Human Phenotype Ontology 
Grandparent Node:
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Abnormal glucose homeostasis (HP:0011014)help
Parent Node:
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Abnormal blood glucose concentration (HP:0011015)help
..Starting node
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Hypoglycemia (HP:0001943)help
Term ID: 1943
Name: Hypoglycemia
Synonym: Hypoglycaemia; Low blood sugar
Definition: A decreased concentration of glucose in the blood.
Comments:
Reference: HP:0001943
Genes and Diseases:
 
       Child Nodes:
........expandNonketotic hypoglycemia (HP:0001958) help
........expandHypoketotic hypoglycemia (HP:0001985) help
........expandRecurrent hypoglycemia (HP:0001988) help
................... HP:0004914 Recurrent infantile hypoglycemia
........expandNeonatal hypoglycemia (HP:0001998) help
........expandHypoglycemic seizures (HP:0002173) help
........expandReactive hypoglycemia (HP:0012051) help
........expandKetotic hypoglycemia (HP:0012734) help

 Sister Nodes: 
..expandHyperglycemia (HP:0003074) 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:0001943HP:0001943Hypoglycemia0ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0001943HP:0001943Hypoglycemia0ABCC8 CL E G H683359OMIM:256450Hyperinsulinemic hypoglycemia, familial, 1245
HP:0001943HP:0001943Hypoglycemia0ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive.245
HP:0001943HP:0001943Hypoglycemia0ABCC8 CL E G H683359ORPHA:552MODY245
HP:0001943HP:0001943Hypoglycemia0ACAD8 CL E G H2703487ORPHA:79159Isobutyryl-CoA dehydrogenase deficiency58
HP:0001943HP:0001943Hypoglycemia0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0001943HP:0001943Hypoglycemia0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency.98
HP:0001943HP:0001943Hypoglycemia0ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of.197
HP:0001943HP:0001943Hypoglycemia0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional197
HP:0001943HP:0001943Hypoglycemia0ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiency90
HP:0001943HP:0001943Hypoglycemia0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency.111
HP:0001943HP:0001943Hypoglycemia0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency200
HP:0001943HP:0001943Hypoglycemia0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0001943HP:0001943Hypoglycemia0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040283 - Occasional91
HP:0001943HP:0001943Hypoglycemia0ACSF3 CL E G H19732227288ORPHA:289504Combined malonic and methylmalonic acidemiaHP:0040283 - Occasional68
HP:0001943HP:0001943Hypoglycemia0AGL CL E G H178321ORPHA:366Glycogen storage disease due to glycogen debranching enzyme deficiencyHP:0040281 - Very frequent216
HP:0001943HP:0001943Hypoglycemia0AGL CL E G H178321OMIM:232400Glycogen storage disease III.216
HP:0001943HP:0001943Hypoglycemia0AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophy12
HP:0001943HP:0001943Hypoglycemia0AKT2 CL E G H208392OMIM:240900Hypoinsulinemic hypoglycemia with hemihypertrophy12
HP:0001943HP:0001943Hypoglycemia0ALDH7A1 CL E G H501877ORPHA:3006Pyridoxine-dependent epilepsyHP:0040284 - Very rare227
HP:0001943HP:0001943Hypoglycemia0ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary.73
HP:0001943HP:0001943Hypoglycemia0ALDOB CL E G H229417ORPHA:469Hereditary fructose intolerance73
HP:0001943HP:0001943Hypoglycemia0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0001943HP:0001943Hypoglycemia0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0001943HP:0001943Hypoglycemia0APPL1 CL E G H2606024035ORPHA:552MODY2
HP:0001943HP:0001943Hypoglycemia0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndromeHP:0040283 - Occasional7
HP:0001943HP:0001943Hypoglycemia0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5.
HP:0001943HP:0001943Hypoglycemia0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040283 - Occasional192
HP:0001943HP:0001943Hypoglycemia0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 1HP:0040283 - Occasional49
HP:0001943HP:0001943Hypoglycemia0BCKDHA CL E G H593986OMIM:248600Maple syrup urine disease.120
HP:0001943HP:0001943Hypoglycemia0BCKDHB CL E G H594987OMIM:248600Maple syrup urine disease.162
HP:0001943HP:0001943Hypoglycemia0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0001943HP:0001943Hypoglycemia0BLK CL E G H6401057ORPHA:552MODY75
HP:0001943HP:0001943Hypoglycemia0CA5A CL E G H7631377OMIM:615751Hyperammonemia due to carbonic anhydrase VA deficiency.10
HP:0001943HP:0001943Hypoglycemia0CACNA1C CL E G H7751390OMIM:601005Timothy syndromeHP:0040283 - Occasional572
HP:0001943HP:0001943Hypoglycemia0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040283 - Occasional1
HP:0001943HP:0001943Hypoglycemia0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome114
HP:0001943HP:0001943Hypoglycemia0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0001943HP:0001943Hypoglycemia0CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndromeHP:0040282 - Frequent200
HP:0001943HP:0001943Hypoglycemia0CEL CL E G H10561848ORPHA:552MODY25
HP:0001943HP:0001943Hypoglycemia0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0001943HP:0001943Hypoglycemia0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 738
HP:0001943HP:0001943Hypoglycemia0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001943HP:0001943Hypoglycemia0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0001943HP:0001943Hypoglycemia0COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040283 - Occasional39
HP:0001943HP:0001943Hypoglycemia0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0001943HP:0001943Hypoglycemia0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001943HP:0001943Hypoglycemia0CPT1A CL E G H13742328ORPHA:156Carnitine palmitoyl transferase 1A deficiencyHP:0040281 - Very frequent99
HP:0001943HP:0001943Hypoglycemia0CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency99
HP:0001943HP:0001943Hypoglycemia0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0001943HP:0001943Hypoglycemia0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form101
HP:0001943HP:0001943Hypoglycemia0CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0001943HP:0001943Hypoglycemia0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0001943HP:0001943Hypoglycemia0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040282 - Frequent17
HP:0001943HP:0001943Hypoglycemia0CYB561 CL E G H15342571OMIM:618182Orthostatic hypotension 2.
HP:0001943HP:0001943Hypoglycemia0CYC1 CL E G H15372579OMIM:615453Mitochondrial complex III deficiency, nuclear type 612
HP:0001943HP:0001943Hypoglycemia0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0001943HP:0001943Hypoglycemia0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0001943HP:0001943Hypoglycemia0CYP21A2 CL E G H15892600OMIM:201910Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency.86
HP:0001943HP:0001943Hypoglycemia0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040284 - Very rare
HP:0001943HP:0001943Hypoglycemia0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiencyHP:0040282 - Frequent80
HP:0001943HP:0001943Hypoglycemia0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0001943HP:0001943Hypoglycemia0DBT CL E G H16292698OMIM:248600Maple syrup urine disease.156
HP:0001943HP:0001943Hypoglycemia0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0001943HP:0001943Hypoglycemia0DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiency.89
HP:0001943HP:0001943Hypoglycemia0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040282 - Frequent89
HP:0001943HP:0001943Hypoglycemia0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0001943HP:0001943Hypoglycemia0DMXL2 CL E G H233122938OMIM:616113Polyendocrine-Polyneuropathy syndrome.3
HP:0001943HP:0001943Hypoglycemia0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0001943HP:0001943Hypoglycemia0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im55
HP:0001943HP:0001943Hypoglycemia0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0001943HP:0001943Hypoglycemia0EHHADH CL E G H19623247ORPHA:3337Primary Fanconi renotubular syndromeHP:0040284 - Very rare2
HP:0001943HP:0001943Hypoglycemia0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0001943HP:0001943Hypoglycemia0ETFA CL E G H21083481OMIM:231680Multiple acyl-coa dehydrogenase deficiency.37
HP:0001943HP:0001943Hypoglycemia0ETFB CL E G H21093482OMIM:231680Multiple acyl-coa dehydrogenase deficiency.27
HP:0001943HP:0001943Hypoglycemia0ETFDH CL E G H21103483OMIM:231680Multiple acyl-coa dehydrogenase deficiency.77
HP:0001943HP:0001943Hypoglycemia0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0001943HP:0001943Hypoglycemia0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0001943HP:0001943Hypoglycemia0FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency.64
HP:0001943HP:0001943Hypoglycemia0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040281 - Very frequent64
HP:0001943HP:0001943Hypoglycemia0FGF20 CL E G H262813677ORPHA:1848Renal agenesis, bilateral2
HP:0001943HP:0001943Hypoglycemia0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent
HP:0001943HP:0001943Hypoglycemia0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0001943HP:0001943Hypoglycemia0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19.61
HP:0001943HP:0001943Hypoglycemia0FUT8 CL E G H25304019OMIM:618005Congenital disorder of glycosylation with defective fucosylation 1HP:0040284 - Very rare3
HP:0001943HP:0001943Hypoglycemia0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0001943HP:0001943Hypoglycemia0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040284 - Very rare23
HP:0001943HP:0001943Hypoglycemia0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040283 - Occasional351
HP:0001943HP:0001943Hypoglycemia0GATB CL E G H51888849OMIM:618838COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001943HP:0001943Hypoglycemia0GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0001943HP:0001943Hypoglycemia0GATM CL E G H26284175ORPHA:3337Primary Fanconi renotubular syndromeHP:0040284 - Very rare86
HP:0001943HP:0001943Hypoglycemia0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I.115
HP:0001943HP:0001943Hypoglycemia0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiency115
HP:0001943HP:0001943Hypoglycemia0GCK CL E G H26454195OMIM:602485Hyperinsulinemic hypoglycemia, familial, 3237
HP:0001943HP:0001943Hypoglycemia0GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiency237
HP:0001943HP:0001943Hypoglycemia0GCK CL E G H26454195ORPHA:552MODY237
HP:0001943HP:0001943Hypoglycemia0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0001943HP:0001943Hypoglycemia0GFRA1 CL E G H26744243ORPHA:1848Renal agenesis, bilateral1
HP:0001943HP:0001943Hypoglycemia0GH1 CL E G H26884261OMIM:262400Growth hormone deficiency, isolated, type IA.50
HP:0001943HP:0001943Hypoglycemia0GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040282 - Frequent98
HP:0001943HP:0001943Hypoglycemia0GHR CL E G H26904263ORPHA:314802Short stature due to partial GHR deficiencyHP:0040283 - Occasional98
HP:0001943HP:0001943Hypoglycemia0GHSR CL E G H26934267ORPHA:314811Short stature due to GHSR deficiencyHP:0040281 - Very frequent37
HP:0001943HP:0001943Hypoglycemia0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0001943HP:0001943Hypoglycemia0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency.13
HP:0001943HP:0001943Hypoglycemia0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent173
HP:0001943HP:0001943Hypoglycemia0GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 656
HP:0001943HP:0001943Hypoglycemia0GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndrome56
HP:0001943HP:0001943Hypoglycemia0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0001943HP:0001943Hypoglycemia0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0001943HP:0001943Hypoglycemia0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0001943HP:0001943Hypoglycemia0GPR161 CL E G H2343223694ORPHA:95496Pituitary stalk interruption syndromeHP:0040282 - Frequent2
HP:0001943HP:0001943Hypoglycemia0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0001943HP:0001943Hypoglycemia0GREB1L CL E G H8000031042ORPHA:1848Renal agenesis, bilateral
HP:0001943HP:0001943Hypoglycemia0GYS2 CL E G H29984707OMIM:240600Glycogen storage disease 0, liver100
HP:0001943HP:0001943Hypoglycemia0GYS2 CL E G H29984707ORPHA:2089Glycogen storage disease due to hepatic glycogen synthase deficiency100
HP:0001943HP:0001943Hypoglycemia0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional4
HP:0001943HP:0001943Hypoglycemia0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome
HP:0001943HP:0001943Hypoglycemia0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0001943HP:0001943Hypoglycemia0HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency41
HP:0001943HP:0001943Hypoglycemia0HADH CL E G H30334799OMIM:609975Hyperinsulinemic hypoglycemia, familial, 441
HP:0001943HP:0001943Hypoglycemia0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0001943HP:0001943Hypoglycemia0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040281 - Very frequent99
HP:0001943HP:0001943Hypoglycemia0HADHA CL E G H30304801OMIM:609016Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency.HP:0003593 - Infantile onset99
HP:0001943HP:0001943Hypoglycemia0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency99
HP:0001943HP:0001943Hypoglycemia0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0001943HP:0001943Hypoglycemia0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0001943HP:0001943Hypoglycemia0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency60
HP:0001943HP:0001943Hypoglycemia0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0001943HP:0001943Hypoglycemia0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent21
HP:0001943HP:0001943Hypoglycemia0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0001943HP:0001943Hypoglycemia0HESX1 CL E G H88204877ORPHA:95496Pituitary stalk interruption syndromeHP:0040282 - Frequent21
HP:0001943HP:0001943Hypoglycemia0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional2
HP:0001943HP:0001943Hypoglycemia0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0001943HP:0001943Hypoglycemia0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0001943HP:0001943Hypoglycemia0HMGCS2 CL E G H31585008ORPHA:357013-hydroxy-3-methylglutaryl-CoA synthase deficiencyHP:0040281 - Very frequent42
HP:0001943HP:0001943Hypoglycemia0HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiency161
HP:0001943HP:0001943Hypoglycemia0HNF1A CL E G H692711621ORPHA:552MODY161
HP:0001943HP:0001943Hypoglycemia0HNF4A CL E G H31725024OMIM:616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young.HP:0003623 - Neonatal onset138
HP:0001943HP:0001943Hypoglycemia0HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiency138
HP:0001943HP:0001943Hypoglycemia0HNF4A CL E G H31725024ORPHA:552MODY138
HP:0001943HP:0001943Hypoglycemia0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0001943HP:0001943Hypoglycemia0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040282 - Frequent19
HP:0001943HP:0001943Hypoglycemia0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0001943HP:0001943Hypoglycemia0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency34
HP:0001943HP:0001943Hypoglycemia0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0001943HP:0001943Hypoglycemia0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia
HP:0001943HP:0001943Hypoglycemia0IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome25
HP:0001943HP:0001943Hypoglycemia0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0001943HP:0001943Hypoglycemia0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0001943HP:0001943Hypoglycemia0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome9
HP:0001943HP:0001943Hypoglycemia0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0001943HP:0001943Hypoglycemia0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional9
HP:0001943HP:0001943Hypoglycemia0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional9
HP:0001943HP:0001943Hypoglycemia0INS CL E G H36306081ORPHA:552MODY62
HP:0001943HP:0001943Hypoglycemia0INSR CL E G H36436091OMIM:246200Donohue syndrome229
HP:0001943HP:0001943Hypoglycemia0INSR CL E G H36436091OMIM:609968Hyperinsulinemic hypoglycemia, familial, 5229
HP:0001943HP:0001943Hypoglycemia0INSR CL E G H36436091ORPHA:263458Hyperinsulinism due to INSR deficiencyHP:0040281 - Very frequent229
HP:0001943HP:0001943Hypoglycemia0INSR CL E G H36436091ORPHA:508Leprechaunism229
HP:0001943HP:0001943Hypoglycemia0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0001943HP:0001943Hypoglycemia0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0001943HP:0001943Hypoglycemia0ITGA8 CL E G H85166144ORPHA:1848Renal agenesis, bilateral4
HP:0001943HP:0001943Hypoglycemia0KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiency127
HP:0001943HP:0001943Hypoglycemia0KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0001943HP:0001943Hypoglycemia0KCNJ11 CL E G H37676257OMIM:601820Hyperinsulinemic hypoglycemia, familial, 2.127
HP:0001943HP:0001943Hypoglycemia0KCNJ11 CL E G H37676257ORPHA:552MODY127
HP:0001943HP:0001943Hypoglycemia0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome730
HP:0001943HP:0001943Hypoglycemia0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome1
HP:0001943HP:0001943Hypoglycemia0KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0001943HP:0001943Hypoglycemia0KLF11 CL E G H846211811ORPHA:552MODY78
HP:0001943HP:0001943Hypoglycemia0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0001943HP:0001943Hypoglycemia0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent43
HP:0001943HP:0001943Hypoglycemia0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0001943HP:0001943Hypoglycemia0LHX4 CL E G H8988421734OMIM:262700Pituitary hormone deficiency, combined, 4.43
HP:0001943HP:0001943Hypoglycemia0LHX4 CL E G H8988421734ORPHA:95496Pituitary stalk interruption syndromeHP:0040282 - Frequent43
HP:0001943HP:0001943Hypoglycemia0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0001943HP:0001943Hypoglycemia0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0001943HP:0001943Hypoglycemia0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiency94
HP:0001943HP:0001943Hypoglycemia0MC2R CL E G H41586930OMIM:202200Glucocorticoid deficiency 194
HP:0001943HP:0001943Hypoglycemia0MCCC1 CL E G H569226936OMIM:2102003-Methylcrotonyl-CoA carboxylase 1 deficiency.81
HP:0001943HP:0001943Hypoglycemia0MCCC1 CL E G H569226936ORPHA:63-methylcrotonyl-CoA carboxylase deficiencyHP:0040281 - Very frequent81
HP:0001943HP:0001943Hypoglycemia0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency.77
HP:0001943HP:0001943Hypoglycemia0MCCC2 CL E G H640876937ORPHA:63-methylcrotonyl-CoA carboxylase deficiencyHP:0040281 - Very frequent77
HP:0001943HP:0001943Hypoglycemia0MEN1 CL E G H42217010ORPHA:97279Insulinoma462
HP:0001943HP:0001943Hypoglycemia0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0001943HP:0001943Hypoglycemia0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001943HP:0001943Hypoglycemia0MLYCD CL E G H234177150OMIM:248360Malonyl-CoA decarboxylase deficiency.80
HP:0001943HP:0001943Hypoglycemia0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040283 - Occasional101
HP:0001943HP:0001943Hypoglycemia0MMUT CL E G H45947526OMIM:251000Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001943HP:0001943Hypoglycemia0MPC1 CL E G H5166021606OMIM:614741Mitochondrial pyruvate carrier deficiency.6
HP:0001943HP:0001943Hypoglycemia0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0001943HP:0001943Hypoglycemia0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiency26
HP:0001943HP:0001943Hypoglycemia0MRAP CL E G H562461304OMIM:607398Glucocorticoid deficiency 226
HP:0001943HP:0001943Hypoglycemia0MRPS2 CL E G H5111614495OMIM:617950Combined oxidative phosphorylation deficiency 36.
HP:0001943HP:0001943Hypoglycemia0MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0001943HP:0001943Hypoglycemia0MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 34.12
HP:0001943HP:0001943Hypoglycemia0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001943HP:0001943Hypoglycemia0MTO1 CL E G H2582119261OMIM:614702Combined oxidative phosphorylation deficiency 10.39
HP:0001943HP:0001943Hypoglycemia0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome68
HP:0001943HP:0001943Hypoglycemia0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0001943HP:0001943Hypoglycemia0NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare
HP:0001943HP:0001943Hypoglycemia0NBAS CL E G H5159415625OMIM:616483INFANTILE LIVER FAILURE SYNDROME 2; ILFS225
HP:0001943HP:0001943Hypoglycemia0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001943HP:0001943Hypoglycemia0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001943HP:0001943Hypoglycemia0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001943HP:0001943Hypoglycemia0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent7
HP:0001943HP:0001943Hypoglycemia0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent32
HP:0001943HP:0001943Hypoglycemia0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0001943HP:0001943Hypoglycemia0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 33.1
HP:0001943HP:0001943Hypoglycemia0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent40
HP:0001943HP:0001943Hypoglycemia0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent26
HP:0001943HP:0001943Hypoglycemia0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent31
HP:0001943HP:0001943Hypoglycemia0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent50
HP:0001943HP:0001943Hypoglycemia0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent34
HP:0001943HP:0001943Hypoglycemia0NDUFAF6 CL E G H13768228625ORPHA:3337Primary Fanconi renotubular syndromeHP:0040284 - Very rare39
HP:0001943HP:0001943Hypoglycemia0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001943HP:0001943Hypoglycemia0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0001943HP:0001943Hypoglycemia0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent3
HP:0001943HP:0001943Hypoglycemia0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent9
HP:0001943HP:0001943Hypoglycemia0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent16
HP:0001943HP:0001943Hypoglycemia0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent81
HP:0001943HP:0001943Hypoglycemia0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent65
HP:0001943HP:0001943Hypoglycemia0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent22
HP:0001943HP:0001943Hypoglycemia0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0001943HP:0001943Hypoglycemia0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0001943HP:0001943Hypoglycemia0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent21
HP:0001943HP:0001943Hypoglycemia0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent38
HP:0001943HP:0001943Hypoglycemia0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent42
HP:0001943HP:0001943Hypoglycemia0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent74
HP:0001943HP:0001943Hypoglycemia0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0001943HP:0001943Hypoglycemia0NEUROD1 CL E G H47607762ORPHA:552MODY32
HP:0001943HP:0001943Hypoglycemia0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0001943HP:0001943Hypoglycemia0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0001943HP:0001943Hypoglycemia0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0001943HP:0001943Hypoglycemia0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiency13
HP:0001943HP:0001943Hypoglycemia0NNT CL E G H235307863OMIM:614736Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency.13
HP:0001943HP:0001943Hypoglycemia0NR1H4 CL E G H99717967OMIM:617049CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC514
HP:0001943HP:0001943Hypoglycemia0NR3C1 CL E G H29087978ORPHA:786Generalized glucocorticoid resistance syndromeHP:0040283 - Occasional79
HP:0001943HP:0001943Hypoglycemia0NR3C1 CL E G H29087978OMIM:615962Glucocorticoid resistance, generalized.79
HP:0001943HP:0001943Hypoglycemia0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0001943HP:0001943Hypoglycemia0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0001943HP:0001943Hypoglycemia0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent89
HP:0001943HP:0001943Hypoglycemia0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0001943HP:0001943Hypoglycemia0OTC CL E G H50098512ORPHA:664Ornithine transcarbamylase deficiencyHP:0040281 - Very frequent369
HP:0001943HP:0001943Hypoglycemia0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent41
HP:0001943HP:0001943Hypoglycemia0OTX2 CL E G H50158522OMIM:613986Pituitary hormone deficiency, combined, 641
HP:0001943HP:0001943Hypoglycemia0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0001943HP:0001943Hypoglycemia0PAX4 CL E G H50788618ORPHA:552MODY55
HP:0001943HP:0001943Hypoglycemia0PC CL E G H50918636OMIM:266150Pyruvate carboxylase deficiency.118
HP:0001943HP:0001943Hypoglycemia0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0001943HP:0001943Hypoglycemia0PCCA CL E G H50958653ORPHA:35Propionic acidemiaHP:0040281 - Very frequent96
HP:0001943HP:0001943Hypoglycemia0PCCB CL E G H50968654ORPHA:35Propionic acidemiaHP:0040281 - Very frequent92
HP:0001943HP:0001943Hypoglycemia0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0001943HP:0001943Hypoglycemia0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0001943HP:0001943Hypoglycemia0PCK2 CL E G H51068725OMIM:261650Phosphoenolpyruvate carboxykinase 2, mitochondrial.6
HP:0001943HP:0001943Hypoglycemia0PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiency65
HP:0001943HP:0001943Hypoglycemia0PCSK1 CL E G H51228743OMIM:600955Proprotein convertase 1/3 deficiency65
HP:0001943HP:0001943Hypoglycemia0PDX1 CL E G H36516107ORPHA:552MODY30
HP:0001943HP:0001943Hypoglycemia0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0001943HP:0001943Hypoglycemia0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0001943HP:0001943Hypoglycemia0PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0001943HP:0001943Hypoglycemia0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040282 - Frequent54
HP:0001943HP:0001943Hypoglycemia0PHKA2 CL E G H52568926OMIM:306000Glycogen storage disease ixaHP:0040282 - Frequent54
HP:0001943HP:0001943Hypoglycemia0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0001943HP:0001943Hypoglycemia0PHKB CL E G H52578927OMIM:261750Glycogen storage disease ixb101
HP:0001943HP:0001943Hypoglycemia0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040282 - Frequent48
HP:0001943HP:0001943Hypoglycemia0PHKG2 CL E G H52618931OMIM:613027Glycogen storage disease IXc48
HP:0001943HP:0001943Hypoglycemia0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional3
HP:0001943HP:0001943Hypoglycemia0PLPBP CL E G H112129457ORPHA:3006Pyridoxine-dependent epilepsyHP:0040284 - Very rare6
HP:0001943HP:0001943Hypoglycemia0PNPO CL E G H5516330260ORPHA:79096Pyridoxal phosphate-responsive seizuresHP:0040282 - Frequent92
HP:0001943HP:0001943Hypoglycemia0PNPO CL E G H5516330260OMIM:610090Pyridoxamine 5-prime-phosphate oxidase deficiency.92
HP:0001943HP:0001943Hypoglycemia0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0001943HP:0001943Hypoglycemia0POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiency27
HP:0001943HP:0001943Hypoglycemia0POMC CL E G H54439201OMIM:609734Obesity, early-onset, with adrenal insufficiency and red hair27
HP:0001943HP:0001943Hypoglycemia0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent36
HP:0001943HP:0001943Hypoglycemia0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0001943HP:0001943Hypoglycemia0PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndromeHP:0040283 - Occasional
HP:0001943HP:0001943Hypoglycemia0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0001943HP:0001943Hypoglycemia0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040282 - Frequent2
HP:0001943HP:0001943Hypoglycemia0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0001943HP:0001943Hypoglycemia0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0001943HP:0001943Hypoglycemia0PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndromeHP:0040283 - Occasional7
HP:0001943HP:0001943Hypoglycemia0PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital235
HP:0001943HP:0001943Hypoglycemia0PROKR2 CL E G H12867415836ORPHA:95496Pituitary stalk interruption syndromeHP:0040282 - Frequent34
HP:0001943HP:0001943Hypoglycemia0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent54
HP:0001943HP:0001943Hypoglycemia0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0001943HP:0001943Hypoglycemia0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent54
HP:0001943HP:0001943Hypoglycemia0PROP1 CL E G H56269455OMIM:262600Pituitary hormone deficiency, combined, 254
HP:0001943HP:0001943Hypoglycemia0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0001943HP:0001943Hypoglycemia0PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesis.22
HP:0001943HP:0001943Hypoglycemia0PYGL CL E G H58369725ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase deficiencyHP:0040282 - Frequent71
HP:0001943HP:0001943Hypoglycemia0PYGL CL E G H58369725OMIM:232700Glycogen storage disease VI71
HP:0001943HP:0001943Hypoglycemia0QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001943HP:0001943Hypoglycemia0RET CL E G H59799967ORPHA:1848Renal agenesis, bilateral572
HP:0001943HP:0001943Hypoglycemia0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0001943HP:0001943Hypoglycemia0ROBO1 CL E G H609110249ORPHA:95496Pituitary stalk interruption syndromeHP:0040282 - Frequent7
HP:0001943HP:0001943Hypoglycemia0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0001943HP:0001943Hypoglycemia0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0001943HP:0001943Hypoglycemia0SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0001943HP:0001943Hypoglycemia0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0001943HP:0001943Hypoglycemia0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0001943HP:0001943Hypoglycemia0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0001943HP:0001943Hypoglycemia0SLC16A1 CL E G H656610922OMIM:610021HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF774
HP:0001943HP:0001943Hypoglycemia0SLC16A1 CL E G H656610922OMIM:616095Monocarboxylate transporter 1 deficiency74
HP:0001943HP:0001943Hypoglycemia0SLC1A1 CL E G H650510939OMIM:222730Dicarboxylicamino aciduria71
HP:0001943HP:0001943Hypoglycemia0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207
HP:0001943HP:0001943Hypoglycemia0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency.40
HP:0001943HP:0001943Hypoglycemia0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiency40
HP:0001943HP:0001943Hypoglycemia0SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndrome71
HP:0001943HP:0001943Hypoglycemia0SLC34A1 CL E G H656911019ORPHA:3337Primary Fanconi renotubular syndromeHP:0040284 - Very rare47
HP:0001943HP:0001943Hypoglycemia0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040281 - Very frequent110
HP:0001943HP:0001943Hypoglycemia0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0001943HP:0001943Hypoglycemia0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic.110
HP:0001943HP:0001943Hypoglycemia0SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndromeHP:0040283 - Occasional55
HP:0001943HP:0001943Hypoglycemia0SLC52A1 CL E G H5506530225OMIM:615026Riboflavin deficiency.3
HP:0001943HP:0001943Hypoglycemia0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent24
HP:0001943HP:0001943Hypoglycemia0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiency45
HP:0001943HP:0001943Hypoglycemia0STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare1
HP:0001943HP:0001943Hypoglycemia0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0001943HP:0001943Hypoglycemia0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)60
HP:0001943HP:0001943Hypoglycemia0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0001943HP:0001943Hypoglycemia0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0001943HP:0001943Hypoglycemia0TBX19 CL E G H909511596OMIM:201400Acth deficiency, isolated57
HP:0001943HP:0001943Hypoglycemia0TBX19 CL E G H909511596ORPHA:199296Congenital isolated ACTH deficiency57
HP:0001943HP:0001943Hypoglycemia0TFAM CL E G H701911741OMIM:617156Mitochondrial DNA depletion syndrome 15 (hepatocerebral type).1
HP:0001943HP:0001943Hypoglycemia0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001943HP:0001943Hypoglycemia0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0001943HP:0001943Hypoglycemia0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent4
HP:0001943HP:0001943Hypoglycemia0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040282 - Frequent7
HP:0001943HP:0001943Hypoglycemia0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiency85
HP:0001943HP:0001943Hypoglycemia0UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiency15
HP:0001943HP:0001943Hypoglycemia0UQCC3 CL E G H79095534399OMIM:616111Mitochondrial complex III deficiency, nuclear type 9.6
HP:0001943HP:0001943Hypoglycemia0UQCRB CL E G H738112582OMIM:615158Mitochondrial complex III deficiency, nuclear type 3.13
HP:0001943HP:0001943Hypoglycemia0UQCRC2 CL E G H738512586OMIM:615160Mitochondrial complex III deficiency, nuclear type 517
HP:0001943HP:0001943Hypoglycemia0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0001943HP:0001943Hypoglycemia0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defect2
HP:0001943HP:0001943Hypoglycemia0WDR11 CL E G H5571713831ORPHA:95496Pituitary stalk interruption syndromeHP:0040282 - Frequent10
HP:0001943HP:0001943Hypoglycemia0WNT9B CL E G H748412779ORPHA:1848Renal agenesis, bilateral
HP:0001943HP:0001943Hypoglycemia0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001943HP:0001943Hypoglycemia0YY1 CL E G H752812856ORPHA:97279Insulinoma7
HP:0001943HP:0003162Fasting hypoglycemia1ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040281 - Very frequent245
HP:0001943HP:0001985Hypoketotic hypoglycemia1ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040281 - Very frequent245
HP:0001943HP:0002173Hypoglycemic seizures1ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040282 - Frequent245
HP:0001943HP:0002173Hypoglycemic seizures1ABCC8 CL E G H683359OMIM:256450Hyperinsulinemic hypoglycemia, familial, 1.245
HP:0001943HP:0001998Neonatal hypoglycemia1ABCC8 CL E G H683359ORPHA:552MODYHP:0040283 - Occasional245
HP:0001943HP:0012734Ketotic hypoglycemia1ACAD8 CL E G H2703487ORPHA:79159Isobutyryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional58
HP:0001943HP:0001958Nonketotic hypoglycemia1ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040283 - Occasional98
HP:0001943HP:0012734Ketotic hypoglycemia1ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional90
HP:0001943HP:0001985Hypoketotic hypoglycemia1ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional200
HP:0001943HP:0001958Nonketotic hypoglycemia1ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0001943HP:0001985Hypoketotic hypoglycemia1AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophyHP:0040281 - Very frequent12
HP:0001943HP:0001998Neonatal hypoglycemia1AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophyHP:0040281 - Very frequent12
HP:0001943HP:0001958Nonketotic hypoglycemia1AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophyHP:0040281 - Very frequent12
HP:0001943HP:0002173Hypoglycemic seizures1AKT2 CL E G H208392ORPHA:293964Hypoinsulinemic hypoglycemia and body hemihypertrophyHP:0040281 - Very frequent12
HP:0001943HP:0001998Neonatal hypoglycemia1AKT2 CL E G H208392OMIM:240900Hypoinsulinemic hypoglycemia with hemihypertrophy.12
HP:0001943HP:0012051Reactive hypoglycemia1ALDOB CL E G H229417ORPHA:469Hereditary fructose intoleranceHP:0040283 - Occasional73
HP:0001943HP:0001988Recurrent hypoglycemia1ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0001943HP:0001998Neonatal hypoglycemia1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0001943HP:0001998Neonatal hypoglycemia1APPL1 CL E G H2606024035ORPHA:552MODYHP:0040283 - Occasional2
HP:0001943HP:0001988Recurrent hypoglycemia1BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0001943HP:0001998Neonatal hypoglycemia1BLK CL E G H6401057ORPHA:552MODYHP:0040283 - Occasional75
HP:0001943HP:0001998Neonatal hypoglycemia1CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0001943HP:0001998Neonatal hypoglycemia1CEL CL E G H10561848ORPHA:552MODYHP:0040283 - Occasional25
HP:0001943HP:0001998Neonatal hypoglycemia1CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0001943HP:0001998Neonatal hypoglycemia1CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040283 - Occasional38
HP:0001943HP:0001998Neonatal hypoglycemia1CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001943HP:0001998Neonatal hypoglycemia1COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0001943HP:0001985Hypoketotic hypoglycemia1CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency.99
HP:0001943HP:0001985Hypoketotic hypoglycemia1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040282 - Frequent101
HP:0001943HP:0001985Hypoketotic hypoglycemia1CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040283 - Occasional101
HP:0001943HP:0001985Hypoketotic hypoglycemia1CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0001943HP:0001958Nonketotic hypoglycemia1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0001943HP:0001998Neonatal hypoglycemia1CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0001943HP:0001998Neonatal hypoglycemia1CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0001943HP:0001998Neonatal hypoglycemia1DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital.80
HP:0001943HP:0001998Neonatal hypoglycemia1DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040283 - Occasional25
HP:0001943HP:0001985Hypoketotic hypoglycemia1DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im.55
HP:0001943HP:0001998Neonatal hypoglycemia1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0001943HP:0003162Fasting hypoglycemia1FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040282 - Frequent64
HP:0001943HP:0001998Neonatal hypoglycemia1FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiencyHP:0040283 - Occasional64
HP:0001943HP:0001958Nonketotic hypoglycemia1FGF20 CL E G H262813677ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent2
HP:0001943HP:0003162Fasting hypoglycemia1G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia
HP:0001943HP:0003162Fasting hypoglycemia1GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional115
HP:0001943HP:0002173Hypoglycemic seizures1GCK CL E G H26454195OMIM:602485Hyperinsulinemic hypoglycemia, familial, 3.237
HP:0001943HP:0001988Recurrent hypoglycemia1GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiencyHP:0040281 - Very frequent237
HP:0001943HP:0001985Hypoketotic hypoglycemia1GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiencyHP:0040281 - Very frequent237
HP:0001943HP:0001998Neonatal hypoglycemia1GCK CL E G H26454195ORPHA:552MODYHP:0040283 - Occasional237
HP:0001943HP:0001998Neonatal hypoglycemia1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0001943HP:0001958Nonketotic hypoglycemia1GFRA1 CL E G H26744243ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent1
HP:0001943HP:0002173Hypoglycemic seizures1GLUD1 CL E G H27464335OMIM:606762Hyperinsulinemic hypoglycemia, familial, 6.56
HP:0001943HP:0012051Reactive hypoglycemia1GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndromeHP:0040281 - Very frequent56
HP:0001943HP:0003162Fasting hypoglycemia1GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040282 - Frequent
HP:0001943HP:0001958Nonketotic hypoglycemia1GREB1L CL E G H8000031042ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent
HP:0001943HP:0001998Neonatal hypoglycemia1GYS2 CL E G H29984707OMIM:240600Glycogen storage disease 0, liver.100
HP:0001943HP:0003162Fasting hypoglycemia1GYS2 CL E G H29984707OMIM:240600Glycogen storage disease 0, liver.100
HP:0001943HP:0012734Ketotic hypoglycemia1GYS2 CL E G H29984707ORPHA:2089Glycogen storage disease due to hepatic glycogen synthase deficiencyHP:0040282 - Frequent100
HP:0001943HP:0001998Neonatal hypoglycemia1H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional4
HP:0001943HP:0001998Neonatal hypoglycemia1H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0001943HP:0003162Fasting hypoglycemia1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome.
HP:0001943HP:0001985Hypoketotic hypoglycemia1HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency.41
HP:0001943HP:0002173Hypoglycemic seizures1HADH CL E G H30334799OMIM:2315303-Hydroxyacyl-Coa dehydrogenase deficiency.41
HP:0001943HP:0002173Hypoglycemic seizures1HADH CL E G H30334799OMIM:609975Hyperinsulinemic hypoglycemia, familial, 4.41
HP:0001943HP:0001985Hypoketotic hypoglycemia1HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040281 - Very frequent41
HP:0001943HP:0002173Hypoglycemic seizures1HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040281 - Very frequent41
HP:0001943HP:0001998Neonatal hypoglycemia1HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040281 - Very frequent41
HP:0001943HP:0001985Hypoketotic hypoglycemia1HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040281 - Very frequent99
HP:0001943HP:0001985Hypoketotic hypoglycemia1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0001943HP:0001985Hypoketotic hypoglycemia1HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency.99
HP:0001943HP:0001985Hypoketotic hypoglycemia1HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency.60
HP:0001943HP:0001985Hypoketotic hypoglycemia1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0001943HP:0001998Neonatal hypoglycemia1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040283 - Occasional16
HP:0001943HP:0001958Nonketotic hypoglycemia1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040281 - Very frequent35
HP:0001943HP:0001988Recurrent hypoglycemia1HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040282 - Frequent35
HP:0001943HP:0003162Fasting hypoglycemia1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040282 - Frequent161
HP:0001943HP:0001985Hypoketotic hypoglycemia1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040282 - Frequent161
HP:0001943HP:0012051Reactive hypoglycemia1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040282 - Frequent161
HP:0001943HP:0002173Hypoglycemic seizures1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040282 - Frequent161
HP:0001943HP:0001998Neonatal hypoglycemia1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040281 - Very frequent161
HP:0001943HP:0012734Ketotic hypoglycemia1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040283 - Occasional161
HP:0001943HP:0001998Neonatal hypoglycemia1HNF1A CL E G H692711621ORPHA:552MODYHP:0040283 - Occasional161
HP:0001943HP:0001985Hypoketotic hypoglycemia1HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0001943HP:0003162Fasting hypoglycemia1HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0001943HP:0001998Neonatal hypoglycemia1HNF4A CL E G H31725024ORPHA:263455Hyperinsulinism due to HNF4A deficiencyHP:0040281 - Very frequent138
HP:0001943HP:0001998Neonatal hypoglycemia1HNF4A CL E G H31725024ORPHA:552MODYHP:0040283 - Occasional138
HP:0001943HP:0001998Neonatal hypoglycemia1HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040282 - Frequent34
HP:0001943HP:0001998Neonatal hypoglycemia1HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII39
HP:0001943HP:0003162Fasting hypoglycemia1IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeHP:0040281 - Very frequent25
HP:0001943HP:0001998Neonatal hypoglycemia1IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0001943HP:0003162Fasting hypoglycemia1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome.9
HP:0001943HP:0001998Neonatal hypoglycemia1IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional9
HP:0001943HP:0001998Neonatal hypoglycemia1INS CL E G H36306081ORPHA:552MODYHP:0040283 - Occasional62
HP:0001943HP:0003162Fasting hypoglycemia1INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0001943HP:0002173Hypoglycemic seizures1INSR CL E G H36436091OMIM:609968Hyperinsulinemic hypoglycemia, familial, 5.229
HP:0001943HP:0001988Recurrent hypoglycemia1INSR CL E G H36436091ORPHA:263458Hyperinsulinism due to INSR deficiencyHP:0040281 - Very frequent229
HP:0001943HP:0001988Recurrent hypoglycemia1INSR CL E G H36436091ORPHA:508Leprechaunism229
HP:0001943HP:0003162Fasting hypoglycemia1INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040281 - Very frequent229
HP:0001943HP:0003162Fasting hypoglycemia1INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0001943HP:0003162Fasting hypoglycemia1INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040282 - Frequent229
HP:0001943HP:0001958Nonketotic hypoglycemia1ITGA8 CL E G H85166144ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent4
HP:0001943HP:0001985Hypoketotic hypoglycemia1KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040281 - Very frequent127
HP:0001943HP:0003162Fasting hypoglycemia1KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040281 - Very frequent127
HP:0001943HP:0002173Hypoglycemic seizures1KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040282 - Frequent127
HP:0001943HP:0001988Recurrent hypoglycemia1KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0001943HP:0001998Neonatal hypoglycemia1KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0001943HP:0001998Neonatal hypoglycemia1KCNJ11 CL E G H37676257ORPHA:552MODYHP:0040283 - Occasional127
HP:0001943HP:0001998Neonatal hypoglycemia1KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0001943HP:0001998Neonatal hypoglycemia1KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0001943HP:0001998Neonatal hypoglycemia1KDM6A CL E G H740312637OMIM:300867Kabuki syndrome 253
HP:0001943HP:0001998Neonatal hypoglycemia1KLF11 CL E G H846211811ORPHA:552MODYHP:0040283 - Occasional78
HP:0001943HP:0001998Neonatal hypoglycemia1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0001943HP:0012734Ketotic hypoglycemia1MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent94
HP:0001943HP:0002173Hypoglycemic seizures1MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent94
HP:0001943HP:0001988Recurrent hypoglycemia1MC2R CL E G H41586930OMIM:202200Glucocorticoid deficiency 1.94
HP:0001943HP:0001988Recurrent hypoglycemia1MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040281 - Very frequent462
HP:0001943HP:0001958Nonketotic hypoglycemia1MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040281 - Very frequent462
HP:0001943HP:0012051Reactive hypoglycemia1MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040282 - Frequent462
HP:0001943HP:0001988Recurrent hypoglycemia1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0001943HP:0002173Hypoglycemic seizures1MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent26
HP:0001943HP:0012734Ketotic hypoglycemia1MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent26
HP:0001943HP:0001988Recurrent hypoglycemia1MRAP CL E G H562461304OMIM:607398Glucocorticoid deficiency 2.26
HP:0001943HP:0001998Neonatal hypoglycemia1MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001943HP:0001998Neonatal hypoglycemia1MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040284 - Very rare68
HP:0001943HP:0001988Recurrent hypoglycemia1NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare
HP:0001943HP:0001998Neonatal hypoglycemia1NEUROD1 CL E G H47607762ORPHA:552MODYHP:0040283 - Occasional32
HP:0001943HP:0001988Recurrent hypoglycemia1NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040281 - Very frequent11
HP:0001943HP:0012734Ketotic hypoglycemia1NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent13
HP:0001943HP:0002173Hypoglycemic seizures1NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent13
HP:0001943HP:0001998Neonatal hypoglycemia1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0001943HP:0001998Neonatal hypoglycemia1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0001943HP:0001998Neonatal hypoglycemia1OTX2 CL E G H50158522OMIM:613986Pituitary hormone deficiency, combined, 641
HP:0001943HP:0001988Recurrent hypoglycemia1PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0001943HP:0001998Neonatal hypoglycemia1PAX4 CL E G H50788618ORPHA:552MODYHP:0040283 - Occasional55
HP:0001943HP:0003162Fasting hypoglycemia1PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0001943HP:0002173Hypoglycemic seizures1PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiencyHP:0040283 - Occasional65
HP:0001943HP:0012051Reactive hypoglycemia1PCSK1 CL E G H51228743OMIM:600955Proprotein convertase 1/3 deficiency.65
HP:0001943HP:0001998Neonatal hypoglycemia1PDX1 CL E G H36516107ORPHA:552MODYHP:0040283 - Occasional30
HP:0001943HP:0001998Neonatal hypoglycemia1PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0001943HP:0003162Fasting hypoglycemia1PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040282 - Frequent54
HP:0001943HP:0012734Ketotic hypoglycemia1PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0001943HP:0001988Recurrent hypoglycemia1PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0001943HP:0003162Fasting hypoglycemia1PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0001943HP:0003162Fasting hypoglycemia1PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040282 - Frequent48
HP:0001943HP:0003162Fasting hypoglycemia1PHKG2 CL E G H52618931OMIM:613027Glycogen storage disease IXc48
HP:0001943HP:0002173Hypoglycemic seizures1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0001943HP:0002173Hypoglycemic seizures1POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiencyHP:0040283 - Occasional27
HP:0001943HP:0002173Hypoglycemic seizures1POMC CL E G H54439201OMIM:609734Obesity, early-onset, with adrenal insufficiency and red hair.27
HP:0001943HP:0001988Recurrent hypoglycemia1PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0001943HP:0001998Neonatal hypoglycemia1PRKAG2 CL E G H514229386OMIM:261740Glycogen storage disease of heart, lethal congenital.235
HP:0001943HP:0001998Neonatal hypoglycemia1PROP1 CL E G H56269455OMIM:262600Pituitary hormone deficiency, combined, 2.54
HP:0001943HP:0002173Hypoglycemic seizures1PROP1 CL E G H56269455OMIM:262600Pituitary hormone deficiency, combined, 2.54
HP:0001943HP:0001958Nonketotic hypoglycemia1RET CL E G H59799967ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent572
HP:0001943HP:0003162Fasting hypoglycemia1SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0001943HP:0001998Neonatal hypoglycemia1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0001943HP:0002173Hypoglycemic seizures1SLC16A1 CL E G H656610922OMIM:610021HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF774
HP:0001943HP:0012734Ketotic hypoglycemia1SLC16A1 CL E G H656610922OMIM:616095Monocarboxylate transporter 1 deficiency.74
HP:0001943HP:0003162Fasting hypoglycemia1SLC1A1 CL E G H650510939OMIM:222730Dicarboxylicamino aciduria.71
HP:0001943HP:0001988Recurrent hypoglycemia1SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207
HP:0001943HP:0001985Hypoketotic hypoglycemia1SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040281 - Very frequent40
HP:0001943HP:0003162Fasting hypoglycemia1SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040281 - Very frequent40
HP:0001943HP:0001998Neonatal hypoglycemia1SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency40
HP:0001943HP:0003162Fasting hypoglycemia1SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndromeHP:0040282 - Frequent71
HP:0001943HP:0002173Hypoglycemic seizures1SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040283 - Occasional110
HP:0001943HP:0012734Ketotic hypoglycemia1STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent45
HP:0001943HP:0002173Hypoglycemic seizures1STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent45
HP:0001943HP:0001988Recurrent hypoglycemia1STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare1
HP:0001943HP:0002173Hypoglycemic seizures1TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040283 - Occasional12
HP:0001943HP:0003162Fasting hypoglycemia1TBX19 CL E G H909511596OMIM:201400Acth deficiency, isolated.57
HP:0001943HP:0001998Neonatal hypoglycemia1TBX19 CL E G H909511596ORPHA:199296Congenital isolated ACTH deficiencyHP:0040280 - Obligate57
HP:0001943HP:0002173Hypoglycemic seizures1TBX19 CL E G H909511596ORPHA:199296Congenital isolated ACTH deficiencyHP:0040282 - Frequent57
HP:0001943HP:0012734Ketotic hypoglycemia1TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040281 - Very frequent85
HP:0001943HP:0002173Hypoglycemic seizures1TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent85
HP:0001943HP:0002173Hypoglycemic seizures1UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiencyHP:0040283 - Occasional15
HP:0001943HP:0012051Reactive hypoglycemia1UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiencyHP:0040281 - Very frequent15
HP:0001943HP:0001985Hypoketotic hypoglycemia1UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiencyHP:0040281 - Very frequent15
HP:0001943HP:0001988Recurrent hypoglycemia1UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiencyHP:0040281 - Very frequent15
HP:0001943HP:0001998Neonatal hypoglycemia1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0001943HP:0001958Nonketotic hypoglycemia1WNT9B CL E G H748412779ORPHA:1848Renal agenesis, bilateralHP:0040281 - Very frequent
HP:0001943HP:0001998Neonatal hypoglycemia1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001943HP:0012051Reactive hypoglycemia1YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040282 - Frequent7
HP:0001943HP:0001958Nonketotic hypoglycemia1YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040281 - Very frequent7
HP:0001943HP:0001988Recurrent hypoglycemia1YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040281 - Very frequent7
HP:0001943HP:0004914Recurrent infantile hypoglycemia2INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040282 - Frequent229


Genes (247) :ABCC8 ACAD8 ACAD9 ACADM ACADS ACADSB ACADVL ACAT1 ACSF3 AGL AKT2 ALDH7A1 ALDOB ALG12 APC2 APPL1 ASXL2 ATP5F1D ATP7A AUH BCKDHA BCKDHB BCS1L BLK CA5A CACNA1C CAMKMT CDKN1C CDON CEL CIC CLPB COG7 COG8 COX10 COX16 CPT1A CPT2 CTDP1 CYB561 CYC1 CYP11A1 CYP21A2 CYTB DBH DBT DGUOK DLD DMXL2 DNAJC19 DOLK EBP EHHADH EIF2S3 ETFA ETFB ETFDH FAH FARSB FBP1 FGF20 FOXA2 FOXRED1 FUT8 G6PC1 GALK1 GALT GATB GATC GATM GCDH GCK GFM2 GFRA1 GH1 GHR GHSR GJA1 GK GLI2 GLUD1 GLYCTK GPC3 GPC4 GPR161 GRB10 GREB1L GYS2 H19 H19-ICR HADH HADHA HADHB HERC1 HESX1 HMGA2 HMGCL HMGCS2 HNF1A HNF4A HRAS HSD17B10 HSD3B2 HTRA2 HYOU1 IARS2 IGF1 IGF2 INS INSR ITGA8 KCNJ11 KCNQ1 KCNQ1OT1 KDM6A KLF11 LHX3 LHX4 LRPPRC MADD MC2R MCCC1 MCCC2 MEN1 MICOS13 MLYCD MMACHC MMUT MPC1 MPV17 MRAP MRPS2 MRPS28 MRPS7 MSL3 MTO1 MTOR NAB2 NBAS ND1 ND2 ND3 NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEUROD1 NFKB2 NFS1 NNT NR1H4 NR3C1 NSD1 NUBPL ODC1 OTC OTX2 PAK1 PAX4 PC PCCA PCCB PCK1 PCK2 PCSK1 PDX1 PET100 PGM1 PHKA1 PHKA2 PHKB PHKG2 PLAG1 PLPBP PNPO POGZ POMC POU1F1 PPM1B PPP1R15B PPP2R5D PREPL PRKAG2 PROKR2 PROP1 PTEN PTF1A PYGL QRSL1 RET RNF125 ROBO1 SAMD9 SCO1 SECISBP2 SERAC1 SETD2 SGPL1 SLC16A1 SLC1A1 SLC22A5 SLC25A20 SLC2A2 SLC34A1 SLC37A4 SLC3A1 SLC52A1 SOX3 STAR STAT6 SUCLG1 TANGO2 TBX19 TFAM TFE3 TIMMDC1 TMEM126B TRMT10A TXNRD2 UCP2 UQCC3 UQCRB UQCRC2 WARS2 WDR11 WNT9B YARS1 YY1

Diseases (241) :ORPHA:276575 OMIM:256450 OMIM:240800 ORPHA:552 ORPHA:79159 ORPHA:99901 OMIM:611126 OMIM:201450 ORPHA:42 ORPHA:26792 OMIM:610006 ORPHA:26793 OMIM:201475 ORPHA:134 ORPHA:289504 ORPHA:366 OMIM:232400 ORPHA:293964 OMIM:240900 ORPHA:3006 OMIM:229600 ORPHA:469 ORPHA:79324 ORPHA:821 OMIM:617190 OMIM:618120 ORPHA:565 ORPHA:67046 OMIM:248600 OMIM:124000 OMIM:615751 OMIM:601005 ORPHA:163693 OMIM:130650 ORPHA:397590 ORPHA:95496 OMIM:617600 ORPHA:445038 OMIM:616271 OMIM:608779 ORPHA:95428 OMIM:619046 OMIM:619355 ORPHA:156 OMIM:255120 ORPHA:228308 ORPHA:228305 OMIM:600649 OMIM:608836 ORPHA:48431 OMIM:618182 OMIM:615453 ORPHA:168558 ORPHA:289548 OMIM:201910 ORPHA:137675 ORPHA:230 OMIM:223360 OMIM:251880 OMIM:246900 ORPHA:2394 ORPHA:453533 OMIM:616113 ORPHA:66634 OMIM:610768 ORPHA:35173 ORPHA:3337 OMIM:300148 OMIM:231680 OMIM:276700 OMIM:613658 OMIM:229700 ORPHA:348 ORPHA:1848 ORPHA:95494 ORPHA:2609 OMIM:618241 OMIM:618005 OMIM:232200 ORPHA:79237 ORPHA:79239 OMIM:618838 OMIM:618839 OMIM:231670 ORPHA:25 OMIM:602485 ORPHA:79299 ORPHA:565624 OMIM:262400 ORPHA:633 ORPHA:314802 ORPHA:314811 ORPHA:2710 OMIM:307030 OMIM:606762 ORPHA:35878 OMIM:220120 ORPHA:373 ORPHA:96182 OMIM:240600 ORPHA:2089 ORPHA:231140 OMIM:180860 OMIM:231530 OMIM:609975 ORPHA:71212 ORPHA:5 OMIM:609016 OMIM:609015 ORPHA:746 ORPHA:457359 ORPHA:226307 ORPHA:20 OMIM:246450 ORPHA:35701 ORPHA:324575 OMIM:616026 ORPHA:263455 OMIM:218040 ORPHA:391428 OMIM:300438 ORPHA:90791 OMIM:617248 OMIM:233600 ORPHA:436174 OMIM:616007 ORPHA:73272 OMIM:246200 OMIM:609968 ORPHA:263458 ORPHA:508 OMIM:262190 ORPHA:769 ORPHA:276580 ORPHA:79644 OMIM:601820 OMIM:300867 OMIM:262700 OMIM:220111 OMIM:619004 ORPHA:361 OMIM:202200 OMIM:210200 ORPHA:6 OMIM:210210 ORPHA:97279 OMIM:131100 OMIM:618329 OMIM:248360 ORPHA:79282 OMIM:251000 OMIM:614741 OMIM:256810 OMIM:607398 OMIM:617950 OMIM:618958 OMIM:617872 OMIM:301032 OMIM:614702 ORPHA:457485 OMIM:616638 ORPHA:2126 OMIM:616483 OMIM:618253 OMIM:252010 ORPHA:293978 OMIM:615577 OMIM:619386 OMIM:614736 OMIM:617049 ORPHA:786 OMIM:615962 OMIM:117550 OMIM:619075 ORPHA:664 OMIM:613986 OMIM:618158 OMIM:266150 OMIM:606054 ORPHA:35 OMIM:261680 OMIM:261650 ORPHA:71528 OMIM:600955 OMIM:619055 OMIM:614921 OMIM:300559 ORPHA:264580 OMIM:306000 ORPHA:79240 OMIM:261750 OMIM:613027 ORPHA:79096 OMIM:610090 OMIM:616364 ORPHA:71526 OMIM:609734 OMIM:616817 ORPHA:391408 ORPHA:457279 OMIM:616355 OMIM:261740 ORPHA:90695 OMIM:262600 ORPHA:109 OMIM:609069 ORPHA:369 OMIM:232700 OMIM:618835 OMIM:616260 OMIM:617053 OMIM:619048 ORPHA:171706 OMIM:614739 OMIM:617575 OMIM:610021 OMIM:616095 OMIM:222730 OMIM:212140 OMIM:212138 ORPHA:159 ORPHA:2088 ORPHA:79259 OMIM:232220 OMIM:232240 OMIM:615026 ORPHA:17 OMIM:245400 OMIM:616878 ORPHA:480864 OMIM:201400 ORPHA:199296 OMIM:617156 OMIM:301066 ORPHA:276556 OMIM:616111 OMIM:615158 OMIM:615160 OMIM:617710 ORPHA:572798 OMIM:619418
 

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