Human Phenotype Ontology 
Grandparent Node:
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Abnormality of hepatobiliary system physiology (HP:0025155)help
Parent Node:
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Decreased liver function (HP:0001410)help
..Starting node
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Hepatic failure (HP:0001399)help
Term ID: 1399
Name: Hepatic failure
Synonym: Liver failure
Definition:
Comments:
Reference: HP:0001399
Genes and Diseases:

 HPO-Disease-Gene Association for HP:0001399 and all of its descedant HPO terms  

InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameConceptIDSourceHGMD variantsClinVar variants
HP:0001399HP:0001399Hepatic failure0ABCD35825616278Bile acid synthesis defect, congenital, 5C4225390OMIM35
HP:0001399HP:0001399Hepatic failure0ACAD928976611126Acyl-CoA dehydrogenase family, member 9, deficiency ofC1970173OMIM4198
HP:0001399HP:0001399Hepatic failure0AGPAT210555528Acute myeloblastic leukemia type 3ORPHA3885
HP:0001399HP:0001399Hepatic failure0AKR1D16718235555Bile acid synthesis defect, congenital, 2C1856127OMIM1162
HP:0001399HP:0001399Hepatic failure0ALG15605279327ALG1-CDGORPHA4258
HP:0001399HP:0001399Hepatic failure0ALG62992979320ALG6-CDGORPHA2666
HP:0001399HP:0001399Hepatic failure0ALG87905379325ALG8-CDGORPHA1546
HP:0001399HP:0001399Hepatic failure0ALG97979679328ALG9-CDGORPHA493
HP:0001399HP:0001399Hepatic failure0AMACR23600214950Bile acid synthesis defect, congenital, 4C1858328OMIM1344
HP:0001399HP:0001399Hepatic failure0ATP7B540277900Wilson diseaseC0019202OMIM878315
HP:0001399HP:0001399Hepatic failure0BSCL226580528Acute myeloblastic leukemia type 3ORPHA45105
HP:0001399HP:0001399Hepatic failure0CAV1857528Acute myeloblastic leukemia type 3ORPHA1111
HP:0001399HP:0001399Hepatic failure0COQ227235607426Coenzyme Q10 deficiency, primary 1C1843920OMIM2954
HP:0001399HP:0001399Hepatic failure0CPT1A1374156Carnitine palmitoyl transferase 1A deficiencyORPHA4399
HP:0001399HP:0001399Hepatic failure0CPT21376228308Carnitine palmitoyl transferase II deficiency, neonatal formORPHA104101
HP:0001399HP:0001399Hepatic failure0CYP7B19420613812Bile acid synthesis defect, congenital, 3C3151147OMIM4157
HP:0001399HP:0001399Hepatic failure0CYP7B1942079302Congenital bile acid synthesis defect type 3ORPHA4157
HP:0001399HP:0001399Hepatic failure0DGUOK1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebralC3151513OMIM6057
HP:0001399HP:0001399Hepatic failure0EPM2A7957254780Lafora diseaseC0751783OMIM7483
HP:0001399HP:0001399Hepatic failure0FECH2235177000Erythropoietic protoporphyriaC0162568OMIM194145
HP:0001399HP:0001399Hepatic failure0FH2271606812Fumarase deficiencyC0342770OMIM172301
HP:0001399HP:0001399Hepatic failure0FOS2353528Acute myeloblastic leukemia type 3ORPHA2
HP:0001399HP:0001399Hepatic failure0FOXRED155572252010Mitochondrial complex I deficiencyC1838979OMIM761
HP:0001399HP:0001399Hepatic failure0GALT259279239Classic galactosemiaORPHA327351
HP:0001399HP:0001399Hepatic failure0GBA2629608013Gaucher disease, perinatal lethalC1842704OMIM460108
HP:0001399HP:0001399Hepatic failure0GBE12632232500Glycogen storage disease, type IVC0017923OMIM7086
HP:0001399HP:0001399Hepatic failure0HSD3B780270607765Bile acid synthesis defect, congenital, 1C1843116OMIM2326
HP:0001399HP:0001399Hepatic failure0IFT12255764218330Cranioectodermal dysplasia 1C0432235OMIM1693
HP:0001399HP:0001399Hepatic failure0IFT17226160615630Short-rib thoracic dysplasia 10 with or without polydactylyC3810175OMIM2148
HP:0001399HP:0001399Hepatic failure0IL12A3592186Primary biliary cholangitisORPHA2
HP:0001399HP:0001399Hepatic failure0IL12RB13594186Primary biliary cholangitisORPHA8546
HP:0001399HP:0001399Hepatic failure0IL21R50615615207IL21R immunodeficiencyC3554687OMIM107
HP:0001399HP:0001399Hepatic failure0IRF53663186Primary biliary cholangitisORPHA94
HP:0001399HP:0001399Hepatic failure0LIPA398875234Cholesteryl ester storage diseaseORPHA6873
HP:0001399HP:0001399Hepatic failure0LIPA398875233Wolman diseaseORPHA6873
HP:0001399HP:0001399Hepatic failure0MMEL179258186Primary biliary cholangitisORPHA1
HP:0001399HP:0001399Hepatic failure0MOGS784179330MOGS-CDGORPHA537
HP:0001399HP:0001399Hepatic failure0MPI4351602579Congenital disorder of glycosylation type 1BC1865145OMIM1951
HP:0001399HP:0001399Hepatic failure0MPI435179319MPI-CDGORPHA1951
HP:0001399HP:0001399Hepatic failure0NDUFA14694252010Mitochondrial complex I deficiencyC1838979OMIM57
HP:0001399HP:0001399Hepatic failure0NDUFA11126328252010Mitochondrial complex I deficiencyC1838979OMIM132
HP:0001399HP:0001399Hepatic failure0NDUFAF151103252010Mitochondrial complex I deficiencyC1838979OMIM740
HP:0001399HP:0001399Hepatic failure0NDUFAF291942252010Mitochondrial complex I deficiencyC1838979OMIM826
HP:0001399HP:0001399Hepatic failure0NDUFAF325915252010Mitochondrial complex I deficiencyC1838979OMIM531
HP:0001399HP:0001399Hepatic failure0NDUFAF429078252010Mitochondrial complex I deficiencyC1838979OMIM250
HP:0001399HP:0001399Hepatic failure0NDUFAF579133252010Mitochondrial complex I deficiencyC1838979OMIM1034
HP:0001399HP:0001399Hepatic failure0NDUFB34709252010Mitochondrial complex I deficiencyC1838979OMIM29
HP:0001399HP:0001399Hepatic failure0NDUFB94715252010Mitochondrial complex I deficiencyC1838979OMIM216
HP:0001399HP:0001399Hepatic failure0NDUFS14719252010Mitochondrial complex I deficiencyC1838979OMIM1981
HP:0001399HP:0001399Hepatic failure0NDUFS24720252010Mitochondrial complex I deficiencyC1838979OMIM2265
HP:0001399HP:0001399Hepatic failure0NDUFS34722252010Mitochondrial complex I deficiencyC1838979OMIM322
HP:0001399HP:0001399Hepatic failure0NDUFS44724252010Mitochondrial complex I deficiencyC1838979OMIM1627
HP:0001399HP:0001399Hepatic failure0NDUFS64726252010Mitochondrial complex I deficiencyC1838979OMIM421
HP:0001399HP:0001399Hepatic failure0NDUFV14723252010Mitochondrial complex I deficiencyC1838979OMIM3274
HP:0001399HP:0001399Hepatic failure0NDUFV24729252010Mitochondrial complex I deficiencyC1838979OMIM427
HP:0001399HP:0001399Hepatic failure0NHLRC1378884254780Lafora diseaseC0751783OMIM7077
HP:0001399HP:0001399Hepatic failure0NUBPL80224252010Mitochondrial complex I deficiencyC1838979OMIM989
HP:0001399HP:0001399Hepatic failure0OTC5009664Thyroid cancer, anaplasticC0238461ORPHA504369
HP:0001399HP:0001399Hepatic failure0PCK15105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolicC1849814OMIM753
HP:0001399HP:0001399Hepatic failure0PCK25106261650Phosphoenolpyruvate carboxykinase deficiency, mitochondrialC1849821OMIM26
HP:0001399HP:0001399Hepatic failure0PEX15189912Blepharoptosis myopia ectopia lentisC1862259ORPHA123169
HP:0001399HP:0001399Hepatic failure0PEX105192912Blepharoptosis myopia ectopia lentisC1862259ORPHA3075
HP:0001399HP:0001399Hepatic failure0PEX11B8799912Blepharoptosis myopia ectopia lentisC1862259ORPHA54
HP:0001399HP:0001399Hepatic failure0PEX125193912Blepharoptosis myopia ectopia lentisC1862259ORPHA3465
HP:0001399HP:0001399Hepatic failure0PEX135194912Blepharoptosis myopia ectopia lentisC1862259ORPHA1066
HP:0001399HP:0001399Hepatic failure0PEX145195912Blepharoptosis myopia ectopia lentisC1862259ORPHA446
HP:0001399HP:0001399Hepatic failure0PEX169409912Blepharoptosis myopia ectopia lentisC1862259ORPHA1259
HP:0001399HP:0001399Hepatic failure0PEX195824912Blepharoptosis myopia ectopia lentisC1862259ORPHA362
HP:0001399HP:0001399Hepatic failure0PEX25828912Blepharoptosis myopia ectopia lentisC1862259ORPHA1882
HP:0001399HP:0001399Hepatic failure0PEX2655670912Blepharoptosis myopia ectopia lentisC1862259ORPHA23106
HP:0001399HP:0001399Hepatic failure0PEX38504912Blepharoptosis myopia ectopia lentisC1862259ORPHA747
HP:0001399HP:0001399Hepatic failure0PEX55830912Blepharoptosis myopia ectopia lentisC1862259ORPHA1499
HP:0001399HP:0001399Hepatic failure0PEX65190912Blepharoptosis myopia ectopia lentisC1862259ORPHA10498
HP:0001399HP:0001399Hepatic failure0POLG5428203700Progressive sclerosing poliodystrophyC0205710OMIM277464
HP:0001399HP:0001399Hepatic failure0POU2AF15450186Primary biliary cholangitisORPHA
HP:0001399HP:0001399Hepatic failure0PPARG5468528Acute myeloblastic leukemia type 3ORPHA5242
HP:0001399HP:0001399Hepatic failure0SC5D630946059LathosterolosisORPHA680
HP:0001399HP:0001399Hepatic failure0SERPINA1526560Iridocorneal endothelial syndromeC1840283ORPHA83131
HP:0001399HP:0001399Hepatic failure0SPIB6689186Primary biliary cholangitisORPHA
HP:0001399HP:0001399Hepatic failure0TJP29414615878Progressive familial intrahepatic cholestasis 4C2931067OMIM17149
HP:0001399HP:0001399Hepatic failure0TMEM126B55863252010Mitochondrial complex I deficiencyC1838979OMIM44
HP:0001399HP:0001399Hepatic failure0TNFSF159966186Primary biliary cholangitisORPHA2
HP:0001399HP:0001399Hepatic failure0TNPO323534186Primary biliary cholangitisORPHA371
HP:0001399HP:0001399Hepatic failure0TTC379652222470Trichohepatoenteric syndrome 1CN034858OMIM3729
HP:0001399HP:0100626Chronic hepatic failure1AKR1D1671879303Congenital bile acid synthesis defect type 2ORPHA1162
HP:0001399HP:0006554Acute hepatic failure1ATP7B540905Wilson diseaseORPHA878315
HP:0001399HP:0006554Acute hepatic failure1CYC11537615453Mitochondrial complex III deficiency, nuclear type 6C3809553OMIM212
HP:0001399HP:0100626Chronic hepatic failure1EIF2AK394511667Dandy-Walker malformation with facial hemangiomaORPHA7465
HP:0001399HP:0006554Acute hepatic failure1EIF2AK394511667Dandy-Walker malformation with facial hemangiomaORPHA7465
HP:0001399HP:0006554Acute hepatic failure1FAH2184276700Tyrosinemia type IC0268490OMIM98107
HP:0001399HP:0006554Acute hepatic failure1LARS51520615438Infantile liver failure syndrome 1C3809522OMIM470
HP:0001399HP:0006554Acute hepatic failure1MPV174358256810Navajo neurohepatopathyC1850406OMIM4056
HP:0001399HP:0006583Fatal liver failure in infancy1NPC14864257220Niemann-Pick disease type C1C3179455OMIM445258
HP:0001399HP:0006554Acute hepatic failure1TRMU55687613070Liver failure acute infantileC2751567OMIM16101
HP:0001399HP:0004448Fulminant hepatic failure2GFM185476609060Combined oxidative phosphorylation deficiency 1C1836797OMIM1885
HP:0001399HP:0004448Fulminant hepatic failure2HADH3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenaseC1291230OMIM2641
HP:0001399HP:0004787Fulminant hepatitis3SH2D1A4068308240Lymphoproliferative syndrome 1, X-linkedC1868674OMIM12637
HP:0001399HP:0004787Fulminant hepatitis3XIAP331308240Lymphoproliferative syndrome 1, X-linkedC1868674OMIM8581
Note: The variant numbers are the total numbers per gene, not limited to the listed diseases or phenotypes.

Genes (92) :ABCD3 ACAD9 AGPAT2 AKR1D1 ALG1 ALG6 ALG8 ALG9 AMACR ATP7B BSCL2 CAV1 COQ2 CPT1A CPT2 CYC1 CYP7B1 DGUOK EIF2AK3 EPM2A FAH FECH FH FOS FOXRED1 GALT GBA GBE1 GFM1 HADH HSD3B7 IFT122 IFT172 IL12A IL12RB1 IL21R IRF5 LARS LIPA MMEL1 MOGS MPI MPV17 NDUFA1 NDUFA11 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFV1 NDUFV2 NHLRC1 NPC1 NUBPL OTC PCK1 PCK2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 POLG POU2AF1 PPARG SC5D SERPINA1 SH2D1A SPIB TJP2 TMEM126B TNFSF15 TNPO3 TRMU TTC37 XIAP

Diseases (54) :616278 611126 528 235555 79327 79320 79325 79328 214950 277900 607426 156 228308 613812 79302 251880 254780 177000 606812 252010 79239 608013 232500 607765 218330 615630 186 615207 75234 75233 79330 602579 79319 664 261680 261650 912 203700 46059 60 615878 222470 79303 905 615453 1667 276700 615438 256810 257220 613070 609060 231530 308240
 
       Child Nodes:
........expandAcute hepatic failure (HP:0006554) help
................... HP:0004448 Fulminant hepatic failure
........expandFatal liver failure in infancy (HP:0006583) help
........expandChronic hepatic failure (HP:0100626) help

 Sister Nodes: 
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is Feb. 201702 release.