Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal blood glucose concentration (HP:0011015)help
Parent Node:
expand
Hypoglycemia (HP:0001943)help
..Starting node
..expand
Hypoketotic hypoglycemia (HP:0001985)help
Term ID: 1985
Name: Hypoketotic hypoglycemia
Synonym: Hypoglycemia, hypoketotic
Definition: A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.
Comments:
Reference: HP:0001985
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypoglycemic seizures (HP:0002173) help
..expandKetotic hypoglycemia (HP:0012734) help
..expandNeonatal hypoglycemia (HP:0001998) help
..expandNonketotic hypoglycemia (HP:0001958) help
..expandReactive hypoglycemia (HP:0012051) help
..expandRecurrent hypoglycemia (HP:0001988) 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:0001985HP:0001985Hypoketotic hypoglycemia0ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040281 - Very frequent245
HP:0001985HP:0001985Hypoketotic hypoglycemia0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional200
HP:0001985HP:0001985Hypoketotic hypoglycemia0AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophyHP:0040281 - Very frequent12
HP:0001985HP:0001985Hypoketotic hypoglycemia0CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency.99
HP:0001985HP:0001985Hypoketotic hypoglycemia0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040282 - Frequent101
HP:0001985HP:0001985Hypoketotic hypoglycemia0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040283 - Occasional101
HP:0001985HP:0001985Hypoketotic hypoglycemia0CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0001985HP:0001985Hypoketotic hypoglycemia0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im.55
HP:0001985HP:0001985Hypoketotic hypoglycemia0GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiencyHP:0040281 - Very frequent237
HP:0001985HP:0001985Hypoketotic hypoglycemia0HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency.41
HP:0001985HP:0001985Hypoketotic hypoglycemia0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040281 - Very frequent41
HP:0001985HP:0001985Hypoketotic hypoglycemia0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040281 - Very frequent99
HP:0001985HP:0001985Hypoketotic hypoglycemia0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0001985HP:0001985Hypoketotic hypoglycemia0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency.99
HP:0001985HP:0001985Hypoketotic hypoglycemia0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency.60
HP:0001985HP:0001985Hypoketotic hypoglycemia0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0001985HP:0001985Hypoketotic hypoglycemia0HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040282 - Frequent161
HP:0001985HP:0001985Hypoketotic hypoglycemia0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0001985HP:0001985Hypoketotic hypoglycemia0KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040281 - Very frequent127
HP:0001985HP:0001985Hypoketotic hypoglycemia0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040281 - Very frequent40
HP:0001985HP:0001985Hypoketotic hypoglycemia0UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiencyHP:0040281 - Very frequent15


Genes (15) :ABCC8 ACADVL AKT2 CPT1A CPT2 DOLK GCK HADH HADHA HADHB HNF1A HNF4A KCNJ11 SLC25A20 UCP2

Diseases (19) :ORPHA:276575 ORPHA:26793 ORPHA:293964 OMIM:255120 ORPHA:228308 ORPHA:228305 OMIM:600649 OMIM:610768 ORPHA:79299 OMIM:231530 ORPHA:71212 ORPHA:5 ORPHA:746 OMIM:609015 ORPHA:324575 ORPHA:263455 ORPHA:276580 ORPHA:159 ORPHA:276556
 

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