Term ID: 5575
Name: Hemolytic-uremic syndrome
Synonym: Hemolytic uremic syndrome
Definition: A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.
Comments:
Reference: HP:0005575
Genes and Diseases: Child Nodes: Sister Nodes: ..Abnormal glomerular filtration rate (HP:0012212) ..Abnormal renal tubular resorption (HP:0011038) ..Abnormality of renal excretion (HP:0011036) ..Elevated alkaline phosphatase of renal origin (HP:0010680) ..Hematuria (HP:0000790) ..Impaired urinary acidification (HP:0031033) ..Isothenuria (HP:0030036) ..Low alkaline phosphatase of renal origin (HP:0010685) ..Nephritis (HP:0000123) ..Nephropathy (HP:0000112) ..Nephrotic syndrome (HP:0000100) ..Renal insufficiency (HP:0000083) ..Renal tubular dysfunction (HP:0000124) ..Renovascular hypertension (HP:0100817) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 ADAMTS13 CL E G H 11093 1366 OMIM:274150 Thrombotic thrombocytopenic purpura, hereditary . 129 HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 C3 CL E G H 718 1318 OMIM:612925 Hemolytic uremic syndrome, atypical, susceptibility to, 5 . 92 HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 CD46 CL E G H 4179 6953 OMIM:612922 Hemolytic uremic syndrome, atypical, susceptibility to, 2 . 39 HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 CFB CL E G H 629 1037 OMIM:612924 Hemolytic uremic syndrome, atypical, susceptibility to, 4 . 30 HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 CFH CL E G H 3075 4883 OMIM:235400 Hemolytic uremic syndrome, atypical, susceptibility to, 1 . 86 HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 CFHR1 CL E G H 3078 4888 OMIM:235400 Hemolytic uremic syndrome, atypical, susceptibility to, 1 . HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 CFHR3 CL E G H 10878 16980 OMIM:235400 Hemolytic uremic syndrome, atypical, susceptibility to, 1 . HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 CFI CL E G H 3426 5394 OMIM:612923 Hemolytic uremic syndrome, atypical, susceptibility to, 3 . 57 HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 DGKE CL E G H 8526 2852 OMIM:615008 Nephrotic syndrome, type 7 HP:0040283 - Occasional 17 HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 MMACHC CL E G H 25974 24525 ORPHA:79282 Methylmalonic acidemia with homocystinuria, type cblC HP:0040284 - Very rare 101 HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 MMACHC CL E G H 25974 24525 OMIM:277400 Methylmalonic aciduria and homocystinuria, Cblc type . 101 HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 MTRR CL E G H 4552 7473 ORPHA:2169 Methylcobalamin deficiency type cblE HP:0040283 - Occasional 88 HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 PRDX1 CL E G H 5052 9352 OMIM:277400 Methylmalonic aciduria and homocystinuria, Cblc type . HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 THBD CL E G H 7056 11784 OMIM:612926 Hemolytic uremic syndrome, atypical, susceptibility to, 6 . 60 HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 TMEM165 CL E G H 55858 30760 OMIM:614727 Congenital disorder of glycosylation, type IIK 24 HP:0005575 HP:0005575 Hemolytic-uremic syndrome 0 ZNFX1 CL E G H 57169 29271 OMIM:619644 IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
