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Požymis

Coma

The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.

HPO HP:0001259

Santrauka

Taip pat vadinama
Persistent vegetative state, Stupor, Unconsciousness
Kūno sistema
Abnormality of the nervous system

91 genas susijęs su Coma

Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Coma. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.

GenasKaip dažnai pasireiškiaLigos
ABCB1ATP binding cassette subfamily B member 1Visada1 ligoje
DNM1Ldynamin 1LVisada1 ligoje
GCSHglycine cleavage system protein HVisada1 ligoje
IL18BPinterleukin 18 binding proteinVisada1 ligoje
LYRM7LYR motif containing 7Visada1 ligoje
MC2Rmelanocortin 2 receptorVisada1 ligoje
MCCC1methylcrotonyl-CoA carboxylase subunit 1Visada1 ligoje
MMADHCmetabolism of cobalamin associated DVisada1 ligoje
NAXENAD(P)HX epimeraseVisada1 ligoje
NDUFA2NADH:ubiquinone oxidoreductase subunit A2Visada1 ligoje
NIT1nitrilase 1Visada1 ligoje
RNU2-2RNA, U2 small nuclear 2Visada1 ligoje
SLC19A3solute carrier family 19 member 3Visada1 ligoje
TANGO2transport and golgi organization 2 homologVisada1 ligoje
APPamyloid beta precursor proteinLabai dažnai (80–99%)2 ligose
HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2Labai dažnai (80–99%)1 ligoje
HNF4Ahepatocyte nuclear factor 4 alphaLabai dažnai (80–99%)1 ligoje
MMUTmethylmalonyl-CoA mutaseLabai dažnai (80–99%)3 ligose
RANBP2RAN binding protein 2Labai dažnai (80–99%)2 ligose
ACAT1acetyl-CoA acetyltransferase 1Dažnai (30–79%)1 ligoje
ATP1A2ATPase Na+/K+ transporting subunit alpha 2Dažnai (30–79%)2 ligose
CPT1Acarnitine palmitoyltransferase 1ADažnai (30–79%)2 ligose
CYC1cytochrome c1Dažnai (30–79%)1 ligoje
EIF2B5eukaryotic translation initiation factor 2B subunit epsilonDažnai (30–79%)1 ligoje
NAGSN-acetylglutamate synthaseDažnai (30–79%)2 ligose
OTCornithine transcarbamylaseDažnai (30–79%)2 ligose
POLGDNA polymerase gamma, catalytic subunitDažnai (30–79%)1 ligoje
POLR3KRNA polymerase III subunit KDažnai (30–79%)1 ligoje
SLC22A5solute carrier family 22 member 5Dažnai (30–79%)1 ligoje
SOX10SRY-box transcription factor 10Dažnai (30–79%)1 ligoje
SQORsulfide quinone oxidoreductaseDažnai (30–79%)1 ligoje
TTC19tetratricopeptide repeat domain 19Dažnai (30–79%)1 ligoje
ABCC8ATP binding cassette subfamily C member 8Kartais (5–29%)2 ligose
ACADMacyl-CoA dehydrogenase medium chainKartais (5–29%)2 ligose
AUHAU RNA binding methylglutaconyl-CoA hydrataseKartais (5–29%)1 ligoje
CACNA1Acalcium voltage-gated channel subunit alpha1 AKartais (5–29%)2 ligose
CPT2carnitine palmitoyltransferase 2Kartais (5–29%)2 ligose
FBP1fructose-bisphosphatase 1Kartais (5–29%)2 ligose
FHfumarate hydrataseKartais (5–29%)1 ligoje
GCKglucokinaseKartais (5–29%)2 ligose
Rodyti dar 51 geną
GenasKaip dažnai pasireiškiaLigos
HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alphaKartais (5–29%)1 ligoje
HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit betaKartais (5–29%)1 ligoje
HLCSholocarboxylase synthetaseKartais (5–29%)2 ligose
HMGCL3-hydroxy-3-methylglutaryl-CoA lyaseKartais (5–29%)2 ligose
INSinsulinKartais (5–29%)1 ligoje
INSRinsulin receptorKartais (5–29%)1 ligoje
IVDisovaleryl-CoA dehydrogenaseKartais (5–29%)2 ligose
KCNJ11potassium inwardly rectifying channel subfamily J member 11Kartais (5–29%)1 ligoje
KYNUkynureninaseKartais (5–29%)1 ligoje
MEN1menin 1Kartais (5–29%)2 ligose
OXCT13-oxoacid CoA-transferase 1Kartais (5–29%)1 ligoje
PDX1pancreatic and duodenal homeobox 1Kartais (5–29%)1 ligoje
PRF1perforin 1Kartais (5–29%)2 ligose
PRRT2proline rich transmembrane protein 2Kartais (5–29%)1 ligoje
SCN1Asodium voltage-gated channel alpha subunit 1Kartais (5–29%)1 ligoje
SLC25A13solute carrier family 25 member 13Kartais (5–29%)2 ligose
SLC25A15solute carrier family 25 member 15Kartais (5–29%)2 ligose
SLC25A20solute carrier family 25 member 20Kartais (5–29%)2 ligose
SLC7A7solute carrier family 7 member 7Kartais (5–29%)2 ligose
STAT3signal transducer and activator of transcription 3Kartais (5–29%)1 ligoje
STX11syntaxin 11Kartais (5–29%)1 ligoje
STXBP2syntaxin binding protein 2Kartais (5–29%)1 ligoje
TBK1TANK binding kinase 1Kartais (5–29%)1 ligoje
TICAM1TIR domain containing adaptor molecule 1Kartais (5–29%)1 ligoje
TLR3toll like receptor 3Kartais (5–29%)1 ligoje
TRAF3TNF receptor associated factor 3Kartais (5–29%)1 ligoje
UNC13Dunc-13 homolog DKartais (5–29%)1 ligoje
UNC93B1unc-93B1 regulator of TLR signalingKartais (5–29%)1 ligoje
YY1YY1 transcription factorKartais (5–29%)1 ligoje
ALDOBaldolase, fructose-bisphosphate BRetai (1–4 %)2 ligose
BRAFB-Raf proto-oncogene, serine/threonine kinaseRetai (1–4 %)1 ligoje
CDKN1Bcyclin dependent kinase inhibitor 1BRetai (1–4 %)1 ligoje
CDKN2Bcyclin dependent kinase inhibitor 2BRetai (1–4 %)1 ligoje
CTNNB1catenin beta 1Retai (1–4 %)1 ligoje
HMBShydroxymethylbilane synthaseRetai (1–4 %)1 ligoje
PPOXprotoporphyrinogen oxidaseRetai (1–4 %)1 ligoje
ASLargininosuccinate lyaseNeužfiksuota1 ligoje
ASS1argininosuccinate synthase 1Neužfiksuota1 ligoje
ATP7BATPase copper transporting betaNeužfiksuota1 ligoje
BCKDHAbranched chain keto acid dehydrogenase E1 subunit alphaNeužfiksuota1 ligoje
CFHcomplement factor HNeužfiksuota1 ligoje
CFHR1complement factor H related 1Neužfiksuota1 ligoje
CFHR3complement factor H related 3Neužfiksuota1 ligoje
CPS1carbamoyl-phosphate synthase 1Neužfiksuota1 ligoje
GKglycerol kinaseNeužfiksuota1 ligoje
MCCC2methylcrotonyl-CoA carboxylase subunit 2Neužfiksuota1 ligoje
MMAAmetabolism of cobalamin associated ANeužfiksuota1 ligoje
MMABmetabolism of cobalamin associated BNeužfiksuota1 ligoje
NDUFS4NADH:ubiquinone oxidoreductase subunit S4Neužfiksuota1 ligoje
PCCApropionyl-CoA carboxylase subunit alphaNeužfiksuota1 ligoje
PCCBpropionyl-CoA carboxylase subunit betaNeužfiksuota1 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.

Siauresni požymiai

Platesni požymiai

Disturbances of consciousness

Iš kur tai žinoma

  • Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
  • Duomenų leidimas 2026.10.17-8666dff2.

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