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Tunnus

Abnormal function of filtrating structures in kidney

Kliiniline nimetus: Renal tubular dysfunction

Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.

HPO HP:0000124

Kokkuvõte

Teised nimetused
Renal tubular defect
Kehasüsteem
Abnormality of the genitourinary system

34 geeni on seotud tunnusega Abnormal function of filtrating structures in kidney

Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal function of filtrating structures in kidney. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.

GeenKui sageli seda täheldatakseHaigused
SLC5A2solute carrier family 5 member 2AlatiEsineb 1 haiguses
CTNScystinosin, lysosomal cystine transporterVäga sageli (80–99%)Esineb 1 haiguses
COA8cytochrome c oxidase assembly factor 8Sageli (30–79%)Esineb 1 haiguses
GNASGNAS complex locusSageli (30–79%)Esineb 1 haiguses
SLC7A7solute carrier family 7 member 7Sageli (30–79%)Esineb 1 haiguses
TRMT5tRNA methyltransferase 5Sageli (30–79%)Esineb 1 haiguses
VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homologSageli (30–79%)Esineb 1 haiguses
VPS33BVPS33B late endosome and lysosome associatedSageli (30–79%)Esineb 1 haiguses
ABCC8ATP binding cassette subfamily C member 8Mõnikord (5–29%)Esineb 1 haiguses
GCKglucokinaseMõnikord (5–29%)Esineb 1 haiguses
INSinsulinMõnikord (5–29%)Esineb 1 haiguses
KCNJ11potassium inwardly rectifying channel subfamily J member 11Mõnikord (5–29%)Esineb 1 haiguses
MMUTmethylmalonyl-CoA mutaseMõnikord (5–29%)Esineb 1 haiguses
PDX1pancreatic and duodenal homeobox 1Mõnikord (5–29%)Esineb 1 haiguses
STAT3signal transducer and activator of transcription 3Mõnikord (5–29%)Esineb 1 haiguses
IARS2isoleucyl-tRNA synthetase 2, mitochondrialHarva (1–4%)Esineb 1 haiguses
KCNJ2potassium inwardly rectifying channel subfamily J member 2Harva (1–4%)Esineb 1 haiguses
KCNJ5potassium inwardly rectifying channel subfamily J member 5Harva (1–4%)Esineb 1 haiguses
ATP7BATPase copper transporting betaPole 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
GATMglycine amidinotransferasePole registreeritudEsineb 1 haiguses
MT-TNmitochondrially encoded tRNA-Asn (AAU/C)Pole registreeritudEsineb 1 haiguses
MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1Pole registreeritudEsineb 1 haiguses
PEX19peroxisomal biogenesis factor 19Pole registreeritudEsineb 1 haiguses
PHEXphosphate regulating endopeptidase X-linkedPole registreeritudEsineb 1 haiguses
SCO1synthesis of cytochrome C oxidase 1Pole registreeritudEsineb 1 haiguses
SCO2synthesis of cytochrome C oxidase 2Pole registreeritudEsineb 1 haiguses
SLC2A2solute carrier family 2 member 2Pole registreeritudEsineb 1 haiguses
SLC34A3solute carrier family 34 member 3Pole registreeritudEsineb 1 haiguses
SURF1SURF1 cytochrome c oxidase assembly factorPole registreeritudEsineb 1 haiguses
TACO1translational activator of cytochrome c oxidase IPole 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 kidney function

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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