Piirre
Apnea
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Yhteenveto
- Tunnetaan myös nimellä
- Absence of spontaneous respiration, Apneic episodes, Apnoea
- Elimistön järjestelmä
- Abnormality of the respiratory system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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Tilaa Genome Test203 geeniä, jotka liittyvät piirteeseen Apnea
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Apnea esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Aina | 1 sairaudessa |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Aina | 1 sairaudessa |
| ATP5F1AATP synthase F1 subunit alpha | Aina | 1 sairaudessa |
| CAPNS1calpain small subunit 1 | Aina | 1 sairaudessa |
| CTSDcathepsin D | Aina | 1 sairaudessa |
| DAGLAdiacylglycerol lipase alpha | Aina | 1 sairaudessa |
| DSTdystonin | Aina | 3 sairaudessa |
| ECHS1enoyl-CoA hydratase, short chain 1 | Aina | 1 sairaudessa |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Aina | 1 sairaudessa |
| FDXRferredoxin reductase | Aina | 1 sairaudessa |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Aina | 1 sairaudessa |
| GCSHglycine cleavage system protein H | Aina | 1 sairaudessa |
| GLULglutamate-ammonia ligase | Aina | 1 sairaudessa |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Aina | 1 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| KIF5Akinesin family member 5A | Aina | 1 sairaudessa |
| LBX1ladybird homeobox 1 | Aina | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Aina | 4 sairaudessa |
| MSL2MSL complex subunit 2 | Aina | 1 sairaudessa |
| MYO1Hmyosin IH | Aina | 1 sairaudessa |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Aina | 1 sairaudessa |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Aina | 1 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Aina | 1 sairaudessa |
| NUP214nucleoporin 214 | Aina | 1 sairaudessa |
| OPA1OPA1 mitochondrial dynamin like GTPase | Aina | 1 sairaudessa |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Aina | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Aina | 1 sairaudessa |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Aina | 1 sairaudessa |
| SATB2SATB homeobox 2 | Aina | 1 sairaudessa |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Aina | 3 sairaudessa |
| SCO1synthesis of cytochrome C oxidase 1 | Aina | 1 sairaudessa |
| SLC25A12solute carrier family 25 member 12 | Aina | 1 sairaudessa |
| SPINK5serine peptidase inhibitor Kazal type 5 | Aina | 1 sairaudessa |
| SPOUT1SPOUT domain containing methyltransferase 1 | Aina | 1 sairaudessa |
| STAT2signal transducer and activator of transcription 2 | Aina | 1 sairaudessa |
| AHI1Abelson helper integration site 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ARL13BARF like GTPase 13B | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL3ARF like GTPase 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| ARMC9armadillo repeat containing 9 | Hyvin usein (80–99%) | 2 sairaudessa |
| B9D1B9 domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
Näytä 163 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| B9D2B9 domain containing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| BRAT1BRCA1 associated ATM activator 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CBY1chibby 1, beta catenin antagonist | Hyvin usein (80–99%) | 1 sairaudessa |
| CC2D2Acoiled-coil and C2 domain containing 2A | Hyvin usein (80–99%) | 3 sairaudessa |
| CEP104centrosomal protein 104 | Hyvin usein (80–99%) | 1 sairaudessa |
| CEP120centrosomal protein 120 | Hyvin usein (80–99%) | 2 sairaudessa |
| CEP290centrosomal protein 290 | Hyvin usein (80–99%) | 1 sairaudessa |
| CEP41centrosomal protein 41 | Hyvin usein (80–99%) | 2 sairaudessa |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CSPP1centrosome and spindle pole associated protein 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT74intraflagellar transport 74 | Hyvin usein (80–99%) | 1 sairaudessa |
| INPP5Einositol polyphosphate-5-phosphatase E | Hyvin usein (80–99%) | 3 sairaudessa |
| KATNIPkatanin interacting protein | Hyvin usein (80–99%) | 1 sairaudessa |
| KIAA0586KIAA0586 | Hyvin usein (80–99%) | 3 sairaudessa |
| KIAA0753KIAA0753 | Hyvin usein (80–99%) | 2 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| NPHP1nephrocystin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Hyvin usein (80–99%) | 2 sairaudessa |
| PDE6Dphosphodiesterase 6D | Hyvin usein (80–99%) | 2 sairaudessa |
| PIBF1progesterone immunomodulatory binding factor 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| RPGRIP1LRPGRIP1 like | Hyvin usein (80–99%) | 2 sairaudessa |
| SLC5A7solute carrier family 5 member 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| SUFUSUFU negative regulator of hedgehog signaling | Hyvin usein (80–99%) | 1 sairaudessa |
| TCTN1tectonic family member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TCTN2tectonic family member 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| TCTN3tectonic family member 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| TMEM138transmembrane protein 138 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM216transmembrane protein 216 | Hyvin usein (80–99%) | 2 sairaudessa |
| TMEM218transmembrane protein 218 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM231transmembrane protein 231 | Hyvin usein (80–99%) | 2 sairaudessa |
| TMEM237transmembrane protein 237 | Hyvin usein (80–99%) | 3 sairaudessa |
| TMEM67transmembrane protein 67 | Hyvin usein (80–99%) | 2 sairaudessa |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ZNF423zinc finger protein 423 | Hyvin usein (80–99%) | 1 sairaudessa |
| ASXL1ASXL transcriptional regulator 1 | Usein (30–79%) | 1 sairaudessa |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Usein (30–79%) | 1 sairaudessa |
| COQ4coenzyme Q4 | Usein (30–79%) | 1 sairaudessa |
| DDCdopa decarboxylase | Usein (30–79%) | 1 sairaudessa |
| DHRSXdehydrogenase/reductase X-linked | Usein (30–79%) | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Usein (30–79%) | 1 sairaudessa |
| GBA1glucosylceramidase beta 1 | Usein (30–79%) | 2 sairaudessa |
| HDAC4histone deacetylase 4 | Usein (30–79%) | 1 sairaudessa |
| HDAC9histone deacetylase 9 | Usein (30–79%) | 1 sairaudessa |
| HSPD1heat shock protein family D (Hsp60) member 1 | Usein (30–79%) | 1 sairaudessa |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Usein (30–79%) | 4 sairaudessa |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Usein (30–79%) | 2 sairaudessa |
| LIFRLIF receptor subunit alpha | Usein (30–79%) | 2 sairaudessa |
| MRPL39mitochondrial ribosomal protein L39 | Usein (30–79%) | 1 sairaudessa |
| MYL1myosin light chain 1 | Usein (30–79%) | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Usein (30–79%) | 1 sairaudessa |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Usein (30–79%) | 1 sairaudessa |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Usein (30–79%) | 1 sairaudessa |
| PLAAphospholipase A2 activating protein | Usein (30–79%) | 2 sairaudessa |
| PRRT2proline rich transmembrane protein 2 | Usein (30–79%) | 1 sairaudessa |
| PSAT1phosphoserine aminotransferase 1 | Usein (30–79%) | 1 sairaudessa |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Usein (30–79%) | 4 sairaudessa |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Usein (30–79%) | 1 sairaudessa |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Usein (30–79%) | 1 sairaudessa |
| SFTPBsurfactant protein B | Usein (30–79%) | 1 sairaudessa |
| SLC18A3solute carrier family 18 member A3 | Usein (30–79%) | 1 sairaudessa |
| SOX9SRY-box transcription factor 9 | Usein (30–79%) | 1 sairaudessa |
| TSEN15tRNA splicing endonuclease subunit 15 | Usein (30–79%) | 1 sairaudessa |
| TSEN2tRNA splicing endonuclease subunit 2 | Usein (30–79%) | 1 sairaudessa |
| TSEN34tRNA splicing endonuclease subunit 34 | Usein (30–79%) | 1 sairaudessa |
| TSEN54tRNA splicing endonuclease subunit 54 | Usein (30–79%) | 1 sairaudessa |
| ACY1aminoacylase 1 | Joskus (5–29%) | 1 sairaudessa |
| ADGRG1adhesion G protein-coupled receptor G1 | Joskus (5–29%) | 1 sairaudessa |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Joskus (5–29%) | 1 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Joskus (5–29%) | 1 sairaudessa |
| BTDbiotinidase | Joskus (5–29%) | 2 sairaudessa |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Joskus (5–29%) | 1 sairaudessa |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Joskus (5–29%) | 1 sairaudessa |
| BUB3BUB3 mitotic checkpoint protein | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Joskus (5–29%) | 1 sairaudessa |
| CDKL5cyclin dependent kinase like 5 | Joskus (5–29%) | 1 sairaudessa |
| CEP57centrosomal protein 57 | Joskus (5–29%) | 1 sairaudessa |
| CLCN7Cl-/H+ antiporter 7 | Joskus (5–29%) | 1 sairaudessa |
| CRLS1cardiolipin synthase 1 | Joskus (5–29%) | 1 sairaudessa |
| CRYABcrystallin alpha B | Joskus (5–29%) | 1 sairaudessa |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| FAM149B1family with sequence similarity 149 member B1 | Joskus (5–29%) | 1 sairaudessa |
| FBN1fibrillin 1 | Joskus (5–29%) | 1 sairaudessa |
| FBXO22F-box protein 22 | Joskus (5–29%) | 1 sairaudessa |
| GNB2G protein subunit beta 2 | Joskus (5–29%) | 1 sairaudessa |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Joskus (5–29%) | 1 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Joskus (5–29%) | 1 sairaudessa |
| KAT6Blysine acetyltransferase 6B | Joskus (5–29%) | 1 sairaudessa |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Joskus (5–29%) | 1 sairaudessa |
| KIF7kinesin family member 7 | Joskus (5–29%) | 1 sairaudessa |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Joskus (5–29%) | 1 sairaudessa |
| MOGSmannosyl-oligosaccharide glucosidase | Joskus (5–29%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Joskus (5–29%) | 1 sairaudessa |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Joskus (5–29%) | 1 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Joskus (5–29%) | 1 sairaudessa |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Joskus (5–29%) | 1 sairaudessa |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Joskus (5–29%) | 1 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Joskus (5–29%) | 1 sairaudessa |
| MTHFRmethylenetetrahydrofolate reductase | Joskus (5–29%) | 1 sairaudessa |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Joskus (5–29%) | 1 sairaudessa |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Joskus (5–29%) | 1 sairaudessa |
| NEK1NIMA related kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Joskus (5–29%) | 1 sairaudessa |
| PI4KAphosphatidylinositol 4-kinase alpha | Joskus (5–29%) | 1 sairaudessa |
| PLPBPpyridoxal phosphate binding protein | Joskus (5–29%) | 1 sairaudessa |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Joskus (5–29%) | 1 sairaudessa |
| PURApurine rich element binding protein A | Joskus (5–29%) | 1 sairaudessa |
| RBM10RNA binding motif protein 10 | Joskus (5–29%) | 1 sairaudessa |
| RHOBTB2Rho related BTB domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| RNF125ring finger protein 125 | Joskus (5–29%) | 1 sairaudessa |
| SKISKI proto-oncogene | Joskus (5–29%) | 1 sairaudessa |
| SLC1A3solute carrier family 1 member 3 | Joskus (5–29%) | 1 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Joskus (5–29%) | 1 sairaudessa |
| SLC6A5solute carrier family 6 member 5 | Joskus (5–29%) | 1 sairaudessa |
| SNX10sorting nexin 10 | Joskus (5–29%) | 1 sairaudessa |
| SRPX2sushi repeat containing protein X-linked 2 | Joskus (5–29%) | 1 sairaudessa |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Joskus (5–29%) | 1 sairaudessa |
| TNFSF11TNF superfamily member 11 | Joskus (5–29%) | 1 sairaudessa |
| TOE1target of EGR1, exonuclease | Joskus (5–29%) | 1 sairaudessa |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Joskus (5–29%) | 1 sairaudessa |
| TRIP13thyroid hormone receptor interactor 13 | Joskus (5–29%) | 1 sairaudessa |
| ABCA3ATP binding cassette subfamily A member 3 | Ei kirjattu | 1 sairaudessa |
| ALPLalkaline phosphatase, biomineralization associated | Ei kirjattu | 1 sairaudessa |
| AMER1APC membrane recruitment protein 1 | Ei kirjattu | 1 sairaudessa |
| BCHEbutyrylcholinesterase | Ei kirjattu | 1 sairaudessa |
| CPT2carnitine palmitoyltransferase 2 | Ei kirjattu | 1 sairaudessa |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Ei kirjattu | 1 sairaudessa |
| FBP1fructose-bisphosphatase 1 | Ei kirjattu | 1 sairaudessa |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ei kirjattu | 1 sairaudessa |
| GLRA1glycine receptor alpha 1 | Ei kirjattu | 1 sairaudessa |
| GNAI3G protein subunit alpha i3 | Ei kirjattu | 1 sairaudessa |
| GPHNgephyrin | Ei kirjattu | 1 sairaudessa |
| HTRA2HtrA serine peptidase 2 | Ei kirjattu | 1 sairaudessa |
| LIASlipoic acid synthetase | Ei kirjattu | 1 sairaudessa |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Ei kirjattu | 1 sairaudessa |
| MYO9Amyosin IXA | Ei kirjattu | 1 sairaudessa |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Ei kirjattu | 1 sairaudessa |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Ei kirjattu | 1 sairaudessa |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Ei kirjattu | 1 sairaudessa |
| NEBnebulin | Ei kirjattu | 1 sairaudessa |
| NFIXnuclear factor I X | Ei kirjattu | 1 sairaudessa |
| PCCApropionyl-CoA carboxylase subunit alpha | Ei kirjattu | 1 sairaudessa |
| PCCBpropionyl-CoA carboxylase subunit beta | Ei kirjattu | 1 sairaudessa |
| PCK1phosphoenolpyruvate carboxykinase 1 | Ei kirjattu | 1 sairaudessa |
| PEX13peroxisomal biogenesis factor 13 | Ei kirjattu | 1 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Ei kirjattu | 1 sairaudessa |
| PHOX2Bpaired like homeobox 2B | Ei kirjattu | 1 sairaudessa |
| PLCB4phospholipase C beta 4 | Ei kirjattu | 1 sairaudessa |
| PRNPprion protein (Kanno blood group) | Ei kirjattu | 1 sairaudessa |
| PTF1Apancreas associated transcription factor 1a | Ei kirjattu | 1 sairaudessa |
| SLC6A9solute carrier family 6 member 9 | Ei kirjattu | 1 sairaudessa |
| TMEM107transmembrane protein 107 | Ei kirjattu | 1 sairaudessa |
| TSPYL1TSPY like 1 | Ei kirjattu | 1 sairaudessa |
| ZC4H2zinc finger C4H2-type containing | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
Yksi testi. Vastauksia koko elämäksi.
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