Tunnus
Coma
The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.
Kokkuvõte
- Teised nimetused
- Persistent vegetative state, Stupor, Unconsciousness
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Coma, and the rest of your genome, with one test.
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Telli oma Genome Test91 geeni on seotud tunnusega Coma
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Coma. 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 |
|---|---|---|
| ABCB1ATP binding cassette subfamily B member 1 | Alati | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| GCSHglycine cleavage system protein H | Alati | Esineb 1 haiguses |
| IL18BPinterleukin 18 binding protein | Alati | Esineb 1 haiguses |
| LYRM7LYR motif containing 7 | Alati | Esineb 1 haiguses |
| MC2Rmelanocortin 2 receptor | Alati | Esineb 1 haiguses |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Alati | Esineb 1 haiguses |
| MMADHCmetabolism of cobalamin associated D | Alati | Esineb 1 haiguses |
| NAXENAD(P)HX epimerase | Alati | Esineb 1 haiguses |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Alati | Esineb 1 haiguses |
| NIT1nitrilase 1 | Alati | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| SLC19A3solute carrier family 19 member 3 | Alati | Esineb 1 haiguses |
| TANGO2transport and golgi organization 2 homolog | Alati | Esineb 1 haiguses |
| APPamyloid beta precursor protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HNF4Ahepatocyte nuclear factor 4 alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| MMUTmethylmalonyl-CoA mutase | Väga sageli (80–99%) | Esineb 3 haiguses |
| RANBP2RAN binding protein 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACAT1acetyl-CoA acetyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sageli (30–79%) | Esineb 2 haiguses |
| CPT1Acarnitine palmitoyltransferase 1A | Sageli (30–79%) | Esineb 2 haiguses |
| CYC1cytochrome c1 | Sageli (30–79%) | Esineb 1 haiguses |
| EIF2B5eukaryotic translation initiation factor 2B subunit epsilon | Sageli (30–79%) | Esineb 1 haiguses |
| NAGSN-acetylglutamate synthase | Sageli (30–79%) | Esineb 2 haiguses |
| OTCornithine transcarbamylase | Sageli (30–79%) | Esineb 2 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| POLR3KRNA polymerase III subunit K | Sageli (30–79%) | Esineb 1 haiguses |
| SLC22A5solute carrier family 22 member 5 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX10SRY-box transcription factor 10 | Sageli (30–79%) | Esineb 1 haiguses |
| SQORsulfide quinone oxidoreductase | Sageli (30–79%) | Esineb 1 haiguses |
| TTC19tetratricopeptide repeat domain 19 | Sageli (30–79%) | Esineb 1 haiguses |
| ABCC8ATP binding cassette subfamily C member 8 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ACADMacyl-CoA dehydrogenase medium chain | Mõnikord (5–29%) | Esineb 2 haiguses |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mõnikord (5–29%) | Esineb 2 haiguses |
| CPT2carnitine palmitoyltransferase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FBP1fructose-bisphosphatase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FHfumarate hydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GCKglucokinase | Mõnikord (5–29%) | Esineb 2 haiguses |
Näita veel 51 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLCSholocarboxylase synthetase | Mõnikord (5–29%) | Esineb 2 haiguses |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Mõnikord (5–29%) | Esineb 2 haiguses |
| INSinsulin | Mõnikord (5–29%) | Esineb 1 haiguses |
| INSRinsulin receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| IVDisovaleryl-CoA dehydrogenase | Mõnikord (5–29%) | Esineb 2 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KYNUkynureninase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEN1menin 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| OXCT13-oxoacid CoA-transferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDX1pancreatic and duodenal homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRF1perforin 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PRRT2proline rich transmembrane protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A13solute carrier family 25 member 13 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC25A15solute carrier family 25 member 15 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC25A20solute carrier family 25 member 20 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC7A7solute carrier family 7 member 7 | Mõnikord (5–29%) | Esineb 2 haiguses |
| STAT3signal transducer and activator of transcription 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STX11syntaxin 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STXBP2syntaxin binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBK1TANK binding kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TICAM1TIR domain containing adaptor molecule 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TLR3toll like receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAF3TNF receptor associated factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UNC13Dunc-13 homolog D | Mõnikord (5–29%) | Esineb 1 haiguses |
| UNC93B1unc-93B1 regulator of TLR signaling | Mõnikord (5–29%) | Esineb 1 haiguses |
| YY1YY1 transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALDOBaldolase, fructose-bisphosphate B | Harva (1–4%) | Esineb 2 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Harva (1–4%) | Esineb 1 haiguses |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Harva (1–4%) | Esineb 1 haiguses |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Harva (1–4%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Harva (1–4%) | Esineb 1 haiguses |
| HMBShydroxymethylbilane synthase | Harva (1–4%) | Esineb 1 haiguses |
| PPOXprotoporphyrinogen oxidase | Harva (1–4%) | Esineb 1 haiguses |
| ASLargininosuccinate lyase | Pole registreeritud | Esineb 1 haiguses |
| ASS1argininosuccinate synthase 1 | Pole registreeritud | Esineb 1 haiguses |
| ATP7BATPase copper transporting beta | Pole registreeritud | Esineb 1 haiguses |
| BCKDHAbranched chain keto acid dehydrogenase E1 subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| CFHcomplement factor H | Pole registreeritud | Esineb 1 haiguses |
| CFHR1complement factor H related 1 | Pole registreeritud | Esineb 1 haiguses |
| CFHR3complement factor H related 3 | Pole registreeritud | Esineb 1 haiguses |
| CPS1carbamoyl-phosphate synthase 1 | Pole registreeritud | Esineb 1 haiguses |
| GKglycerol kinase | Pole registreeritud | Esineb 1 haiguses |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| MMAAmetabolism of cobalamin associated A | Pole registreeritud | Esineb 1 haiguses |
| MMABmetabolism of cobalamin associated B | Pole registreeritud | Esineb 1 haiguses |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Pole registreeritud | Esineb 1 haiguses |
| PCCApropionyl-CoA carboxylase subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| PCCBpropionyl-CoA carboxylase subunit beta | 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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast