Požymis
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.
Santrauka
- Taip pat vadinama
- Absence of spontaneous respiration, Apneic episodes, Apnoea
- Kūno sistema
- Abnormality of the respiratory system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Apnea. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Visada | 1 ligoje |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Visada | 1 ligoje |
| ATP5F1AATP synthase F1 subunit alpha | Visada | 1 ligoje |
| CAPNS1calpain small subunit 1 | Visada | 1 ligoje |
| CTSDcathepsin D | Visada | 1 ligoje |
| DAGLAdiacylglycerol lipase alpha | Visada | 1 ligoje |
| DSTdystonin | Visada | 3 ligose |
| ECHS1enoyl-CoA hydratase, short chain 1 | Visada | 1 ligoje |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Visada | 1 ligoje |
| GCSHglycine cleavage system protein H | Visada | 1 ligoje |
| GLULglutamate-ammonia ligase | Visada | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KIF5Akinesin family member 5A | Visada | 1 ligoje |
| LBX1ladybird homeobox 1 | Visada | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Visada | 4 ligose |
| MSL2MSL complex subunit 2 | Visada | 1 ligoje |
| MYO1Hmyosin IH | Visada | 1 ligoje |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Visada | 1 ligoje |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Visada | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 1 ligoje |
| NUP214nucleoporin 214 | Visada | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Visada | 1 ligoje |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| SATB2SATB homeobox 2 | Visada | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 3 ligose |
| SCO1synthesis of cytochrome C oxidase 1 | Visada | 1 ligoje |
| SLC25A12solute carrier family 25 member 12 | Visada | 1 ligoje |
| SPINK5serine peptidase inhibitor Kazal type 5 | Visada | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| STAT2signal transducer and activator of transcription 2 | Visada | 1 ligoje |
| AHI1Abelson helper integration site 1 | Labai dažnai (80–99%) | 2 ligose |
| ARL13BARF like GTPase 13B | Labai dažnai (80–99%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Labai dažnai (80–99%) | 1 ligoje |
| ARMC9armadillo repeat containing 9 | Labai dažnai (80–99%) | 2 ligose |
| B9D1B9 domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 163 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| B9D2B9 domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| BRAT1BRCA1 associated ATM activator 1 | Labai dažnai (80–99%) | 2 ligose |
| CBY1chibby 1, beta catenin antagonist | Labai dažnai (80–99%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Labai dažnai (80–99%) | 3 ligose |
| CEP104centrosomal protein 104 | Labai dažnai (80–99%) | 1 ligoje |
| CEP120centrosomal protein 120 | Labai dažnai (80–99%) | 2 ligose |
| CEP290centrosomal protein 290 | Labai dažnai (80–99%) | 1 ligoje |
| CEP41centrosomal protein 41 | Labai dažnai (80–99%) | 2 ligose |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| CSPP1centrosome and spindle pole associated protein 1 | Labai dažnai (80–99%) | 3 ligose |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Labai dažnai (80–99%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Labai dažnai (80–99%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Labai dažnai (80–99%) | 3 ligose |
| KATNIPkatanin interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| KIAA0586KIAA0586 | Labai dažnai (80–99%) | 3 ligose |
| KIAA0753KIAA0753 | Labai dažnai (80–99%) | 2 ligose |
| MKS1MKS transition zone complex subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| NPHP1nephrocystin 1 | Labai dažnai (80–99%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Labai dažnai (80–99%) | 2 ligose |
| PDE6Dphosphodiesterase 6D | Labai dažnai (80–99%) | 2 ligose |
| PIBF1progesterone immunomodulatory binding factor 1 | Labai dažnai (80–99%) | 2 ligose |
| RPGRIP1LRPGRIP1 like | Labai dažnai (80–99%) | 2 ligose |
| SLC5A7solute carrier family 5 member 7 | Labai dažnai (80–99%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Labai dažnai (80–99%) | 1 ligoje |
| TCTN1tectonic family member 1 | Labai dažnai (80–99%) | 1 ligoje |
| TCTN2tectonic family member 2 | Labai dažnai (80–99%) | 1 ligoje |
| TCTN3tectonic family member 3 | Labai dažnai (80–99%) | 2 ligose |
| TMEM138transmembrane protein 138 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Labai dažnai (80–99%) | 2 ligose |
| TMEM218transmembrane protein 218 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Labai dažnai (80–99%) | 2 ligose |
| TMEM237transmembrane protein 237 | Labai dažnai (80–99%) | 3 ligose |
| TMEM67transmembrane protein 67 | Labai dažnai (80–99%) | 2 ligose |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Labai dažnai (80–99%) | 1 ligoje |
| ZNF423zinc finger protein 423 | Labai dažnai (80–99%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Dažnai (30–79%) | 1 ligoje |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Dažnai (30–79%) | 1 ligoje |
| COQ4coenzyme Q4 | Dažnai (30–79%) | 1 ligoje |
| DDCdopa decarboxylase | Dažnai (30–79%) | 1 ligoje |
| DHRSXdehydrogenase/reductase X-linked | Dažnai (30–79%) | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Dažnai (30–79%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Dažnai (30–79%) | 2 ligose |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| HDAC9histone deacetylase 9 | Dažnai (30–79%) | 1 ligoje |
| HSPD1heat shock protein family D (Hsp60) member 1 | Dažnai (30–79%) | 1 ligoje |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Dažnai (30–79%) | 4 ligose |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Dažnai (30–79%) | 2 ligose |
| LIFRLIF receptor subunit alpha | Dažnai (30–79%) | 2 ligose |
| MRPL39mitochondrial ribosomal protein L39 | Dažnai (30–79%) | 1 ligoje |
| MYL1myosin light chain 1 | Dažnai (30–79%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Dažnai (30–79%) | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Dažnai (30–79%) | 1 ligoje |
| PLAAphospholipase A2 activating protein | Dažnai (30–79%) | 2 ligose |
| PRRT2proline rich transmembrane protein 2 | Dažnai (30–79%) | 1 ligoje |
| PSAT1phosphoserine aminotransferase 1 | Dažnai (30–79%) | 1 ligoje |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Dažnai (30–79%) | 4 ligose |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Dažnai (30–79%) | 1 ligoje |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Dažnai (30–79%) | 1 ligoje |
| SFTPBsurfactant protein B | Dažnai (30–79%) | 1 ligoje |
| SLC18A3solute carrier family 18 member A3 | Dažnai (30–79%) | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Dažnai (30–79%) | 1 ligoje |
| TSEN15tRNA splicing endonuclease subunit 15 | Dažnai (30–79%) | 1 ligoje |
| TSEN2tRNA splicing endonuclease subunit 2 | Dažnai (30–79%) | 1 ligoje |
| TSEN34tRNA splicing endonuclease subunit 34 | Dažnai (30–79%) | 1 ligoje |
| TSEN54tRNA splicing endonuclease subunit 54 | Dažnai (30–79%) | 1 ligoje |
| ACY1aminoacylase 1 | Kartais (5–29%) | 1 ligoje |
| ADGRG1adhesion G protein-coupled receptor G1 | Kartais (5–29%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| BTDbiotinidase | Kartais (5–29%) | 2 ligose |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Kartais (5–29%) | 1 ligoje |
| BUB3BUB3 mitotic checkpoint protein | Kartais (5–29%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Kartais (5–29%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Kartais (5–29%) | 1 ligoje |
| CEP57centrosomal protein 57 | Kartais (5–29%) | 1 ligoje |
| CLCN7Cl-/H+ antiporter 7 | Kartais (5–29%) | 1 ligoje |
| CRLS1cardiolipin synthase 1 | Kartais (5–29%) | 1 ligoje |
| CRYABcrystallin alpha B | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| FAM149B1family with sequence similarity 149 member B1 | Kartais (5–29%) | 1 ligoje |
| FBN1fibrillin 1 | Kartais (5–29%) | 1 ligoje |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Kartais (5–29%) | 1 ligoje |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Kartais (5–29%) | 1 ligoje |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Kartais (5–29%) | 1 ligoje |
| KIF7kinesin family member 7 | Kartais (5–29%) | 1 ligoje |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Kartais (5–29%) | 1 ligoje |
| MOGSmannosyl-oligosaccharide glucosidase | Kartais (5–29%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Kartais (5–29%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Kartais (5–29%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Kartais (5–29%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Kartais (5–29%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Kartais (5–29%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Kartais (5–29%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Kartais (5–29%) | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Kartais (5–29%) | 1 ligoje |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Kartais (5–29%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Kartais (5–29%) | 1 ligoje |
| MTHFRmethylenetetrahydrofolate reductase | Kartais (5–29%) | 1 ligoje |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Kartais (5–29%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Kartais (5–29%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Kartais (5–29%) | 1 ligoje |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Kartais (5–29%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Kartais (5–29%) | 1 ligoje |
| PLPBPpyridoxal phosphate binding protein | Kartais (5–29%) | 1 ligoje |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Kartais (5–29%) | 1 ligoje |
| PURApurine rich element binding protein A | Kartais (5–29%) | 1 ligoje |
| RBM10RNA binding motif protein 10 | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RNF125ring finger protein 125 | Kartais (5–29%) | 1 ligoje |
| SKISKI proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SLC1A3solute carrier family 1 member 3 | Kartais (5–29%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC6A5solute carrier family 6 member 5 | Kartais (5–29%) | 1 ligoje |
| SNX10sorting nexin 10 | Kartais (5–29%) | 1 ligoje |
| SRPX2sushi repeat containing protein X-linked 2 | Kartais (5–29%) | 1 ligoje |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Kartais (5–29%) | 1 ligoje |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Kartais (5–29%) | 1 ligoje |
| TNFSF11TNF superfamily member 11 | Kartais (5–29%) | 1 ligoje |
| TOE1target of EGR1, exonuclease | Kartais (5–29%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Kartais (5–29%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Kartais (5–29%) | 1 ligoje |
| ABCA3ATP binding cassette subfamily A member 3 | Neužfiksuota | 1 ligoje |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Neužfiksuota | 1 ligoje |
| BCHEbutyrylcholinesterase | Neužfiksuota | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Neužfiksuota | 1 ligoje |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Neužfiksuota | 1 ligoje |
| FBP1fructose-bisphosphatase 1 | Neužfiksuota | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Neužfiksuota | 1 ligoje |
| GLRA1glycine receptor alpha 1 | Neužfiksuota | 1 ligoje |
| GNAI3G protein subunit alpha i3 | Neužfiksuota | 1 ligoje |
| GPHNgephyrin | Neužfiksuota | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Neužfiksuota | 1 ligoje |
| LIASlipoic acid synthetase | Neužfiksuota | 1 ligoje |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Neužfiksuota | 1 ligoje |
| MYO9Amyosin IXA | Neužfiksuota | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Neužfiksuota | 1 ligoje |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Neužfiksuota | 1 ligoje |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Neužfiksuota | 1 ligoje |
| NEBnebulin | Neužfiksuota | 1 ligoje |
| NFIXnuclear factor I X | Neužfiksuota | 1 ligoje |
| PCCApropionyl-CoA carboxylase subunit alpha | Neužfiksuota | 1 ligoje |
| PCCBpropionyl-CoA carboxylase subunit beta | Neužfiksuota | 1 ligoje |
| PCK1phosphoenolpyruvate carboxykinase 1 | Neužfiksuota | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Neužfiksuota | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Neužfiksuota | 1 ligoje |
| PHOX2Bpaired like homeobox 2B | Neužfiksuota | 1 ligoje |
| PLCB4phospholipase C beta 4 | Neužfiksuota | 1 ligoje |
| PRNPprion protein (Kanno blood group) | Neužfiksuota | 1 ligoje |
| PTF1Apancreas associated transcription factor 1a | Neužfiksuota | 1 ligoje |
| SLC6A9solute carrier family 6 member 9 | Neužfiksuota | 1 ligoje |
| TMEM107transmembrane protein 107 | Neužfiksuota | 1 ligoje |
| TSPYL1TSPY like 1 | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 1 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.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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