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Cecha
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).
Podsumowanie
- Znana także jako
- Hypsarrhythmia by EEG
- Układ organizmu
- Abnormality of the nervous system
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/hypsarrhythmia.json"
page <- fromJSON(url)
page$trait$nameHypsarrhythmiaHP:0002521
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Odczytaj geny powiązane z Hypsarrhythmia oraz resztę swojego genomu za pomocą jednego badania.
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Zamawiam Genome Test199 genów powiązanych z Hypsarrhythmia
Zmiany w tych genach powodują rzadkie choroby, w których występuje Hypsarrhythmia. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Zawsze | W 2 chorobach |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Zawsze | W 2 chorobach |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Zawsze | W 1 chorobie |
| ARV1ARV1 fatty acid homeostasis modulator | Zawsze | W 1 chorobie |
| ARXaristaless related homeobox | Zawsze | W 3 chorobach |
| ATP6V1AATPase H+ transporting V1 subunit A | Zawsze | W 3 chorobach |
| ATP7AATPase copper transporting alpha | Zawsze | W 1 chorobie |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Zawsze | W 1 chorobie |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Zawsze | W 1 chorobie |
| DNM1dynamin 1 | Zawsze | W 3 chorobach |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Zawsze | W 2 chorobach |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Zawsze | W 2 chorobach |
| EPG5ectopic P-granules 5 autophagy tethering factor | Zawsze | W 1 chorobie |
| ERMARDER membrane associated RNA degradation | Zawsze | W 2 chorobach |
| ESAMendothelial cell adhesion molecule | Zawsze | W 1 chorobie |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Zawsze | W 1 chorobie |
| GCSHglycine cleavage system protein H | Zawsze | W 1 chorobie |
| GOLGA2golgin A2 | Zawsze | W 1 chorobie |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Zawsze | W 2 chorobach |
| IER3IP1immediate early response 3 interacting protein 1 | Zawsze | W 1 chorobie |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Zawsze | W 1 chorobie |
| KLHL20kelch like family member 20 | Zawsze | W 1 chorobie |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Zawsze | W 1 chorobie |
| MED17mediator complex subunit 17 | Zawsze | W 1 chorobie |
| MFFmitochondrial fission factor | Zawsze | W 2 chorobach |
| MSL2MSL complex subunit 2 | Zawsze | W 1 chorobie |
| NEUROD2neuronal differentiation 2 | Zawsze | W 2 chorobach |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Zawsze | W 2 chorobach |
| PHACTR1phosphatase and actin regulator 1 | Zawsze | W 2 chorobach |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 3 chorobach |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Zawsze | W 1 chorobie |
| PLCB1phospholipase C beta 1 | Zawsze | W 3 chorobach |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Zawsze | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Zawsze | W 1 chorobie |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Zawsze | W 1 chorobie |
| TBL1XR1TBL1X/Y related 1 | Zawsze | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Zawsze | W 2 chorobach |
| CDKL5cyclin dependent kinase like 5 | Bardzo często (80–99%) | W 4 chorobach |
| CNPY3canopy FGF signaling regulator 3 | Bardzo często (80–99%) | W 1 chorobie |
Pokaż jeszcze 159 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| GUF1GTP binding elongation factor GUF1 | Bardzo często (80–99%) | W 2 chorobach |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Bardzo często (80–99%) | W 3 chorobach |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Bardzo często (80–99%) | W 3 chorobach |
| SIK1salt inducible kinase 1 | Bardzo często (80–99%) | W 3 chorobach |
| SLC35A2solute carrier family 35 member A2 | Bardzo często (80–99%) | W 2 chorobach |
| SPOUT1SPOUT domain containing methyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Bardzo często (80–99%) | W 2 chorobach |
| WDR45WD repeat domain 45 | Bardzo często (80–99%) | W 1 chorobie |
| ZNHIT3zinc finger HIT-type containing 3 | Bardzo często (80–99%) | W 2 chorobach |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Często (30–79%) | W 1 chorobie |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Często (30–79%) | W 1 chorobie |
| ATAD1ATPase family AAA domain containing 1 | Często (30–79%) | W 1 chorobie |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Często (30–79%) | W 1 chorobie |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Często (30–79%) | W 2 chorobach |
| CASKcalcium/calmodulin dependent serine protein kinase | Często (30–79%) | W 1 chorobie |
| CELF2CUGBP Elav-like family member 2 | Często (30–79%) | W 2 chorobach |
| COX4I1cytochrome c oxidase subunit 4I1 | Często (30–79%) | W 1 chorobie |
| CUL3cullin 3 | Często (30–79%) | W 1 chorobie |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Często (30–79%) | W 2 chorobach |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Często (30–79%) | W 1 chorobie |
| DMXL2Dmx like 2 | Często (30–79%) | W 1 chorobie |
| DOCK7dedicator of cytokinesis 7 | Często (30–79%) | W 2 chorobach |
| EPM2AEPM2A glucan phosphatase, laforin | Często (30–79%) | W 1 chorobie |
| EXOC8exocyst complex component 8 | Często (30–79%) | W 1 chorobie |
| FGF12fibroblast growth factor 12 | Często (30–79%) | W 2 chorobach |
| FGF13fibroblast growth factor 13 | Często (30–79%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Często (30–79%) | W 2 chorobach |
| GNAO1G protein subunit alpha o1 | Często (30–79%) | W 2 chorobach |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Często (30–79%) | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Często (30–79%) | W 2 chorobach |
| GRM7glutamate metabotropic receptor 7 | Często (30–79%) | W 1 chorobie |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Często (30–79%) | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Często (30–79%) | W 1 chorobie |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Często (30–79%) | W 2 chorobach |
| LGI1leucine rich glioma inactivated 1 | Często (30–79%) | W 1 chorobie |
| MPDU1mannose-P-dolichol utilization defect 1 | Często (30–79%) | W 2 chorobach |
| NACC1nucleus accumbens associated 1 | Często (30–79%) | W 1 chorobie |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Często (30–79%) | W 1 chorobie |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 1 chorobie |
| OTUD7AOTU deubiquitinase 7A | Często (30–79%) | W 1 chorobie |
| PCDH12protocadherin 12 | Często (30–79%) | W 1 chorobie |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Często (30–79%) | W 2 chorobach |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Często (30–79%) | W 1 chorobie |
| PLAAphospholipase A2 activating protein | Często (30–79%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Często (30–79%) | W 1 chorobie |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Często (30–79%) | W 2 chorobach |
| RHOBTB2Rho related BTB domain containing 2 | Często (30–79%) | W 1 chorobie |
| RUSC2RUN and SH3 domain containing 2 | Często (30–79%) | W 1 chorobie |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Często (30–79%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Często (30–79%) | W 2 chorobach |
| SLC25A22solute carrier family 25 member 22 | Często (30–79%) | W 2 chorobach |
| SLC32A1solute carrier family 32 member 1 | Często (30–79%) | W 1 chorobie |
| SYNJ1synaptojanin 1 | Często (30–79%) | W 2 chorobach |
| TGFB1transforming growth factor beta 1 | Często (30–79%) | W 1 chorobie |
| TIMM50translocase of inner mitochondrial membrane 50 | Często (30–79%) | W 2 chorobach |
| TRA2Btransformer 2 beta homolog | Często (30–79%) | W 1 chorobie |
| TRAPPC12trafficking protein particle complex subunit 12 | Często (30–79%) | W 2 chorobach |
| TUBB2Atubulin beta 2A class IIa | Często (30–79%) | W 1 chorobie |
| UNC13Aunc-13 homolog A | Często (30–79%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| ABCC8ATP binding cassette subfamily C member 8 | Czasami (5–29%) | W 1 chorobie |
| ACTL6Bactin like 6B | Czasami (5–29%) | W 1 chorobie |
| AFG2AAAA ATPase AFG2A | Czasami (5–29%) | W 1 chorobie |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Czasami (5–29%) | W 1 chorobie |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Czasami (5–29%) | W 2 chorobach |
| APC2APC regulator of Wnt signaling pathway 2 | Czasami (5–29%) | W 1 chorobie |
| ASPAaspartoacylase | Czasami (5–29%) | W 1 chorobie |
| ATN1atrophin 1 | Czasami (5–29%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Czasami (5–29%) | W 1 chorobie |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Czasami (5–29%) | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Czasami (5–29%) | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Czasami (5–29%) | W 1 chorobie |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| CAPRIN1cell cycle associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| CDK19cyclin dependent kinase 19 | Czasami (5–29%) | W 2 chorobach |
| CLTCclathrin heavy chain | Czasami (5–29%) | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Czasami (5–29%) | W 1 chorobie |
| CTNNA2catenin alpha 2 | Czasami (5–29%) | W 1 chorobie |
| CUX2cut like homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| DALRD3DALR anticodon binding domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| DCXdoublecortin | Czasami (5–29%) | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Czasami (5–29%) | W 2 chorobach |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| DOLKdolichol kinase | Czasami (5–29%) | W 2 chorobach |
| FBXO28F-box protein 28 | Czasami (5–29%) | W 1 chorobie |
| FHfumarate hydratase | Czasami (5–29%) | W 1 chorobie |
| FOXG1forkhead box G1 | Czasami (5–29%) | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Czasami (5–29%) | W 1 chorobie |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Czasami (5–29%) | W 1 chorobie |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Czasami (5–29%) | W 1 chorobie |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Czasami (5–29%) | W 1 chorobie |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Czasami (5–29%) | W 1 chorobie |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Czasami (5–29%) | W 1 chorobie |
| GAD1glutamate decarboxylase 1 | Czasami (5–29%) | W 1 chorobie |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Czasami (5–29%) | W 2 chorobach |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 1 chorobie |
| GNB5G protein subunit beta 5 | Czasami (5–29%) | W 1 chorobie |
| HCFC1host cell factor C1 | Czasami (5–29%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Czasami (5–29%) | W 1 chorobie |
| HID1HID1 domain containing | Czasami (5–29%) | W 1 chorobie |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Czasami (5–29%) | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 2 chorobach |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Czasami (5–29%) | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Czasami (5–29%) | W 2 chorobach |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Czasami (5–29%) | W 1 chorobie |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Czasami (5–29%) | W 2 chorobach |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Czasami (5–29%) | W 2 chorobach |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Czasami (5–29%) | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Czasami (5–29%) | W 1 chorobie |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Czasami (5–29%) | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Czasami (5–29%) | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| NAXDNAD(P)HX dehydratase | Czasami (5–29%) | W 1 chorobie |
| NECAP1NECAP endocytosis associated 1 | Czasami (5–29%) | W 1 chorobie |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Czasami (5–29%) | W 1 chorobie |
| NEXMIFneurite extension and migration factor | Czasami (5–29%) | W 1 chorobie |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Czasami (5–29%) | W 1 chorobie |
| PACS2phosphofurin acidic cluster sorting protein 2 | Czasami (5–29%) | W 1 chorobie |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Czasami (5–29%) | W 1 chorobie |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Czasami (5–29%) | W 1 chorobie |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Czasami (5–29%) | W 1 chorobie |
| PLPBPpyridoxal phosphate binding protein | Czasami (5–29%) | W 1 chorobie |
| PPFIBP1PPFIB scaffold protein 1 | Czasami (5–29%) | W 1 chorobie |
| PTS6-pyruvoyltetrahydropterin synthase | Czasami (5–29%) | W 1 chorobie |
| SATB1SATB homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Czasami (5–29%) | W 2 chorobach |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Czasami (5–29%) | W 3 chorobach |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Czasami (5–29%) | W 1 chorobie |
| SLC12A5solute carrier family 12 member 5 | Czasami (5–29%) | W 1 chorobie |
| SLC13A5solute carrier family 13 member 5 | Czasami (5–29%) | W 1 chorobie |
| SLC1A4solute carrier family 1 member 4 | Czasami (5–29%) | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Czasami (5–29%) | W 1 chorobie |
| SLC39A8solute carrier family 39 member 8 | Czasami (5–29%) | W 1 chorobie |
| STXBP1syntaxin binding protein 1 | Czasami (5–29%) | W 2 chorobach |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Czasami (5–29%) | W 1 chorobie |
| SZT2SZT2 subunit of KICSTOR complex | Czasami (5–29%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Czasami (5–29%) | W 1 chorobie |
| TRAK1trafficking kinesin protein 1 | Czasami (5–29%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Czasami (5–29%) | W 1 chorobie |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Czasami (5–29%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Czasami (5–29%) | W 1 chorobie |
| UPB1beta-ureidopropionase 1 | Czasami (5–29%) | W 1 chorobie |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Czasami (5–29%) | W 1 chorobie |
| ZNF526zinc finger protein 526 | Czasami (5–29%) | W 1 chorobie |
| NPRL2NPR2 like, GATOR1 complex subunit | Rzadko (1–4%) | W 1 chorobie |
| NPRL3NPR3 like, GATOR1 complex subunit | Rzadko (1–4%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Rzadko (1–4%) | W 2 chorobach |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Nie odnotowano | W 1 chorobie |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Nie odnotowano | W 1 chorobie |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Nie odnotowano | W 1 chorobie |
| GLYCTKglycerate kinase | Nie odnotowano | W 1 chorobie |
| MDH1malate dehydrogenase 1 | Nie odnotowano | W 1 chorobie |
| NF1neurofibromin 1 | Nie odnotowano | W 1 chorobie |
| PHGDHphosphoglycerate dehydrogenase | Nie odnotowano | W 1 chorobie |
| ROGDIrogdi atypical leucine zipper | Nie odnotowano | W 1 chorobie |
| UGDHUDP-glucose 6-dehydrogenase | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni