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Trait

Elevated creatinine

Clinical name: Elevated circulating creatinine concentration

An increased amount of creatinine in the blood.

HPO HP:0003259

Summary

Also called
High blood creatinine level, Increased creatinine, Increased serum creatinine, Elevated serum creatinine
Body system
Laboratory abnormality

56 genes linked to Elevated creatinine

Changes in these genes cause rare conditions in which Elevated creatinine is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
ALG8ALG8 alpha-1,3-glucosyltransferaseAlwaysIn 1 condition
APRTadenine phosphoribosyltransferaseAlwaysIn 1 condition
C1GALT1C1C1GALT1 specific chaperone 1AlwaysIn 1 condition
CC2D2Acoiled-coil and C2 domain containing 2AAlwaysIn 1 condition
CLDN16claudin 16AlwaysIn 1 condition
CPT2carnitine palmitoyltransferase 2AlwaysIn 1 condition
EEFSECeukaryotic elongation factor, selenocysteine-tRNA specificAlwaysIn 1 condition
HOXA13homeobox A13AlwaysIn 1 condition
IFT140intraflagellar transport 140AlwaysIn 2 conditions
MLIPmuscular LMNA interacting proteinAlwaysIn 1 condition
PAX2paired box 2AlwaysIn 1 condition
PLD4phospholipase D family member 4AlwaysIn 1 condition
PSKH1protein serine kinase H1AlwaysIn 1 condition
SEC61A1SEC61 translocon subunit alpha 1AlwaysIn 1 condition
SLC41A1solute carrier family 41 member 1AlwaysIn 1 condition
SLC4A2solute carrier family 4 member 2AlwaysIn 1 condition
TMEM260transmembrane protein 260AlwaysIn 1 condition
WDR19WD repeat domain 19AlwaysIn 1 condition
ALG5ALG5 dolichyl-phosphate beta-glucosyltransferaseVery often (80–99%)In 1 condition
ALG9ALG9 alpha-1,2-mannosyltransferaseVery often (80–99%)In 1 condition
BICC1BicC family RNA binding protein 1Very often (80–99%)In 1 condition
DNAJB11DnaJ heat shock protein family (Hsp40) member B11Very often (80–99%)In 1 condition
GANABglucosidase II alpha subunitVery often (80–99%)In 1 condition
NEK8NIMA related kinase 8Very often (80–99%)In 1 condition
PKD1polycystin 1, transient receptor potential channel interactingVery often (80–99%)In 1 condition
PKD2polycystin 2, transient receptor potential cation channelVery often (80–99%)In 2 conditions
UMODuromodulinVery often (80–99%)In 1 condition
CCND1cyclin D1Often (30–79%)In 1 condition
DBHdopamine beta-hydroxylaseOften (30–79%)In 1 condition
HNF1BHNF1 homeobox BOften (30–79%)In 1 condition
IFT56intraflagellar transport 56Often (30–79%)In 1 condition
MRPS7mitochondrial ribosomal protein S7Often (30–79%)In 1 condition
SLC22A12solute carrier family 22 member 12Often (30–79%)In 1 condition
TREX1three prime repair exonuclease 1Often (30–79%)In 1 condition
CTNScystinosin, lysosomal cystine transporterSometimes (5–29%)In 1 condition
HBBhemoglobin subunit betaSometimes (5–29%)In 1 condition
HPRT1hypoxanthine phosphoribosyltransferase 1Sometimes (5–29%)In 1 condition
NPHP1nephrocystin 1Sometimes (5–29%)In 1 condition
SLC4A1solute carrier family 4 member 1 (Diego blood group)Sometimes (5–29%)In 1 condition
CORINcorin, serine peptidaseRarely (1–4%)In 1 condition
Show 16 more genes
GeneHow often it is seenConditions
FLT1fms related receptor tyrosine kinase 1Rarely (1–4%)In 1 condition
STOX1storkhead box 1Rarely (1–4%)In 1 condition
ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13Not recordedIn 1 condition
C3complement C3Not recordedIn 1 condition
CD46CD46 moleculeNot recordedIn 1 condition
CFBcomplement factor BNot recordedIn 1 condition
CFHcomplement factor HNot recordedIn 1 condition
CFHR1complement factor H related 1Not recordedIn 1 condition
CFHR3complement factor H related 3Not recordedIn 1 condition
CFIcomplement factor INot recordedIn 1 condition
COQ7coenzyme Q7, hydroxylaseNot recordedIn 1 condition
ELP1elongator acetyltransferase complex subunit 1Not recordedIn 1 condition
FAN1FANCD2 and FANCI associated nuclease 1Not recordedIn 1 condition
INVSinversinNot recordedIn 1 condition
MUC1mucin 1, cell surface associatedNot recordedIn 1 condition
THBDthrombomodulinNot recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal blood creatinine levelAzotemia

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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