Tunnus
Infantile spasms
Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Infantile spasms, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test178 geeni on seotud tunnusega Infantile spasms
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Infantile spasms. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alati | Esineb 2 haiguses |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Alati | Esineb 1 haiguses |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Alati | Esineb 2 haiguses |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Alati | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 1 haiguses |
| ARXaristaless related homeobox | Alati | Esineb 4 haiguses |
| ATP6V0CATPase H+ transporting V0 subunit c | Alati | Esineb 1 haiguses |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alati | Esineb 1 haiguses |
| DOT1LDOT1 like histone lysine methyltransferase | Alati | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Alati | Esineb 1 haiguses |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alati | Esineb 1 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Alati | Esineb 1 haiguses |
| ERMARDER membrane associated RNA degradation | Alati | Esineb 1 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Alati | Esineb 2 haiguses |
| GCSHglycine cleavage system protein H | Alati | Esineb 1 haiguses |
| GOLGA2golgin A2 | Alati | Esineb 1 haiguses |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Alati | Esineb 2 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| KLHL20kelch like family member 20 | Alati | Esineb 1 haiguses |
| NEUROD2neuronal differentiation 2 | Alati | Esineb 2 haiguses |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Alati | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Alati | Esineb 1 haiguses |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Alati | Esineb 1 haiguses |
| SLC25A10solute carrier family 25 member 10 | Alati | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Alati | Esineb 2 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| TMEM63Btransmembrane protein 63B | Alati | Esineb 1 haiguses |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alati | Esineb 1 haiguses |
| VPS53VPS53 subunit of GARP complex | Alati | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Väga sageli (80–99%) | Esineb 5 haiguses |
| CNPY3canopy FGF signaling regulator 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DMXL2Dmx like 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GUF1GTP binding elongation factor GUF1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PHACTR1phosphatase and actin regulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Väga sageli (80–99%) | Esineb 2 haiguses |
| PLCB1phospholipase C beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SIK1salt inducible kinase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 138 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SPTAN1spectrin alpha, non-erythrocytic 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| STRADASTE20 related adaptor alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR45WD repeat domain 45 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| CDK19cyclin dependent kinase 19 | Sageli (30–79%) | Esineb 1 haiguses |
| CUL3cullin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| DCXdoublecortin | Sageli (30–79%) | Esineb 1 haiguses |
| DNM1dynamin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DOCK7dedicator of cytokinesis 7 | Sageli (30–79%) | Esineb 2 haiguses |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FBLN1fibulin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FBXO28F-box protein 28 | Sageli (30–79%) | Esineb 1 haiguses |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Sageli (30–79%) | Esineb 1 haiguses |
| GNAQG protein subunit alpha q | Sageli (30–79%) | Esineb 1 haiguses |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Sageli (30–79%) | Esineb 1 haiguses |
| IFNGinterferon gamma | Sageli (30–79%) | Esineb 2 haiguses |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NACC1nucleus accumbens associated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Sageli (30–79%) | Esineb 1 haiguses |
| OTUD7AOTU deubiquitinase 7A | Sageli (30–79%) | Esineb 1 haiguses |
| PCDH12protocadherin 12 | Sageli (30–79%) | Esineb 1 haiguses |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RUSC2RUN and SH3 domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Sageli (30–79%) | Esineb 1 haiguses |
| SLC35A2solute carrier family 35 member A2 | Sageli (30–79%) | Esineb 1 haiguses |
| STAMBPSTAM binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| TRA2Btransformer 2 beta homolog | Sageli (30–79%) | Esineb 1 haiguses |
| TSC1TSC complex subunit 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TSC2TSC complex subunit 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TSEN15tRNA splicing endonuclease subunit 15 | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN2tRNA splicing endonuclease subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN34tRNA splicing endonuclease subunit 34 | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN54tRNA splicing endonuclease subunit 54 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB2Atubulin beta 2A class IIa | Sageli (30–79%) | Esineb 1 haiguses |
| TUBG1tubulin gamma 1 | Sageli (30–79%) | Esineb 1 haiguses |
| UBA5ubiquitin like modifier activating enzyme 5 | Sageli (30–79%) | Esineb 1 haiguses |
| UFSP2UFM1 specific peptidase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Sageli (30–79%) | Esineb 1 haiguses |
| ACTL6Bactin like 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADGRG1adhesion G protein-coupled receptor G1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AFG2AAAA ATPase AFG2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| AFG2BAAA ATPase AFG2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BTDbiotinidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAPRIN1cell cycle associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC40cell division cycle 40 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDH2cadherin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP85Lcentrosomal protein 85L | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN4Cl-/H+ antiporter 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNTNAP2contactin associated protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTNNA2catenin alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| DHX16DEAH-box helicase 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHX37DEAH-box helicase 37 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOLKdolichol kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FDXRferredoxin reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FHfumarate hydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GCDHglutaryl-CoA dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLULglutamate-ammonia ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNAO1G protein subunit alpha o1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GNB1G protein subunit beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GRM7glutamate metabotropic receptor 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCFC1host cell factor C1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HDAC4histone deacetylase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HK1hexokinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM4Blysine demethylase 4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| MACF1microtubule actin crosslinking factor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAXDNAD(P)HX dehydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPRL2NPR2 like, GATOR1 complex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPRL3NPR3 like, GATOR1 complex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NTNG1netrin G1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Mõnikord (5–29%) | Esineb 1 haiguses |
| PNKPpolynucleotide kinase 3'-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1ARNA polymerase I subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPIL1peptidylprolyl isomerase like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRRT2proline rich transmembrane protein 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF13ring finger protein 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC19A3solute carrier family 19 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC1A4solute carrier family 1 member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A22solute carrier family 25 member 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC32A1solute carrier family 32 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRPX2sushi repeat containing protein X-linked 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| TANGO2transport and golgi organization 2 homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIM8tripartite motif containing 8 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBA1Atubulin alpha 1a | Mõnikord (5–29%) | Esineb 2 haiguses |
| TUBA8tubulin alpha 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBB2Btubulin beta 2B class IIb | Mõnikord (5–29%) | Esineb 2 haiguses |
| TUBB3tubulin beta 3 class III | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFHX3zinc finger homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACBD6acyl-CoA binding domain containing 6 | Harva (1–4%) | Esineb 1 haiguses |
| ASAH1N-acylsphingosine amidohydrolase 1 | Harva (1–4%) | Esineb 1 haiguses |
| CHD3chromodomain helicase DNA binding protein 3 | Harva (1–4%) | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Harva (1–4%) | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast