Tunnus
Pauses in breathing while sleeping
Kliiniline nimetus: 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.
Kokkuvõte
- Teised nimetused
- Sleep apnoea
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Pauses in breathing while sleeping, and the rest of your genome, with one test.
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Telli oma Genome Test89 geeni on seotud tunnusega Pauses in breathing while sleeping
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Pauses in breathing while sleeping. 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 |
|---|---|---|
| ABCC9ATP binding cassette subfamily C member 9 | Alati | Esineb 1 haiguses |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Alati | Esineb 1 haiguses |
| DHRS3dehydrogenase/reductase 3 | Alati | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| HSPB8heat shock protein family B (small) member 8 | Alati | Esineb 1 haiguses |
| LRRC32leucine rich repeat containing 32 | Alati | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Alati | Esineb 1 haiguses |
| MUSKmuscle associated receptor tyrosine kinase | Alati | Esineb 1 haiguses |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Alati | Esineb 1 haiguses |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Alati | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Alati | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Alati | Esineb 1 haiguses |
| TM2D3TM2 domain containing 3 | Alati | Esineb 1 haiguses |
| UBAP2Lubiquitin associated protein 2 like | Alati | Esineb 1 haiguses |
| VPS51VPS51 subunit of GARP complex | Alati | Esineb 1 haiguses |
| ARSBarylsulfatase B | Väga sageli (80–99%) | Esineb 1 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| RAI1retinoic acid induced 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| TSPYL1TSPY like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZBTB7Azinc finger and BTB domain containing 7A | Väga sageli (80–99%) | Esineb 1 haiguses |
| AFF4ALF transcription elongation factor 4 | Sageli (30–79%) | Esineb 2 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AIPAHR interacting HSP90 co-chaperone | Sageli (30–79%) | Esineb 1 haiguses |
| C2CD3C2 domain containing 3 centriole elongation regulator | Sageli (30–79%) | Esineb 1 haiguses |
| CEP57centrosomal protein 57 | Sageli (30–79%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sageli (30–79%) | Esineb 1 haiguses |
| GPR101G protein-coupled receptor 101 | Sageli (30–79%) | Esineb 2 haiguses |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Sageli (30–79%) | Esineb 1 haiguses |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Sageli (30–79%) | Esineb 3 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MKRN3makorin ring finger protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MRPS34mitochondrial ribosomal protein S34 | Sageli (30–79%) | Esineb 1 haiguses |
| NCAPG2non-SMC condensin II complex subunit G2 | Sageli (30–79%) | Esineb 1 haiguses |
| NPAP1nuclear pore associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NUP54nucleoporin 54 | Sageli (30–79%) | Esineb 1 haiguses |
| PRNPprion protein (Kanno blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| PWAR1Prader Willi/Angelman region RNA 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 49 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Sageli (30–79%) | Esineb 1 haiguses |
| SPOPspeckle type BTB/POZ protein | Sageli (30–79%) | Esineb 1 haiguses |
| SRPX2sushi repeat containing protein X-linked 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TCF4transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL13A1collagen type XIII alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTSHcathepsin H | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPH1diphthamide biosynthesis 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPH2diphthamide biosynthesis 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXT2exostosin glycosyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FXNfrataxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| GSNgelsolin | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCRThypocretin neuropeptide precursor | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IDSiduronate 2-sulfatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED27mediator complex subunit 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MOGmyelin oligodendrocyte glycoprotein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| P2RY11purinergic receptor P2Y11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRMT7protein arginine methyltransferase 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RUNX2RUNX family transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC32A1solute carrier family 32 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX9SRY-box transcription factor 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYT1synaptotagmin 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TNFSF4TNF superfamily member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP7ubiquitin specific peptidase 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF365zinc finger protein 365 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYT1Lmyelin transcription factor 1 like | Harva (1–4%) | Esineb 1 haiguses |
| PABPN1poly(A) binding protein nuclear 1 | Harva (1–4%) | Esineb 1 haiguses |
| DCTN1dynactin subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| FLCNfolliculin | Pole registreeritud | Esineb 1 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Pole registreeritud | Esineb 1 haiguses |
| NEFHneurofilament heavy chain | Pole registreeritud | Esineb 1 haiguses |
| PRPHperipherin | Pole registreeritud | Esineb 1 haiguses |
| SOD1superoxide dismutase 1 | Pole registreeritud | 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.
Kitsamad tunnused
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.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast