Term ID: 2919
Name: Ketonuria
Synonym: Acetonuria; Ketoaciduria; Ketonaciduria; Ketone bodies in urine
Definition: High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.
Comments:
Reference: HP:0002919
Genes and Diseases: Child Nodes: ........Increased urinary cortisol level (HP:0012030) Sister Nodes: ..Abnormal urinary acylglycine profile (HP:0012073) ..Abnormal urinary color (HP:0012086) ..Abnormal urinary electrolyte concentration (HP:0012591) ..Abnormal urinary odor (HP:0012088) ..Abnormal urinary sulfate concentration (HP:0012612) ..Abnormal urine alpha-ketoglutarate concentration (HP:0012401) ..Abnormal urine citrate concentration (HP:0012404) ..Abnormal urine cytology (HP:0012614) ..Abnormality of urinary uric acid level (HP:0012610) ..Abnormality of urine bicarbonate level (HP:0011279) ..Abnormality of urine catecholamine level (HP:0011281) ..Absent urinary urothione (HP:0003606) ..Aciduria (HP:0012072) ..Bacteriuria (HP:0012461) ..Bilirubinuria (HP:0031811) ..Elevated urine pyrophosphate (HP:0003491) ..Foamy urine (HP:0031504) ..Hemoglobinuria (HP:0003641) ..Hemosiderinuria (HP:0012543) ..Hyperuricosuria (HP:0003149) ..Hyposthenuria (HP:0003158) ..Increased urinary glycerol (HP:0040301) ..Increased urinary sulfite (HP:0011942) ..Increased urinary thiosulfate (HP:0011943) ..Increased urine urobilinogen (HP:0031890) ..Low urinary cyclic AMP response to PTH administration (HP:0003456) ..Myoglobinuria (HP:0002913) ..Nitrituria (HP:0031812) ..obsolete Abnormality of urine glucose concentration (HP:0011016) ..Parathormone-independent increased renal tubular calcium reabsorption (HP:0003529) ..Proteinuria (HP:0000093) ..Trimethylaminuria (HP:0003614) ..Urinary glycosaminoglycan excretion (HP:0003541) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0002919 HP:0002919 Ketonuria 0 ABCC8 CL E G H 6833 59 OMIM:618857 DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3 245 HP:0002919 HP:0002919 Ketonuria 0 ABCC8 CL E G H 6833 59 ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0040282 - Frequent 245 HP:0002919 HP:0002919 Ketonuria 0 ACAT1 CL E G H 38 93 ORPHA:134 Beta-ketothiolase deficiency HP:0040281 - Very frequent 91 HP:0002919 HP:0002919 Ketonuria 0 CA5A CL E G H 763 1377 OMIM:615751 Hyperammonemia due to carbonic anhydrase VA deficiency . 10 HP:0002919 HP:0002919 Ketonuria 0 COX14 CL E G H 84987 28216 OMIM:619053 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10 4 HP:0002919 HP:0002919 Ketonuria 0 COX16 CL E G H 51241 20213 OMIM:619355 MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 HP:0002919 HP:0002919 Ketonuria 0 CYC1 CL E G H 1537 2579 OMIM:615453 Mitochondrial complex III deficiency, nuclear type 6 12 HP:0002919 HP:0002919 Ketonuria 0 GCDH CL E G H 2639 4189 OMIM:231670 Glutaric acidemia I . 115 HP:0002919 HP:0002919 Ketonuria 0 GCK CL E G H 2645 4195 ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0040282 - Frequent 237 HP:0002919 HP:0002919 Ketonuria 0 GYS2 CL E G H 2998 4707 ORPHA:2089 Glycogen storage disease due to hepatic glycogen synthase deficiency HP:0040282 - Frequent 100 HP:0002919 HP:0002919 Ketonuria 0 HMGCL CL E G H 3155 5005 ORPHA:20 3-hydroxy-3-methylglutaric aciduria HP:0040283 - Occasional 35 HP:0002919 HP:0002919 Ketonuria 0 INS CL E G H 3630 6081 ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0040282 - Frequent 62 HP:0002919 HP:0002919 Ketonuria 0 KCNJ11 CL E G H 3767 6257 ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0040282 - Frequent 127 HP:0002919 HP:0002919 Ketonuria 0 LETM1 CL E G H 3954 6556 OMIM:620089 2 HP:0002919 HP:0002919 Ketonuria 0 MCCC1 CL E G H 56922 6936 OMIM:210200 3-Methylcrotonyl-CoA carboxylase 1 deficiency . 81 HP:0002919 HP:0002919 Ketonuria 0 MCCC2 CL E G H 64087 6937 OMIM:210210 3-Methylcrotonyl-CoA carboxylase 2 deficiency . 77 HP:0002919 HP:0002919 Ketonuria 0 MCEE CL E G H 84693 16732 OMIM:251120 Methylmalonyl-Coa epimerase deficiency . 19 HP:0002919 HP:0002919 Ketonuria 0 MMAA CL E G H 166785 18871 OMIM:251100 Methylmalonic aciduria, Cbla type . 113 HP:0002919 HP:0002919 Ketonuria 0 MMAB CL E G H 326625 19331 OMIM:251110 Methylmalonic aciduria, Cblb type . 127 HP:0002919 HP:0002919 Ketonuria 0 MMACHC CL E G H 25974 24525 ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0040283 - Occasional 101 HP:0002919 HP:0002919 Ketonuria 0 OXCT1 CL E G H 5019 8527 OMIM:245050 Succinyl CoA:3-oxoacid CoA transferase deficiency . 52 HP:0002919 HP:0002919 Ketonuria 0 PCK1 CL E G H 5105 8724 OMIM:261680 Phosphoenolpyruvate carboxykinase deficiency, cytosolic . 53 HP:0002919 HP:0002919 Ketonuria 0 PDX1 CL E G H 3651 6107 ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0040282 - Frequent 30 HP:0002919 HP:0002919 Ketonuria 0 SDHD CL E G H 6392 10683 OMIM:619167 MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3 129 HP:0002919 HP:0002919 Ketonuria 0 SLC16A1 CL E G H 6566 10922 OMIM:616095 Monocarboxylate transporter 1 deficiency . 74 HP:0002919 HP:0002919 Ketonuria 0 SLC25A13 CL E G H 10165 10983 ORPHA:247598 Neonatal intrahepatic cholestasis due to citrin deficiency HP:0040283 - Occasional 82 HP:0002919 HP:0002919 Ketonuria 0 STAT3 CL E G H 6774 11364 ORPHA:99885 Isolated permanent neonatal diabetes mellitus HP:0040282 - Frequent 110 HP:0002919 HP:0002919 Ketonuria 0 SUGCT CL E G H 79783 16001 ORPHA:35706 Glutaric acidemia type 3 HP:0040283 - Occasional 8 HP:0002919 HP:0002919 Ketonuria 0 TANGO2 CL E G H 128989 25439 OMIM:616878 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration . 12 HP:0002919 HP:0002919 Ketonuria 0 TANGO2 CL E G H 128989 25439 ORPHA:480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome HP:0040281 - Very frequent 12 HP:0002919 HP:0033407 Elevated urine acetoacetic acid level 1 LETM1 CL E G H 3954 6556 OMIM:620089 2
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
