Human Phenotype
Ontology
Grandparent Node: Hepatic failure (HP:0001399) Parent Node: Acute hepatic failure (HP:0006554) ..Starting node .. Fulminant hepatic failure (HP:0004448)
Term ID:
4448
Name:
Fulminant hepatic failure
Synonym:
Definition:
Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.
Comments:
Reference:
HP:0004448
Genes and Diseases: Child Nodes: ........Fulminant hepatitis (HP:0004787) Sister Nodes: Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0004448 HP:0004448 Fulminant hepatic failure 0 GFM1 CL E G H 85476 13780 OMIM:609060 Combined oxidative phosphorylation deficiency 1 85 HP:0004448 HP:0004448 Fulminant hepatic failure 0 HADH CL E G H 3033 4799 OMIM:231530 3-Hydroxyacyl-Coa dehydrogenase deficiency . 41 HP:0004448 HP:0004448 Fulminant hepatic failure 0 IL18BP CL E G H 10068 5987 OMIM:618549 HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH HP:0004448 HP:0004448 Fulminant hepatic failure 0 KRT18 CL E G H 3875 6430 OMIM:215600 Cirrhosis, familial 19 HP:0004448 HP:0004448 Fulminant hepatic failure 0 SH2D1A CL E G H 4068 10820 OMIM:308240 Lymphoproliferative syndrome, X-linked, 1 37 HP:0004448 HP:0004448 Fulminant hepatic failure 0 XIAP CL E G H 331 592 OMIM:308240 Lymphoproliferative syndrome, X-linked, 1 81 HP:0004448 HP:0004787 Fulminant hepatitis 1 IL18BP CL E G H 10068 5987 OMIM:618549 HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH HP:0004448 HP:0004787 Fulminant hepatitis 1 KRT18 CL E G H 3875 6430 OMIM:215600 Cirrhosis, familial 19 HP:0004448 HP:0004787 Fulminant hepatitis 1 SH2D1A CL E G H 4068 10820 OMIM:308240 Lymphoproliferative syndrome, X-linked, 1 37 HP:0004448 HP:0004787 Fulminant hepatitis 1 XIAP CL E G H 331 592 OMIM:308240 Lymphoproliferative syndrome, X-linked, 1 81
Genes (6) :GFM1 HADH IL18BP KRT18 SH2D1A XIAP Diseases (5) :OMIM:609060 OMIM:231530 OMIM:618549 OMIM:215600 OMIM:308240
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.