Požymis
Pauses in breathing while sleeping
Klinikinis pavadinimas: Sleep apnea
An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.
Santrauka
- Taip pat vadinama
- Sleep apnoea
- Kūno sistema
- Abnormality of the nervous 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 Pauses in breathing while sleeping. 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 |
|---|---|---|
| ABCC9ATP binding cassette subfamily C member 9 | Visada | 1 ligoje |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Visada | 1 ligoje |
| DHRS3dehydrogenase/reductase 3 | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| HSPB8heat shock protein family B (small) member 8 | Visada | 1 ligoje |
| LRRC32leucine rich repeat containing 32 | Visada | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Visada | 1 ligoje |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Visada | 1 ligoje |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Visada | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Visada | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Visada | 1 ligoje |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| VPS51VPS51 subunit of GARP complex | Visada | 1 ligoje |
| ARSBarylsulfatase B | Labai dažnai (80–99%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Labai dažnai (80–99%) | 2 ligose |
| RAI1retinoic acid induced 1 | Labai dažnai (80–99%) | 3 ligose |
| TSPYL1TSPY like 1 | Labai dažnai (80–99%) | 1 ligoje |
| ZBTB7Azinc finger and BTB domain containing 7A | Labai dažnai (80–99%) | 1 ligoje |
| AFF4ALF transcription elongation factor 4 | Dažnai (30–79%) | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| AIPAHR interacting HSP90 co-chaperone | Dažnai (30–79%) | 1 ligoje |
| C2CD3C2 domain containing 3 centriole elongation regulator | Dažnai (30–79%) | 1 ligoje |
| CEP57centrosomal protein 57 | Dažnai (30–79%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Dažnai (30–79%) | 1 ligoje |
| GPR101G protein-coupled receptor 101 | Dažnai (30–79%) | 2 ligose |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Dažnai (30–79%) | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Dažnai (30–79%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Dažnai (30–79%) | 3 ligose |
| MARK2microtubule affinity regulating kinase 2 | Dažnai (30–79%) | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Dažnai (30–79%) | 1 ligoje |
| MRPS34mitochondrial ribosomal protein S34 | Dažnai (30–79%) | 1 ligoje |
| NCAPG2non-SMC condensin II complex subunit G2 | Dažnai (30–79%) | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| NUP54nucleoporin 54 | Dažnai (30–79%) | 1 ligoje |
| PRNPprion protein (Kanno blood group) | Dažnai (30–79%) | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Dažnai (30–79%) | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Dažnai (30–79%) | 1 ligoje |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 49 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Dažnai (30–79%) | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Dažnai (30–79%) | 1 ligoje |
| SRPX2sushi repeat containing protein X-linked 2 | Dažnai (30–79%) | 1 ligoje |
| TCF4transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Kartais (5–29%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| COL13A1collagen type XIII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| CTSHcathepsin H | Kartais (5–29%) | 1 ligoje |
| DPH1diphthamide biosynthesis 1 | Kartais (5–29%) | 1 ligoje |
| DPH2diphthamide biosynthesis 2 | Kartais (5–29%) | 1 ligoje |
| EXT2exostosin glycosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Kartais (5–29%) | 2 ligose |
| FGFR3fibroblast growth factor receptor 3 | Kartais (5–29%) | 2 ligose |
| FXNfrataxin | Kartais (5–29%) | 1 ligoje |
| GSNgelsolin | Kartais (5–29%) | 1 ligoje |
| HCRThypocretin neuropeptide precursor | Kartais (5–29%) | 1 ligoje |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Kartais (5–29%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Kartais (5–29%) | 1 ligoje |
| IDSiduronate 2-sulfatase | Kartais (5–29%) | 1 ligoje |
| LAMB2laminin subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Kartais (5–29%) | 1 ligoje |
| MED27mediator complex subunit 27 | Kartais (5–29%) | 1 ligoje |
| MOGmyelin oligodendrocyte glycoprotein | Kartais (5–29%) | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Kartais (5–29%) | 1 ligoje |
| P2RY11purinergic receptor P2Y11 | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Kartais (5–29%) | 1 ligoje |
| RUNX2RUNX family transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Kartais (5–29%) | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Kartais (5–29%) | 1 ligoje |
| SYT1synaptotagmin 1 | Kartais (5–29%) | 2 ligose |
| TNFSF4TNF superfamily member 4 | Kartais (5–29%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| USP7ubiquitin specific peptidase 7 | Kartais (5–29%) | 1 ligoje |
| ZNF365zinc finger protein 365 | Kartais (5–29%) | 1 ligoje |
| MYT1Lmyelin transcription factor 1 like | Retai (1–4 %) | 1 ligoje |
| PABPN1poly(A) binding protein nuclear 1 | Retai (1–4 %) | 1 ligoje |
| DCTN1dynactin subunit 1 | Neužfiksuota | 1 ligoje |
| FLCNfolliculin | Neužfiksuota | 1 ligoje |
| LTBP3latent transforming growth factor beta binding protein 3 | Neužfiksuota | 1 ligoje |
| NEFHneurofilament heavy chain | Neužfiksuota | 1 ligoje |
| PRPHperipherin | Neužfiksuota | 1 ligoje |
| SOD1superoxide dismutase 1 | 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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