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Tunnus

Decreased liver function

Reduced ability of the liver to perform its functions.

HPO HP:0001410

Kokkuvõte

Teised nimetused
Liver dysfunction, Liver dysfunction, mild
Kehasüsteem
Abnormality of the digestive system

74 geeni on seotud tunnusega Decreased liver function

Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Decreased liver function. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.

GeenKui sageli seda täheldatakseHaigused
ATP6AP2ATPase H+ transporting accessory protein 2AlatiEsineb 1 haiguses
BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperoneAlatiEsineb 1 haiguses
DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunitAlatiEsineb 1 haiguses
FADDFas associated via death domainAlatiEsineb 1 haiguses
FARSBphenylalanyl-tRNA synthetase subunit betaAlatiEsineb 1 haiguses
GCSHglycine cleavage system protein HAlatiEsineb 1 haiguses
LARS2leucyl-tRNA synthetase 2, mitochondrialAlatiEsineb 1 haiguses
MED12mediator complex subunit 12AlatiEsineb 1 haiguses
MICOS13mitochondrial contact site and cristae organizing system subunit 13AlatiEsineb 1 haiguses
MRPS23mitochondrial ribosomal protein S23AlatiEsineb 1 haiguses
VPS51VPS51 subunit of GARP complexAlatiEsineb 1 haiguses
ACADMacyl-CoA dehydrogenase medium chainSageli (30–79%)Esineb 1 haiguses
ALG3ALG3 alpha-1,3- mannosyltransferaseSageli (30–79%)Esineb 1 haiguses
ALG8ALG8 alpha-1,3-glucosyltransferaseSageli (30–79%)Esineb 1 haiguses
BTNL2butyrophilin like 2Sageli (30–79%)Esineb 1 haiguses
COA8cytochrome c oxidase assembly factor 8Sageli (30–79%)Esineb 1 haiguses
COG2component of oligomeric golgi complex 2Sageli (30–79%)Esineb 1 haiguses
GATCglutamyl-tRNA amidotransferase subunit CSageli (30–79%)Esineb 1 haiguses
HLA-DRB1major histocompatibility complex, class II, DR beta 1Sageli (30–79%)Esineb 1 haiguses
LRPPRCleucine rich pentatricopeptide repeat containingSageli (30–79%)Esineb 1 haiguses
LYSTlysosomal trafficking regulatorSageli (30–79%)Esineb 1 haiguses
MPImannose phosphate isomeraseSageli (30–79%)Esineb 1 haiguses
PRF1perforin 1Sageli (30–79%)Esineb 1 haiguses
QRSL1glutaminyl-tRNA amidotransferase subunit QRSL1Sageli (30–79%)Esineb 1 haiguses
SLC25A15solute carrier family 25 member 15Sageli (30–79%)Esineb 2 haiguses
SMPD1sphingomyelin phosphodiesterase 1Sageli (30–79%)Esineb 1 haiguses
STX11syntaxin 11Sageli (30–79%)Esineb 1 haiguses
STXBP2syntaxin binding protein 2Sageli (30–79%)Esineb 1 haiguses
UNC13Dunc-13 homolog DSageli (30–79%)Esineb 1 haiguses
ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferaseMõnikord (5–29%)Esineb 1 haiguses
ASXL1ASXL transcriptional regulator 1Mõnikord (5–29%)Esineb 1 haiguses
CBLCbl proto-oncogeneMõnikord (5–29%)Esineb 1 haiguses
DLDdihydrolipoamide dehydrogenaseMõnikord (5–29%)Esineb 1 haiguses
FECHferrochelataseMõnikord (5–29%)Esineb 1 haiguses
GALMgalactose mutarotaseMõnikord (5–29%)Esineb 1 haiguses
GANABglucosidase II alpha subunitMõnikord (5–29%)Esineb 1 haiguses
HBBhemoglobin subunit betaMõnikord (5–29%)Esineb 1 haiguses
PCK1phosphoenolpyruvate carboxykinase 1Mõnikord (5–29%)Esineb 1 haiguses
PCK2phosphoenolpyruvate carboxykinase 2, mitochondrialMõnikord (5–29%)Esineb 1 haiguses
RNU12RNA, U12 small nuclearMõnikord (5–29%)Esineb 1 haiguses
Näita veel 34 geeni
GeenKui sageli seda täheldatakseHaigused
RUNX1RUNX family transcription factor 1Mõnikord (5–29%)Esineb 1 haiguses
RYR1ryanodine receptor 1Mõnikord (5–29%)Esineb 1 haiguses
SRSF2serine and arginine rich splicing factor 2Mõnikord (5–29%)Esineb 1 haiguses
TET2tet methylcytosine dioxygenase 2Mõnikord (5–29%)Esineb 1 haiguses
PARS2prolyl-tRNA synthetase 2, mitochondrialHarva (1–4%)Esineb 1 haiguses
BLVRAbiliverdin reductase APole registreeritudEsineb 1 haiguses
CCDC47coiled-coil domain containing 47Pole registreeritudEsineb 1 haiguses
COG7component of oligomeric golgi complex 7Pole registreeritudEsineb 1 haiguses
COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10Pole registreeritudEsineb 1 haiguses
COX15cytochrome c oxidase assembly factor COX15Pole registreeritudEsineb 1 haiguses
COX6B1cytochrome c oxidase subunit 6B1Pole registreeritudEsineb 1 haiguses
FASTKD2FASTK mitochondrial RNA regulator 2Pole registreeritudEsineb 1 haiguses
GALTgalactose-1-phosphate uridylyltransferasePole registreeritudEsineb 1 haiguses
IARS1isoleucyl-tRNA synthetase 1Pole registreeritudEsineb 1 haiguses
LIPT1lipoyltransferase 1Pole registreeritudEsineb 1 haiguses
MT-TNmitochondrially encoded tRNA-Asn (AAU/C)Pole registreeritudEsineb 1 haiguses
MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1Pole registreeritudEsineb 1 haiguses
OCLNoccludinPole registreeritudEsineb 1 haiguses
PEX10peroxisomal biogenesis factor 10Pole registreeritudEsineb 2 haiguses
PEX13peroxisomal biogenesis factor 13Pole registreeritudEsineb 1 haiguses
PEX16peroxisomal biogenesis factor 16Pole registreeritudEsineb 1 haiguses
PEX2peroxisomal biogenesis factor 2Pole registreeritudEsineb 1 haiguses
PEX26peroxisomal biogenesis factor 26Pole registreeritudEsineb 1 haiguses
PEX6peroxisomal biogenesis factor 6Pole registreeritudEsineb 1 haiguses
RMND1required for meiotic nuclear division 1 homologPole registreeritudEsineb 1 haiguses
SCO1synthesis of cytochrome C oxidase 1Pole registreeritudEsineb 1 haiguses
SCO2synthesis of cytochrome C oxidase 2Pole registreeritudEsineb 1 haiguses
SLC30A10solute carrier family 30 member 10Pole registreeritudEsineb 1 haiguses
SURF1SURF1 cytochrome c oxidase assembly factorPole registreeritudEsineb 1 haiguses
TACO1translational activator of cytochrome c oxidase IPole registreeritudEsineb 1 haiguses
TALDO1transaldolase 1Pole registreeritudEsineb 1 haiguses
TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunitPole registreeritudEsineb 1 haiguses
UQCRC2ubiquinol-cytochrome c reductase core protein 2Pole registreeritudEsineb 1 haiguses
VMA12vacuolar ATPase assembly factor VMA12Pole registreeritudEsineb 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

Abnormal hepatobiliary system physiology

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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