Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of higher mental function (HP:0011446)help
Parent Node:
expand
Reduced consciousness/confusion (HP:0004372)help
..Starting node
..expand
Coma (HP:0001259)help
Term ID: 1259
Name: Coma
Synonym: Coma
Definition: Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.
Comments:
Reference: HP:0001259
Genes and Diseases:
 
       Child Nodes:
........expandHypoglycemic coma (HP:0001325) help

 Sister Nodes: 
..expandConfusion (HP:0001289) help
..expandDrowsiness (HP:0002329) help
..expandEpisodic hypersomnia (HP:0007200) help
..expandExcessive daytime sleepiness (HP:0002189) help
..expandExcessive daytime somnolence (HP:0001262) help
..expandFluctuations in consciousness (HP:0007159) help
..expandLethargy (HP:0001254) help
..expandLoss of consciousness (HP:0007185) help
..expandVegetative state (HP:0031358) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001259HP:0001259Coma0ABCC8 CL E G H6833276575ORPHA1661110859600509
HP:0001259HP:0001259Coma0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1661110859600509
HP:0001259HP:0001259Coma0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM117148889607008
HP:0001259HP:0001259Coma0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167313417612724
HP:0001259HP:0001259Coma0APP CL E G H351324713ORPHA1107316620104760
HP:0001259HP:0001259Coma0APP CL E G H351324703ORPHA1107316620104760
HP:0001259HP:0001259Coma0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1169418746608310
HP:0001259HP:0001259Coma0ASPA CL E G H443314911ORPHA1102244756608034
HP:0001259HP:0001259Coma0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1157472758603470
HP:0001259HP:0001259Coma0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM199706800182340
HP:0001259HP:0001259Coma0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM19381378870606882
HP:0001259HP:0001259Coma0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1101379986608348
HP:0001259HP:0001259Coma0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1115447987248611
HP:0001259HP:0001259Coma0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM125119631388601011
HP:0001259HP:0001259Coma0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM12768072323608307
HP:0001259HP:0001259Coma0CPT1A CL E G H1374156ORPHA1534502328600528
HP:0001259HP:0001259Coma0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1534502328600528
HP:0001259HP:0001259Coma0CPT2 CL E G H1376228308ORPHA11135012330600650
HP:0001259HP:0001259Coma0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM1784652698248610
HP:0001259HP:0001259Coma0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM1481673606611570
HP:0001259HP:0001259Coma0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1372194289300474
HP:0001259HP:0001259Coma0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM1495784976609018
HP:0001259HP:0001259Coma0HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM1602405005613898
HP:0001259HP:0001259Coma0HNF1A CL E G H6927324575ORPHA153940711621142410
HP:0001259HP:0001259Coma0HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA11573525024600281
HP:0001259HP:0001259Coma0IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM1923776186607036
HP:0001259HP:0001259Coma0KCNJ11 CL E G H3767276580ORPHA11872986257600937
HP:0001259HP:0001259Coma0KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM18486469605197
HP:0001259HP:0001259Coma0MC2R CL E G H4158202200ACTH resistance202200C4049650OMIM1522316930607397
HP:0001259HP:0001259Coma0MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM11084276936609010
HP:0001259HP:0001259Coma0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM11174026937609014
HP:0001259HP:0001259Coma0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM17633418871607481
HP:0001259HP:0001259Coma0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM14235519331607568
HP:0001259HP:0001259Coma0MMUT CL E G H4594289916ORPHA16087526609058
HP:0001259HP:0001259Coma0MMUT CL E G H459479312ORPHA16087526609058
HP:0001259HP:0001259Coma0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM16087526609058
HP:0001259HP:0001259Coma0NAGS CL E G H162417237310Hyperammonemia, type III237310C0268543OMIM14923717996608300
HP:0001259HP:0001259Coma0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM1105518453608862
HP:0001259HP:0001259Coma0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0001259HP:0001259Coma0NOTCH3 CL E G H4854136ORPHA13798367883600276
HP:0001259HP:0001259Coma0OTC CL E G H5009311250Ornithine carbamoyltransferase deficiency311250C0268542OMIM15277398512300461
HP:0001259HP:0001259Coma0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11496008653232000
HP:0001259HP:0001259Coma0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11314758654232050
HP:0001259HP:0001259Coma0POLG CL E G H5428726ORPHA130014389179174763
HP:0001259HP:0001259Coma0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842949360170280
HP:0001259HP:0001259Coma0RANBP2 CL E G H590388619ORPHA186849848601181
HP:0001259HP:0001259Coma0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM13839316266606152
HP:0001259HP:0001259Coma0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM116165310969603377
HP:0001259HP:0001259Coma0SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM111538610983603859
HP:0001259HP:0001259Coma0SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM13827810985603861
HP:0001259HP:0001259Coma0SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM1421151421613698
HP:0001259HP:0001259Coma0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16740111065603593
HP:0001259HP:0001259Coma0TRDN CL E G H10345615441Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness615441C3809536OMIM1661012261603283
HP:0001259HP:0001259Coma0UCP2 CL E G H7351276556ORPHA1103912518601693
HP:0001259HP:0001259Coma1ABCC8 CL E G H6833276575ORPHA1661110859600509
HP:0001259HP:0001259Coma1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1661110859600509
HP:0001259HP:0001259Coma1ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM117148889607008
HP:0001259HP:0001259Coma1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167313417612724
HP:0001259HP:0001259Coma1APP CL E G H351324713ORPHA1107316620104760
HP:0001259HP:0001259Coma1APP CL E G H351324703ORPHA1107316620104760
HP:0001259HP:0001259Coma1ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1169418746608310
HP:0001259HP:0001259Coma1ASPA CL E G H443314911ORPHA1102244756608034
HP:0001259HP:0001259Coma1ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1157472758603470
HP:0001259HP:0001259Coma1ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM199706800182340
HP:0001259HP:0001259Coma1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM19381378870606882
HP:0001259HP:0001259Coma1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1101379986608348
HP:0001259HP:0001259Coma1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1115447987248611
HP:0001259HP:0001259Coma1CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM125119631388601011
HP:0001259HP:0001259Coma1CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM12768072323608307
HP:0001259HP:0001259Coma1CPT1A CL E G H1374156ORPHA1534502328600528
HP:0001259HP:0001259Coma1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1534502328600528
HP:0001259HP:0001259Coma1CPT2 CL E G H1376228308ORPHA11135012330600650
HP:0001259HP:0001259Coma1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM1784652698248610
HP:0001259HP:0001259Coma1FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM1481673606611570
HP:0001259HP:0001259Coma1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1372194289300474
HP:0001259HP:0001259Coma1HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM1495784976609018
HP:0001259HP:0001259Coma1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM1602405005613898
HP:0001259HP:0001259Coma1HNF1A CL E G H6927324575ORPHA153940711621142410
HP:0001259HP:0001259Coma1HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA11573525024600281
HP:0001259HP:0001259Coma1IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM1923776186607036
HP:0001259HP:0001259Coma1KCNJ11 CL E G H3767276580ORPHA11872986257600937
HP:0001259HP:0001259Coma1KYNU CL E G H8942236800Hydroxykynureninuria236800C0268474OMIM18486469605197
HP:0001259HP:0001259Coma1MC2R CL E G H4158202200ACTH resistance202200C4049650OMIM1522316930607397
HP:0001259HP:0001259Coma1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM11084276936609010
HP:0001259HP:0001259Coma1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM11174026937609014
HP:0001259HP:0001259Coma1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM17633418871607481
HP:0001259HP:0001259Coma1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM14235519331607568
HP:0001259HP:0001259Coma1MMUT CL E G H459479312ORPHA16087526609058
HP:0001259HP:0001259Coma1MMUT CL E G H4594289916ORPHA16087526609058
HP:0001259HP:0001259Coma1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM16087526609058
HP:0001259HP:0001259Coma1NAGS CL E G H162417237310Hyperammonemia, type III237310C0268543OMIM14923717996608300
HP:0001259HP:0001259Coma1NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM1105518453608862
HP:0001259HP:0001259Coma1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0001259HP:0001259Coma1NOTCH3 CL E G H4854136ORPHA13798367883600276
HP:0001259HP:0001259Coma1OTC CL E G H5009311250Ornithine carbamoyltransferase deficiency311250C0268542OMIM15277398512300461
HP:0001259HP:0001259Coma1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11496008653232000
HP:0001259HP:0001259Coma1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11314758654232050
HP:0001259HP:0001259Coma1POLG CL E G H5428726ORPHA130014389179174763
HP:0001259HP:0001259Coma1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842949360170280
HP:0001259HP:0001259Coma1RANBP2 CL E G H590388619ORPHA186849848601181
HP:0001259HP:0001259Coma1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM13839316266606152
HP:0001259HP:0001259Coma1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM116165310969603377
HP:0001259HP:0001259Coma1SLC25A13 CL E G H10165603471Citrullinemia type II603471C1863844OMIM111538610983603859
HP:0001259HP:0001259Coma1SLC25A15 CL E G H10166238970Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome238970C0268540OMIM13827810985603861
HP:0001259HP:0001259Coma1SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM1421151421613698
HP:0001259HP:0001259Coma1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16740111065603593
HP:0001259HP:0001259Coma1TRDN CL E G H10345615441Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness615441C3809536OMIM1661012261603283
HP:0001259HP:0001259Coma1UCP2 CL E G H7351276556ORPHA1103912518601693
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001259HP:0001259Coma0ABCC8 CL E G H683399885ORPHA0661110859600509
HP:0001259HP:0001259Coma0ABCC8 CL E G H683399886ORPHA0661110859600509
HP:0001259HP:0001259Coma0AUH CL E G H54967046ORPHA012143890600529
HP:0001259HP:0001259Coma0BRAF CL E G H67354595ORPHA0685991097164757
HP:0001259HP:0001259Coma0BTD CL E G H68679241ORPHA02484501122609019
HP:0001259HP:0001259Coma0CTNNB1 CL E G H149954595ORPHA0542412514116806
HP:0001259HP:0001259Coma0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA0811773255604032
HP:0001259HP:0001259Coma0GCDH CL E G H263925ORPHA02444634189608801
HP:0001259HP:0001259Coma0GCK CL E G H264599885ORPHA08485514195138079
HP:0001259HP:0001259Coma0GCK CL E G H264579299ORPHA08485514195138079
HP:0001259HP:0001259Coma0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA0714734801600890
HP:0001259HP:0001259Coma0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA0672094803143450
HP:0001259HP:0001259Coma0HLCS CL E G H314179242ORPHA0495784976609018
HP:0001259HP:0001259Coma0HYMAI CL E G H5706199886ORPHA0165326606546
HP:0001259HP:0001259Coma0INS CL E G H363099885ORPHA0831286081176730
HP:0001259HP:0001259Coma0INSR CL E G H3643263458ORPHA01965036091147670
HP:0001259HP:0001259Coma0KCNJ11 CL E G H376799885ORPHA01872986257600937
HP:0001259HP:0001259Coma0KCNJ11 CL E G H376799886ORPHA01872986257600937
HP:0001259HP:0001259Coma0KYNU CL E G H894279155ORPHA08486469605197
HP:0001259HP:0001259Coma0MEN1 CL E G H422197279ORPHA074814087010613733
HP:0001259HP:0001259Coma0PDX1 CL E G H365199885ORPHA033996107600733
HP:0001259HP:0001259Coma0PLAGL1 CL E G H532599886ORPHA02309046603044
HP:0001259HP:0001259Coma0SLC25A20 CL E G H788159ORPHA0421151421613698
HP:0001259HP:0001259Coma0STAT3 CL E G H677499885ORPHA015539311364102582
HP:0001259HP:0001259Coma0ZFP57 CL E G H34617199886ORPHA0157018791612192
HP:0001259HP:0001259Coma1ABCC8 CL E G H683399885ORPHA0661110859600509
HP:0001259HP:0001259Coma1ABCC8 CL E G H683399886ORPHA0661110859600509
HP:0001259HP:0001259Coma1AUH CL E G H54967046ORPHA012143890600529
HP:0001259HP:0001259Coma1BRAF CL E G H67354595ORPHA0685991097164757
HP:0001259HP:0001259Coma1BTD CL E G H68679241ORPHA02484501122609019
HP:0001259HP:0001259Coma1CTNNB1 CL E G H149954595ORPHA0542412514116806
HP:0001259HP:0001259Coma1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA0811773255604032
HP:0001259HP:0001259Coma1GCDH CL E G H263925ORPHA02444634189608801
HP:0001259HP:0001259Coma1GCK CL E G H264579299ORPHA08485514195138079
HP:0001259HP:0001259Coma1GCK CL E G H264599885ORPHA08485514195138079
HP:0001259HP:0001259Coma1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA0714734801600890
HP:0001259HP:0001259Coma1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA0672094803143450
HP:0001259HP:0001259Coma1HLCS CL E G H314179242ORPHA0495784976609018
HP:0001259HP:0001259Coma1HYMAI CL E G H5706199886ORPHA0165326606546
HP:0001259HP:0001259Coma1INS CL E G H363099885ORPHA0831286081176730
HP:0001259HP:0001259Coma1INSR CL E G H3643263458ORPHA01965036091147670
HP:0001259HP:0001259Coma1KCNJ11 CL E G H376799886ORPHA01872986257600937
HP:0001259HP:0001259Coma1KCNJ11 CL E G H376799885ORPHA01872986257600937
HP:0001259HP:0001259Coma1KYNU CL E G H894279155ORPHA08486469605197
HP:0001259HP:0001259Coma1MEN1 CL E G H422197279ORPHA074814087010613733
HP:0001259HP:0001259Coma1PDX1 CL E G H365199885ORPHA033996107600733
HP:0001259HP:0001259Coma1PLAGL1 CL E G H532599886ORPHA02309046603044
HP:0001259HP:0001259Coma1SLC25A20 CL E G H788159ORPHA0421151421613698
HP:0001259HP:0001259Coma1STAT3 CL E G H677499885ORPHA015539311364102582
HP:0001259HP:0001259Coma1ZFP57 CL E G H34617199886ORPHA0157018791612192


Genes (75) :ABCC8 ACADM AKT2 ALDOB APP ASL ASPA ASS1 ATP1A2 ATP7B AUH BCKDHA BCKDHB BRAF BTD CACNA1A CPS1 CPT1A CPT2 CTNNB1 DBT EIF2AK3 ETFA ETFB ETFDH FBP1 GCDH GCK GK GLUD1 HADH HADHA HADHB HLCS HMGCL HNF1A HNF4A HYMAI INS INSR IVD KCNJ11 KYNU MC2R MCCC1 MCCC2 MEN1 MMAA MMAB MMUT NAGS NAXE NDUFS4 NFKB2 NNT NOTCH3 OTC PCCA PCCB PDX1 PLAGL1 POLG PRF1 RANBP2 SLC16A1 SLC19A3 SLC22A5 SLC25A13 SLC25A15 SLC25A20 SLC7A7 STAT3 TRDN UCP2 ZFP57

Diseases (75) :276575 99886 99885 240800 201450 229600 324713 324703 207900 314911 215700 602481 277900 67046 248600 54595 79241 141500 237300 156 255120 228308 1667 229700 25 79299 307030 746 79242 253270 246450 324575 263455 263458 243500 276580 79155 236800 202200 210200 210210 97279 251100 251110 79312 289916 251000 237310 617186 252010 136 311250 606054 726 603553 88619 607483 212140 603471 238970 159 212138 222700 615441 276556 256450 293964 231680 602485 606762 609975 609968 293978 614736 610021
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.