Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of metabolism/homeostasis (HP:0001939)help
Grandparent Node:
expand
Abnormality of the urinary system physiology (HP:0011277)help
Parent Node:
expand
Abnormality of urine homeostasis (HP:0003110)help
..Starting node
..expand
Abnormal urine alpha-ketoglutarate concentration (HP:0012401)help
Term ID: 12401
Name: Abnormal urine alpha-ketoglutarate concentration
Synonym: Abnormal urinary 2-oxoglutarate level; Abnormality of urine alpha ketoglutarate concentration
Definition: A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.
Comments:
Reference: HP:0012401
Genes and Diseases:
 
       Child Nodes:
........expandIncreased urine alpha-ketoglutarate concentration (HP:0012402) help
........expandDecreased urine alpha-ketoglutarate concentration (HP:0012403) help

 Sister Nodes: 
..expandAbnormal urinary acylglycine profile (HP:0012073) help
..expandAbnormal urinary color (HP:0012086) help
..expandAbnormal urinary electrolyte concentration (HP:0012591) help
..expandAbnormal urinary odor (HP:0012088) help
..expandAbnormal urinary sulfate concentration (HP:0012612) help
..expandAbnormal urine citrate concentration (HP:0012404) help
..expandAbnormal urine cytology (HP:0012614) help
..expandAbnormality of urinary uric acid level (HP:0012610) help
..expandAbnormality of urine bicarbonate level (HP:0011279) help
..expandAbnormality of urine catecholamine level (HP:0011281) help
..expandAbsent urinary urothione (HP:0003606) help
..expandAciduria (HP:0012072) help
..expandBacteriuria (HP:0012461) help
..expandBilirubinuria (HP:0031811) help
..expandElevated urine pyrophosphate (HP:0003491) help
..expandFoamy urine (HP:0031504) help
..expandHemoglobinuria (HP:0003641) help
..expandHemosiderinuria (HP:0012543) help
..expandHyperuricosuria (HP:0003149) help
..expandHyposthenuria (HP:0003158) help
..expandIncreased urinary glycerol (HP:0040301) help
..expandIncreased urinary sulfite (HP:0011942) help
..expandIncreased urinary thiosulfate (HP:0011943) help
..expandIncreased urine urobilinogen (HP:0031890) help
..expandKetonuria (HP:0002919) help
..expandLow urinary cyclic AMP response to PTH administration (HP:0003456) help
..expandMyoglobinuria (HP:0002913) help
..expandNitrituria (HP:0031812) help
..expandobsolete Abnormality of urine glucose concentration (HP:0011016) help
..expandParathormone-independent increased renal tubular calcium reabsorption (HP:0003529) help
..expandProteinuria (HP:0000093) help
..expandTrimethylaminuria (HP:0003614) help
..expandUrinary glycosaminoglycan excretion (HP:0003541) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 274
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndrome5
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiency89
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndrome56
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0OGDH CL E G H49678124ORPHA:31Oxoglutaric aciduriaHP:0040281 - Very frequent
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0SLC13A3 CL E G H6484914430OMIM:618384Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate2
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndrome271
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0012401HP:0012401Abnormal urine alpha-ketoglutarate concentration0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0012401HP:0012403Decreased urine alpha-ketoglutarate concentration1AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040282 - Frequent15
HP:0012401HP:0012402Increased urine alpha-ketoglutarate concentration1ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040281 - Very frequent74
HP:0012401HP:0012402Increased urine alpha-ketoglutarate concentration1ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040282 - Frequent5
HP:0012401HP:0012402Increased urine alpha-ketoglutarate concentration1COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012401HP:0012402Increased urine alpha-ketoglutarate concentration1DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040282 - Frequent89
HP:0012401HP:0012402Increased urine alpha-ketoglutarate concentration1GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndromeHP:0040282 - Frequent56
HP:0012401HP:0012402Increased urine alpha-ketoglutarate concentration1NFU1 CL E G H2724716287OMIM:605711Multiple mitochondrial dysfunctions syndrome 134
HP:0012401HP:0012402Increased urine alpha-ketoglutarate concentration1PIGB CL E G H94888959OMIM:618580DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0012401HP:0012402Increased urine alpha-ketoglutarate concentration1SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0012401HP:0012402Increased urine alpha-ketoglutarate concentration1SLC13A3 CL E G H6484914430OMIM:618384Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate2
HP:0012401HP:0012402Increased urine alpha-ketoglutarate concentration1TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040282 - Frequent271
HP:0012401HP:0012402Increased urine alpha-ketoglutarate concentration1TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome271
HP:0012401HP:0012402Increased urine alpha-ketoglutarate concentration1TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21


Genes (13) :AASS ALDH4A1 ATP6V1B2 COX16 DLD GLUD1 NFU1 OGDH PIGB SDHB SLC13A3 TBC1D24 TPK1

Diseases (13) :ORPHA:2203 ORPHA:79101 ORPHA:79500 OMIM:619355 ORPHA:2394 ORPHA:35878 OMIM:605711 ORPHA:31 OMIM:618580 OMIM:619224 OMIM:618384 OMIM:220500 OMIM:614458
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.