Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Acidosis (HP:0001941)help
Parent Node:
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Ketosis (HP:0001946)help
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Ketoacidosis (HP:0001993)help
Term ID: 1993
Name: Ketoacidosis
Synonym:
Definition: Acidosis resulting from accumulation of ketone bodies.
Comments:
Reference: HP:0001993
Genes and Diseases:
 
       Child Nodes:
........expandDiabetic ketoacidosis (HP:0001953) help
........expandEpisodic ketoacidosis (HP:0005974) help
........expandMetabolic ketoacidosis (HP:0005979) help

 Sister Nodes: 
..expandHyperketonemia (HP:0410175) 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:0001993HP:0001993Ketoacidosis0ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitus245
HP:0001993HP:0001993Ketoacidosis0ACAT1 CL E G H3893OMIM:203750Alpha-Methylacetoacetic aciduria91
HP:0001993HP:0001993Ketoacidosis0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040282 - Frequent91
HP:0001993HP:0001993Ketoacidosis0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemiaHP:0040283 - Occasional68
HP:0001993HP:0001993Ketoacidosis0ACSF3 CL E G H19732227288OMIM:614265Combined malonic and methylmalonic aciduria.68
HP:0001993HP:0001993Ketoacidosis0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5.
HP:0001993HP:0001993Ketoacidosis0BTD CL E G H6861122ORPHA:79241Biotinidase deficiency223
HP:0001993HP:0001993Ketoacidosis0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset223
HP:0001993HP:0001993Ketoacidosis0CA5A CL E G H7631377OMIM:615751Hyperammonemia due to carbonic anhydrase VA deficiency.10
HP:0001993HP:0001993Ketoacidosis0CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0001993HP:0001993Ketoacidosis0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0001993HP:0001993Ketoacidosis0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 6.12
HP:0001993HP:0001993Ketoacidosis0DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiency89
HP:0001993HP:0001993Ketoacidosis0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0001993HP:0001993Ketoacidosis0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency.13
HP:0001993HP:0001993Ketoacidosis0HNF1A CL E G H692711621OMIM:222100Diabetes mellitus, insulin-dependent-1.161
HP:0001993HP:0001993Ketoacidosis0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiency138
HP:0001993HP:0001993Ketoacidosis0HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitus
HP:0001993HP:0001993Ketoacidosis0IL6 CL E G H35696018OMIM:222100Diabetes mellitus, insulin-dependent-1.2
HP:0001993HP:0001993Ketoacidosis0INS CL E G H36306081OMIM:618858DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM462
HP:0001993HP:0001993Ketoacidosis0INS CL E G H36306081OMIM:613370MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY1062
HP:0001993HP:0001993Ketoacidosis0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities229
HP:0001993HP:0001993Ketoacidosis0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0001993HP:0001993Ketoacidosis0ITPR3 CL E G H37106182OMIM:222100Diabetes mellitus, insulin-dependent-1.
HP:0001993HP:0001993Ketoacidosis0IVD CL E G H37126186OMIM:243500Isovaleric acidemia.105
HP:0001993HP:0001993Ketoacidosis0KCNJ11 CL E G H37676257OMIM:618856DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2127
HP:0001993HP:0001993Ketoacidosis0KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitus127
HP:0001993HP:0001993Ketoacidosis0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0001993HP:0001993Ketoacidosis0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001993HP:0001993Ketoacidosis0MRPL3 CL E G H1122210379OMIM:614582COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD913
HP:0001993HP:0001993Ketoacidosis0OXCT1 CL E G H50198527OMIM:245050Succinyl CoA:3-oxoacid CoA transferase deficiency52
HP:0001993HP:0001993Ketoacidosis0PAX4 CL E G H50788618OMIM:612227Diabetes mellitus, ketosis-prone.55
HP:0001993HP:0001993Ketoacidosis0PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitus
HP:0001993HP:0001993Ketoacidosis0PTPN22 CL E G H261919652OMIM:222100Diabetes mellitus, insulin-dependent-1.3
HP:0001993HP:0001993Ketoacidosis0SHOX CL E G H647310853ORPHA:314795SHOX-related short stature66
HP:0001993HP:0001993Ketoacidosis0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0001993HP:0001993Ketoacidosis0SLC16A1 CL E G H656610922OMIM:616095Monocarboxylate transporter 1 deficiency.74
HP:0001993HP:0001993Ketoacidosis0SUGCT CL E G H7978316001ORPHA:35706Glutaric acidemia type 3HP:0040283 - Occasional8
HP:0001993HP:0001993Ketoacidosis0ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitus30
HP:0001993HP:0001953Diabetic ketoacidosis1ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare245
HP:0001993HP:0005974Episodic ketoacidosis1ACAT1 CL E G H3893OMIM:203750Alpha-Methylacetoacetic aciduria.91
HP:0001993HP:0005979Metabolic ketoacidosis1BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040281 - Very frequent223
HP:0001993HP:0005979Metabolic ketoacidosis1BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0001993HP:0001953Diabetic ketoacidosis1CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0001993HP:0001953Diabetic ketoacidosis1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0001993HP:0005974Episodic ketoacidosis1CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 6.12
HP:0001993HP:0005979Metabolic ketoacidosis1CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0001993HP:0005979Metabolic ketoacidosis1HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040282 - Frequent138
HP:0001993HP:0001953Diabetic ketoacidosis1HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare
HP:0001993HP:0001953Diabetic ketoacidosis1INS CL E G H36306081OMIM:618858DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM462
HP:0001993HP:0001953Diabetic ketoacidosis1INS CL E G H36306081OMIM:613370MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY1062
HP:0001993HP:0001953Diabetic ketoacidosis1INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0001993HP:0001953Diabetic ketoacidosis1INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040283 - Occasional229
HP:0001993HP:0001953Diabetic ketoacidosis1KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare127
HP:0001993HP:0005979Metabolic ketoacidosis1MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency.
HP:0001993HP:0005974Episodic ketoacidosis1OXCT1 CL E G H50198527OMIM:245050Succinyl CoA:3-oxoacid CoA transferase deficiency52
HP:0001993HP:0001953Diabetic ketoacidosis1PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare
HP:0001993HP:0005974Episodic ketoacidosis1SHOX CL E G H647310853ORPHA:314795SHOX-related short statureHP:0040281 - Very frequent66
HP:0001993HP:0001953Diabetic ketoacidosis1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0001993HP:0001953Diabetic ketoacidosis1ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare30


Genes (33) :ABCC8 ACAT1 ACSF3 ATP5F1D BTD CA5A CIDEC CLCNKB CYC1 DLD EIF2AK3 GK HNF1A HNF4A HYMAI IL6 INS INSR ITPR3 IVD KCNJ11 MCCC2 MMUT MRPL3 OXCT1 PAX4 PLAGL1 PTPN22 SHOX SLC12A3 SLC16A1 SUGCT ZFP57

Diseases (31) :ORPHA:99886 OMIM:203750 ORPHA:134 ORPHA:289504 OMIM:614265 OMIM:618120 ORPHA:79241 OMIM:253260 OMIM:615751 OMIM:615238 ORPHA:358 OMIM:615453 OMIM:246900 ORPHA:1667 OMIM:307030 OMIM:222100 ORPHA:263455 OMIM:618858 OMIM:613370 OMIM:262190 ORPHA:769 OMIM:243500 OMIM:618856 OMIM:210210 OMIM:251000 OMIM:614582 OMIM:245050 OMIM:612227 ORPHA:314795 OMIM:616095 ORPHA:35706
 

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