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Požymis

Low blood potassium levels

Klinikinis pavadinimas: Hypokalemia

The concentration of potassium(1+) in the blood circulation is below the lower limit of normal.

HPO HP:0002900

Santrauka

Taip pat vadinama
Decreased potassium(1+) concentration, Decreased potassium(1+) level, Decreased potassium(1+) level in blood, Reduced potassium(1+) concentration, Reduced potassium(1+) level, Reduced potassium(1+) level in blood
Kūno sistema
Laboratory abnormality

62 genų susiję su Low blood potassium levels

Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Low blood potassium levels. 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
ATP1A1ATPase Na+/K+ transporting subunit alpha 1Visada1 ligoje
BSNDbarttin CLCNK type accessory subunit betaVisada2 ligose
CACNA1Dcalcium voltage-gated channel subunit alpha1 DVisada2 ligose
CACNA1Scalcium voltage-gated channel subunit alpha1 SVisada2 ligose
CLCN2chloride voltage-gated channel 2Visada2 ligose
CLCNKBchloride voltage-gated channel KbVisada4 ligose
CTNScystinosin, lysosomal cystine transporterVisada3 ligose
KCNJ1potassium inwardly rectifying channel subfamily J member 1Visada1 ligoje
KCNJ10potassium inwardly rectifying channel subfamily J member 10Visada2 ligose
KCNJ18potassium inwardly rectifying channel subfamily J member 18Visada1 ligoje
NHEJ1non-homologous end joining factor 1Visada1 ligoje
PKD2polycystin 2, transient receptor potential cation channelVisada1 ligoje
SCN4Asodium voltage-gated channel alpha subunit 4Visada3 ligose
SCNN1Asodium channel epithelial 1 subunit alphaVisada2 ligose
SCNN1Bsodium channel epithelial 1 subunit betaVisada2 ligose
SCNN1Gsodium channel epithelial 1 subunit gammaVisada2 ligose
SERPINA6serpin family A member 6Visada1 ligoje
SLC12A1solute carrier family 12 member 1Visada1 ligoje
SLC26A3solute carrier family 26 member 3Visada1 ligoje
SLC4A4solute carrier family 4 member 4Visada1 ligoje
ATP6V0A4ATPase H+ transporting V0 subunit a4Labai dažnai (80–99%)1 ligoje
ATP6V1B1ATPase H+ transporting V1 subunit B1Labai dažnai (80–99%)1 ligoje
CLCNKAchloride voltage-gated channel KaLabai dažnai (80–99%)2 ligose
CYP11B1cytochrome P450 family 11 subfamily B member 1Labai dažnai (80–99%)3 ligose
HSD11B2hydroxysteroid 11-beta dehydrogenase 2Labai dažnai (80–99%)2 ligose
KCNJ5potassium inwardly rectifying channel subfamily J member 5Labai dažnai (80–99%)2 ligose
SLC12A3solute carrier family 12 member 3Labai dažnai (80–99%)2 ligose
CDKN2Acyclin dependent kinase inhibitor 2ADažnai (30–79%)1 ligoje
CTNNB1catenin beta 1Dažnai (30–79%)1 ligoje
CYP17A1cytochrome P450 family 17 subfamily A member 1Dažnai (30–79%)1 ligoje
DEF6DEF6 guanine nucleotide exchange factorDažnai (30–79%)1 ligoje
EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenaseDažnai (30–79%)1 ligoje
FXYD2FXYD domain containing ion transport regulator 2Dažnai (30–79%)1 ligoje
GATMglycine amidinotransferaseDažnai (30–79%)1 ligoje
GEMIN4gem nuclear organelle associated protein 4Dažnai (30–79%)1 ligoje
NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6Dažnai (30–79%)1 ligoje
NR3C1nuclear receptor subfamily 3 group C member 1Dažnai (30–79%)1 ligoje
NUP214nucleoporin 214Dažnai (30–79%)1 ligoje
OCRLOCRL inositol polyphosphate-5-phosphataseDažnai (30–79%)1 ligoje
PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alphaDažnai (30–79%)1 ligoje
Rodyti dar 22 genų
GenasKaip dažnai pasireiškiaLigos
RRAGDRas related GTP binding DDažnai (30–79%)1 ligoje
SLC34A1solute carrier family 34 member 1Dažnai (30–79%)1 ligoje
TERTtelomerase reverse transcriptaseDažnai (30–79%)1 ligoje
TP53tumor protein p53Dažnai (30–79%)1 ligoje
ZNRF3zinc and ring finger 3Dažnai (30–79%)1 ligoje
ASLargininosuccinate lyaseKartais (5–29%)1 ligoje
CASRcalcium sensing receptorKartais (5–29%)1 ligoje
CDH23cadherin related 23Kartais (5–29%)1 ligoje
CYP11B2cytochrome P450 family 11 subfamily B member 2Kartais (5–29%)1 ligoje
H6PDhexose-6-phosphate dehydrogenase/glucose 1-dehydrogenaseKartais (5–29%)1 ligoje
HSD11B1hydroxysteroid 11-beta dehydrogenase 1Kartais (5–29%)1 ligoje
INSRinsulin receptorKartais (5–29%)2 ligose
SLC4A1solute carrier family 4 member 1 (Diego blood group)Kartais (5–29%)2 ligose
UNC45Aunc-45 myosin chaperone AKartais (5–29%)1 ligoje
AIPAHR interacting HSP90 co-chaperoneNeužfiksuota1 ligoje
BMPR1Abone morphogenetic protein receptor type 1ANeužfiksuota1 ligoje
CLDN10claudin 10Neužfiksuota1 ligoje
KCNJ2potassium inwardly rectifying channel subfamily J member 2Neužfiksuota1 ligoje
MAGED2MAGE family member D2Neužfiksuota1 ligoje
SLC2A2solute carrier family 2 member 2Neužfiksuota1 ligoje
SMAD4SMAD family member 4Neužfiksuota1 ligoje
USP8ubiquitin specific peptidase 8Neužfiksuota1 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

Abnormal circulating potassium concentration

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 2026.10.16-c6eea6bf.

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