Kenmerk
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).
Samenvatting
- Ook bekend als
- Hypsarrhythmia by EEG
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Hypsarrhythmia voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Altijd | In 2 aandoeningen |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Altijd | In 2 aandoeningen |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Altijd | In 1 aandoening |
| ARV1ARV1 fatty acid homeostasis modulator | Altijd | In 1 aandoening |
| ARXaristaless related homeobox | Altijd | In 3 aandoeningen |
| ATP6V1AATPase H+ transporting V1 subunit A | Altijd | In 3 aandoeningen |
| ATP7AATPase copper transporting alpha | Altijd | In 1 aandoening |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altijd | In 1 aandoening |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altijd | In 1 aandoening |
| DNM1dynamin 1 | Altijd | In 3 aandoeningen |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Altijd | In 2 aandoeningen |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Altijd | In 2 aandoeningen |
| EPG5ectopic P-granules 5 autophagy tethering factor | Altijd | In 1 aandoening |
| ERMARDER membrane associated RNA degradation | Altijd | In 2 aandoeningen |
| ESAMendothelial cell adhesion molecule | Altijd | In 1 aandoening |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Altijd | In 1 aandoening |
| GCSHglycine cleavage system protein H | Altijd | In 1 aandoening |
| GOLGA2golgin A2 | Altijd | In 1 aandoening |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Altijd | In 2 aandoeningen |
| IER3IP1immediate early response 3 interacting protein 1 | Altijd | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Altijd | In 1 aandoening |
| KLHL20kelch like family member 20 | Altijd | In 1 aandoening |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altijd | In 1 aandoening |
| MED17mediator complex subunit 17 | Altijd | In 1 aandoening |
| MFFmitochondrial fission factor | Altijd | In 2 aandoeningen |
| MSL2MSL complex subunit 2 | Altijd | In 1 aandoening |
| NEUROD2neuronal differentiation 2 | Altijd | In 2 aandoeningen |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Altijd | In 2 aandoeningen |
| PHACTR1phosphatase and actin regulator 1 | Altijd | In 2 aandoeningen |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altijd | In 3 aandoeningen |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Altijd | In 1 aandoening |
| PLCB1phospholipase C beta 1 | Altijd | In 3 aandoeningen |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Altijd | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Altijd | In 1 aandoening |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Altijd | In 1 aandoening |
| TBL1XR1TBL1X/Y related 1 | Altijd | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Altijd | In 2 aandoeningen |
| CDKL5cyclin dependent kinase like 5 | Heel vaak (80–99%) | In 4 aandoeningen |
| CNPY3canopy FGF signaling regulator 3 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 159 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| GUF1GTP binding elongation factor GUF1 | Heel vaak (80–99%) | In 2 aandoeningen |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| SIK1salt inducible kinase 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| SLC35A2solute carrier family 35 member A2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SPOUT1SPOUT domain containing methyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| WDR45WD repeat domain 45 | Heel vaak (80–99%) | In 1 aandoening |
| ZNHIT3zinc finger HIT-type containing 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Vaak (30–79%) | In 1 aandoening |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Vaak (30–79%) | In 1 aandoening |
| ATAD1ATPase family AAA domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Vaak (30–79%) | In 1 aandoening |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Vaak (30–79%) | In 2 aandoeningen |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 1 aandoening |
| CELF2CUGBP Elav-like family member 2 | Vaak (30–79%) | In 2 aandoeningen |
| COX4I1cytochrome c oxidase subunit 4I1 | Vaak (30–79%) | In 1 aandoening |
| CUL3cullin 3 | Vaak (30–79%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| DMXL2Dmx like 2 | Vaak (30–79%) | In 1 aandoening |
| DOCK7dedicator of cytokinesis 7 | Vaak (30–79%) | In 2 aandoeningen |
| EPM2AEPM2A glucan phosphatase, laforin | Vaak (30–79%) | In 1 aandoening |
| EXOC8exocyst complex component 8 | Vaak (30–79%) | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Vaak (30–79%) | In 2 aandoeningen |
| FGF13fibroblast growth factor 13 | Vaak (30–79%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| GNAO1G protein subunit alpha o1 | Vaak (30–79%) | In 2 aandoeningen |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Vaak (30–79%) | In 1 aandoening |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Vaak (30–79%) | In 2 aandoeningen |
| GRM7glutamate metabotropic receptor 7 | Vaak (30–79%) | In 1 aandoening |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Vaak (30–79%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Vaak (30–79%) | In 2 aandoeningen |
| LGI1leucine rich glioma inactivated 1 | Vaak (30–79%) | In 1 aandoening |
| MPDU1mannose-P-dolichol utilization defect 1 | Vaak (30–79%) | In 2 aandoeningen |
| NACC1nucleus accumbens associated 1 | Vaak (30–79%) | In 1 aandoening |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Vaak (30–79%) | In 1 aandoening |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Vaak (30–79%) | In 1 aandoening |
| OTUD7AOTU deubiquitinase 7A | Vaak (30–79%) | In 1 aandoening |
| PCDH12protocadherin 12 | Vaak (30–79%) | In 1 aandoening |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Vaak (30–79%) | In 2 aandoeningen |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Vaak (30–79%) | In 1 aandoening |
| PLAAphospholipase A2 activating protein | Vaak (30–79%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Vaak (30–79%) | In 1 aandoening |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| RUSC2RUN and SH3 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Vaak (30–79%) | In 2 aandoeningen |
| SLC25A22solute carrier family 25 member 22 | Vaak (30–79%) | In 2 aandoeningen |
| SLC32A1solute carrier family 32 member 1 | Vaak (30–79%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Vaak (30–79%) | In 2 aandoeningen |
| TGFB1transforming growth factor beta 1 | Vaak (30–79%) | In 1 aandoening |
| TIMM50translocase of inner mitochondrial membrane 50 | Vaak (30–79%) | In 2 aandoeningen |
| TRA2Btransformer 2 beta homolog | Vaak (30–79%) | In 1 aandoening |
| TRAPPC12trafficking protein particle complex subunit 12 | Vaak (30–79%) | In 2 aandoeningen |
| TUBB2Atubulin beta 2A class IIa | Vaak (30–79%) | In 1 aandoening |
| UNC13Aunc-13 homolog A | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ABCC8ATP binding cassette subfamily C member 8 | Soms (5–29%) | In 1 aandoening |
| ACTL6Bactin like 6B | Soms (5–29%) | In 1 aandoening |
| AFG2AAAA ATPase AFG2A | Soms (5–29%) | In 1 aandoening |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Soms (5–29%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Soms (5–29%) | In 2 aandoeningen |
| APC2APC regulator of Wnt signaling pathway 2 | Soms (5–29%) | In 1 aandoening |
| ASPAaspartoacylase | Soms (5–29%) | In 1 aandoening |
| ATN1atrophin 1 | Soms (5–29%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Soms (5–29%) | In 1 aandoening |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Soms (5–29%) | In 1 aandoening |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Soms (5–29%) | In 1 aandoening |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CAPRIN1cell cycle associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Soms (5–29%) | In 2 aandoeningen |
| CLTCclathrin heavy chain | Soms (5–29%) | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Soms (5–29%) | In 1 aandoening |
| CTNNA2catenin alpha 2 | Soms (5–29%) | In 1 aandoening |
| CUX2cut like homeobox 2 | Soms (5–29%) | In 1 aandoening |
| DALRD3DALR anticodon binding domain containing 3 | Soms (5–29%) | In 1 aandoening |
| DCXdoublecortin | Soms (5–29%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Soms (5–29%) | In 2 aandoeningen |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| DOLKdolichol kinase | Soms (5–29%) | In 2 aandoeningen |
| FBXO28F-box protein 28 | Soms (5–29%) | In 1 aandoening |
| FHfumarate hydratase | Soms (5–29%) | In 1 aandoening |
| FOXG1forkhead box G1 | Soms (5–29%) | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Soms (5–29%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Soms (5–29%) | In 1 aandoening |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Soms (5–29%) | In 1 aandoening |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Soms (5–29%) | In 1 aandoening |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Soms (5–29%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Soms (5–29%) | In 1 aandoening |
| GAD1glutamate decarboxylase 1 | Soms (5–29%) | In 1 aandoening |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Soms (5–29%) | In 2 aandoeningen |
| GNB1G protein subunit beta 1 | Soms (5–29%) | In 1 aandoening |
| GNB5G protein subunit beta 5 | Soms (5–29%) | In 1 aandoening |
| HCFC1host cell factor C1 | Soms (5–29%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Soms (5–29%) | In 1 aandoening |
| HID1HID1 domain containing | Soms (5–29%) | In 1 aandoening |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Soms (5–29%) | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 2 aandoeningen |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Soms (5–29%) | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Soms (5–29%) | In 2 aandoeningen |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Soms (5–29%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Soms (5–29%) | In 2 aandoeningen |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Soms (5–29%) | In 2 aandoeningen |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Soms (5–29%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Soms (5–29%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Soms (5–29%) | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Soms (5–29%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| NAXDNAD(P)HX dehydratase | Soms (5–29%) | In 1 aandoening |
| NECAP1NECAP endocytosis associated 1 | Soms (5–29%) | In 1 aandoening |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| NEXMIFneurite extension and migration factor | Soms (5–29%) | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Soms (5–29%) | In 1 aandoening |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Soms (5–29%) | In 1 aandoening |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Soms (5–29%) | In 1 aandoening |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Soms (5–29%) | In 1 aandoening |
| PLPBPpyridoxal phosphate binding protein | Soms (5–29%) | In 1 aandoening |
| PPFIBP1PPFIB scaffold protein 1 | Soms (5–29%) | In 1 aandoening |
| PTS6-pyruvoyltetrahydropterin synthase | Soms (5–29%) | In 1 aandoening |
| SATB1SATB homeobox 1 | Soms (5–29%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Soms (5–29%) | In 3 aandoeningen |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Soms (5–29%) | In 1 aandoening |
| SLC12A5solute carrier family 12 member 5 | Soms (5–29%) | In 1 aandoening |
| SLC13A5solute carrier family 13 member 5 | Soms (5–29%) | In 1 aandoening |
| SLC1A4solute carrier family 1 member 4 | Soms (5–29%) | In 1 aandoening |
| SLC38A3solute carrier family 38 member 3 | Soms (5–29%) | In 1 aandoening |
| SLC39A8solute carrier family 39 member 8 | Soms (5–29%) | In 1 aandoening |
| STXBP1syntaxin binding protein 1 | Soms (5–29%) | In 2 aandoeningen |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Soms (5–29%) | In 1 aandoening |
| SZT2SZT2 subunit of KICSTOR complex | Soms (5–29%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Soms (5–29%) | In 1 aandoening |
| TRAK1trafficking kinesin protein 1 | Soms (5–29%) | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Soms (5–29%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Soms (5–29%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Soms (5–29%) | In 1 aandoening |
| UPB1beta-ureidopropionase 1 | Soms (5–29%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Soms (5–29%) | In 1 aandoening |
| ZNF526zinc finger protein 526 | Soms (5–29%) | In 1 aandoening |
| NPRL2NPR2 like, GATOR1 complex subunit | Zelden (1–4%) | In 1 aandoening |
| NPRL3NPR3 like, GATOR1 complex subunit | Zelden (1–4%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Zelden (1–4%) | In 2 aandoeningen |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Niet vastgelegd | In 1 aandoening |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Niet vastgelegd | In 1 aandoening |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Niet vastgelegd | In 1 aandoening |
| GLYCTKglycerate kinase | Niet vastgelegd | In 1 aandoening |
| MDH1malate dehydrogenase 1 | Niet vastgelegd | In 1 aandoening |
| NF1neurofibromin 1 | Niet vastgelegd | In 1 aandoening |
| PHGDHphosphoglycerate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| ROGDIrogdi atypical leucine zipper | Niet vastgelegd | In 1 aandoening |
| UGDHUDP-glucose 6-dehydrogenase | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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