 5Kartais (5–29%)1 ligoje
SLC13A5solute carrier family 13 member 5Kartais (5–29%)1 ligoje
SLC1A4solute carrier family 1 member 4Kartais (5–29%)1 ligoje
SLC38A3solute carrier family 38 member 3Kartais (5–29%)1 ligoje
SLC39A8solute carrier family 39 member 8Kartais (5–29%)1 ligoje
STXBP1syntaxin binding protein 1Kartais (5–29%)2 ligose
SYNGAP1synaptic Ras GTPase activating protein 1Kartais (5–29%)1 ligoje
SZT2SZT2 subunit of KICSTOR complexKartais (5–29%)1 ligoje
TBC1D24TBC1 domain family member 24Kartais (5–29%)1 ligoje
TRAK1trafficking kinesin protein 1Kartais (5–29%)1 ligoje
UBA5ubiquitin like modifier activating enzyme 5Kartais (5–29%)1 ligoje
UFC1ubiquitin-fold modifier conjugating enzyme 1Kartais (5–29%)1 ligoje
UFSP2UFM1 specific peptidase 2Kartais (5–29%)1 ligoje
UPB1beta-ureidopropionase 1Kartais (5–29%)1 ligoje
YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gammaKartais (5–29%)1 ligoje
ZNF526zinc finger protein 526Kartais (5–29%)1 ligoje
NPRL2NPR2 like, GATOR1 complex subunitRetai (1–4 %)1 ligoje
NPRL3NPR3 like, GATOR1 complex subunitRetai (1–4 %)1 ligoje
SETBP1SET binding protein 1Retai (1–4 %)2 ligose
SPTBN1spectrin beta, non-erythrocytic 1Retai (1–4 %)1 ligoje
AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2Neužfiksuota1 ligoje
ALG3ALG3 alpha-1,3- mannosyltransferaseNeužfiksuota1 ligoje
ARFGEF2ARF guanine nucleotide exchange factor 2Neužfiksuota1 ligoje
GLYCTKglycerate kinaseNeužfiksuota1 ligoje
MDH1malate dehydrogenase 1Neužfiksuota1 ligoje
NF1neurofibromin 1Neužfiksuota1 ligoje
PHGDHphosphoglycerate dehydrogenaseNeužfiksuota1 ligoje
ROGDIrogdi atypical leucine zipperNeužfiksuota1 ligoje
UGDHUDP-glucose 6-dehydrogenaseNeužfiksuota1 ligoje

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Platesni požymiai

EEG with generalized epileptiform discharges

Iš kur tai žinoma

  • Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
  • Duomenų leidimas 2026.10.17-8666dff2.

Vienas testas. Atsakymai visam gyvenimui.

Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites

Įsigyti savo Genome Test