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Pediatric Disease Annotations & Medicines



   hemolytic-uremic syndrome
  

Disease ID 175
Disease hemolytic-uremic syndrome
Definition
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
Synonym
gasser syndrome
gasser's syndrome
gassers syndrome
haemolytic uraemic syndrome
haemolytic uraemic syndrome -retired-
haemolytic uraemic syndrome, nos
haemolytic-uraemic syndrome
hemolytic uremic synd
hemolytic uremic syndrome
hemolytic uremic syndrome (disorder)
hemolytic uremic syndrome -retired-
hemolytic uremic syndrome, nos
hemolytic-uremic syndrome (hus)
hemolytic-uremic syndrome [disease/finding]
hus - haemolytic uraemic syndrome
hus - hemolytic uremic syndrome
kidney thrombotic thrombocytopenic purpura hemolytic uremic syndrome
kidney ttp
renal thrombotic thrombocytopenic purpura
renal thrombotic thrombocytopenic purpura hemolytic uremic syndrome
renal ttp
syndrome hemolytic uremic
syndrome, hemolytic-uremic
DOID
ICD10
UMLS
C0019061
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:56)
C0009319  |  colitis  |  13
C0035078  |  renal failure  |  10
C0011991  |  diarrhea  |  7
C0022660  |  acute renal failure  |  5
C0155765  |  microangiopathy  |  4
C0032285  |  pneumoniae  |  4
C0035078  |  kidney failure  |  4
C0024537  |  vivax malaria  |  3
C0022660  |  acute kidney failure  |  2
C0020538  |  hypertension  |  2
C0002871  |  anemia  |  2
C0011991  |  diarrhoea  |  2
C0740394  |  hyperuricemia  |  2
C0006017  |  bordetella pertussis  |  2
C0022658  |  nephropathy  |  2
C0024530  |  malaria  |  2
C0006017  |  pertussis  |  2
C0021400  |  influenza  |  2
C0018801  |  heart failure  |  2
C0024537  |  plasmodium vivax malaria  |  2
C0032269  |  streptococcus pneumoniae infection  |  2
C0040188  |  tic disorders  |  1
C0023443  |  hairy cell leukaemia  |  1
C0017662  |  membranoproliferative glomerulonephritis  |  1
C0017658  |  glomerulonephritis  |  1
C0023449  |  acute lymphoblastic leukaemia  |  1
C0178238  |  intestinal infection  |  1
C0025162  |  toxic megacolon  |  1
C0020540  |  accelerated hypertension  |  1
C0343386  |  clostridium difficile infection  |  1
C0403529  |  pulmonary-renal syndrome  |  1
C0042769  |  viral infection  |  1
C0022656  |  renal cortical necrosis  |  1
C0376358  |  prostate cancer  |  1
C0270612  |  leukoencephalopathy  |  1
C0022661  |  end-stage kidney disease  |  1
C0751967  |  relapsing-remitting multiple sclerosis  |  1
C0235618  |  proliferative glomerulonephritis  |  1
C0009447  |  common variable immunodeficiency  |  1
C0035305  |  retinal detachment  |  1
C0024535  |  falciparum malaria  |  1
C0023418  |  leukaemia  |  1
C0022658  |  kidney disease  |  1
C1136085  |  monoclonal gammopathy  |  1
C0017661  |  iga nephropathy  |  1
C1135191  |  systolic heart failure  |  1
C0027051  |  myocardial infarct  |  1
C0021845  |  intestinal perforation  |  1
C0032285  |  pneumonia  |  1
C0042373  |  angiopathy  |  1
C0027051  |  myocardial infarction  |  1
C0034150  |  purpura  |  1
C0021845  |  bowel perforation  |  1
C0031154  |  peritonitis  |  1
C0034155  |  thrombotic thrombocytopenic purpura  |  1
C0002878  |  hemolytic anemia  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:15)
TNF  |  7124  |  CTD_human
NQO1  |  1728  |  CTD_human
IL6  |  3569  |  CTD_human
IL1B  |  3553  |  CTD_human
ALB  |  213  |  CTD_human
EPO  |  2056  |  CTD_human
IL1A  |  3552  |  CTD_human
C3  |  718  |  UniProtKB-KW
DGKE  |  8526  |  UniProtKB-KW
CFB  |  629  |  UniProtKB-KW
CFH  |  3075  |  UniProtKB-KW
CFI  |  3426  |  UniProtKB-KW
CFHR5  |  81494  |  UniProtKB-KW
CD46  |  4179  |  UniProtKB-KW
THBD  |  7056  |  UniProtKB-KW
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:18)
4179  |  CD46  |  infer
3075  |  CFH  |  infer
81494  |  CFHR5  |  infer
3426  |  CFI  |  infer
1636  |  ACE  |  infer
183  |  AGT  |  infer
185  |  AGTR1  |  infer
624  |  BDKRB2  |  infer
9607  |  CARTPT  |  infer
3078  |  CFHR1  |  infer
2147  |  F2  |  infer
2153  |  F5  |  infer
2811  |  GP1BA  |  infer
3673  |  ITGA2  |  infer
3690  |  ITGB3  |  infer
4524  |  MTHFR  |  infer
5054  |  SERPINE1  |  infer
7056  |  THBD  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:155)
933  |  CD22  |  DISEASES
112755  |  STX1B  |  DISEASES
51285  |  RASL12  |  DISEASES
5327  |  PLAT  |  DISEASES
973  |  CD79A  |  DISEASES
6804  |  STX1A  |  DISEASES
5054  |  SERPINE1  |  DISEASES
727  |  C5  |  DISEASES
40  |  ASIC2  |  DISEASES
6347  |  CCL2  |  DISEASES
7035  |  TFPI  |  DISEASES
4759  |  NEU2  |  DISEASES
64895  |  PAPOLG  |  DISEASES
1846  |  DUSP4  |  DISEASES
51747  |  LUC7L3  |  DISEASES
718  |  C3  |  DISEASES
5199  |  CFP  |  DISEASES
10875  |  FGL2  |  DISEASES
53947  |  A4GALT  |  DISEASES
2056  |  EPO  |  DISEASES
10343  |  PKDREJ  |  DISEASES
1401  |  CRP  |  DISEASES
325  |  APCS  |  DISEASES
4608  |  MYBPH  |  DISEASES
81494  |  CFHR5  |  DISEASES
3569  |  IL6  |  DISEASES
3364  |  HUS1  |  DISEASES
9982  |  FGFBP1  |  DISEASES
7057  |  THBS1  |  DISEASES
7450  |  VWF  |  DISEASES
5687  |  PSMA6  |  DISEASES
54825  |  CDHR2  |  DISEASES
5939  |  RBMS2  |  DISEASES
3674  |  ITGA2B  |  DISEASES
2901  |  GRIK5  |  DISEASES
23523  |  CABIN1  |  DISEASES
55686  |  MREG  |  DISEASES
3553  |  IL1B  |  DISEASES
6403  |  SELP  |  DISEASES
55850  |  USE1  |  DISEASES
4552  |  MTRR  |  DISEASES
26273  |  FBXO3  |  DISEASES
3263  |  HPX  |  DISEASES
8128  |  ST8SIA2  |  DISEASES
5972  |  REN  |  DISEASES
3934  |  LCN2  |  DISEASES
710  |  SERPING1  |  DISEASES
5805  |  PTS  |  DISEASES
84539  |  MCHR2  |  DISEASES
8526  |  DGKE  |  DISEASES
1636  |  ACE  |  DISEASES
5739  |  PTGIR  |  DISEASES
58191  |  CXCL16  |  DISEASES
5937  |  RBMS1  |  DISEASES
51127  |  TRIM17  |  DISEASES
213  |  ALB  |  DISEASES
5473  |  PPBP  |  DISEASES
327  |  APEH  |  DISEASES
717  |  C2  |  DISEASES
27249  |  MMADHC  |  DISEASES
719  |  C3AR1  |  DISEASES
7399  |  USH2A  |  DISEASES
81851  |  KRTAP1-1  |  DISEASES
2244  |  FGB  |  DISEASES
2243  |  FGA  |  DISEASES
160065  |  PATE1  |  DISEASES
2147  |  F2  |  DISEASES
5340  |  PLG  |  DISEASES
4179  |  CD46  |  DISEASES
5062  |  PAK2  |  DISEASES
3078  |  CFHR1  |  DISEASES
5187  |  PER1  |  DISEASES
1604  |  CD55  |  DISEASES
53347  |  UBASH3A  |  DISEASES
10938  |  EHD1  |  DISEASES
5345  |  SERPINF2  |  DISEASES
8706  |  B3GALNT1  |  DISEASES
4191  |  MDH2  |  DISEASES
25834  |  MGAT4C  |  DISEASES
6401  |  SELE  |  DISEASES
2152  |  F3  |  DISEASES
2266  |  FGG  |  DISEASES
78989  |  COLEC11  |  DISEASES
445329  |  SULT1A4  |  DISEASES
966  |  CD59  |  DISEASES
25870  |  SUMF2  |  DISEASES
6818  |  SULT1A3  |  DISEASES
28986  |  MAGEH1  |  DISEASES
545  |  ATR  |  DISEASES
23481  |  PES1  |  DISEASES
133584  |  EGFLAM  |  DISEASES
728  |  C5AR1  |  DISEASES
3240  |  HP  |  DISEASES
6288  |  SAA1  |  DISEASES
5826  |  ABCD4  |  DISEASES
2157  |  F8  |  DISEASES
4311  |  MME  |  DISEASES
4548  |  MTR  |  DISEASES
1378  |  CR1  |  DISEASES
25902  |  MTHFD1L  |  DISEASES
3080  |  CFHR2  |  DISEASES
10877  |  CFHR4  |  DISEASES
10878  |  CFHR3  |  DISEASES
3075  |  CFH  |  DISEASES
462  |  SERPINC1  |  DISEASES
537  |  ATP6AP1  |  DISEASES
2010  |  EMD  |  DISEASES
55788  |  LMBRD1  |  DISEASES
959  |  CD40LG  |  DISEASES
3725  |  JUN  |  DISEASES
84871  |  AGBL4  |  DISEASES
11093  |  ADAMTS13  |  DISEASES
8438  |  RAD54L  |  DISEASES
2889  |  RAPGEF1  |  DISEASES
5476  |  CTSA  |  DISEASES
310  |  ANXA7  |  DISEASES
4153  |  MBL2  |  DISEASES
7357  |  UGCG  |  DISEASES
2582  |  GALE  |  DISEASES
1471  |  CST3  |  DISEASES
7056  |  THBD  |  DISEASES
83715  |  ESPN  |  DISEASES
644096  |  SDHAF1  |  DISEASES
4868  |  NPHS1  |  DISEASES
5251  |  PHEX  |  DISEASES
1906  |  EDN1  |  DISEASES
3030  |  HADHA  |  DISEASES
9467  |  SH3BP5  |  DISEASES
2054  |  STX2  |  DISEASES
3426  |  CFI  |  DISEASES
2319  |  FLOT2  |  DISEASES
1198  |  CLK3  |  DISEASES
2919  |  CXCL1  |  DISEASES
100134934  |  TEN1  |  DISEASES
25974  |  MMACHC  |  DISEASES
644150  |  WIPF3  |  DISEASES
8705  |  B3GALT4  |  DISEASES
56616  |  DIABLO  |  DISEASES
7124  |  TNF  |  DISEASES
9278  |  ZBTB22  |  DISEASES
3586  |  IL10  |  DISEASES
54475  |  NLE1  |  DISEASES
721  |  C4B  |  DISEASES
629  |  CFB  |  DISEASES
51428  |  DDX41  |  DISEASES
284  |  ANGPT1  |  DISEASES
6188  |  RPS3  |  DISEASES
84000  |  TMPRSS13  |  DISEASES
83742  |  MARVELD1  |  DISEASES
3684  |  ITGAM  |  DISEASES
4522  |  MTHFD1  |  DISEASES
10490  |  VTI1B  |  DISEASES
7090  |  TLE3  |  DISEASES
7732  |  RNF112  |  DISEASES
283165  |  KIRREL3-AS3  |  DISEASES
Locus(Waiting for update.)
Disease ID 175
Disease hemolytic-uremic syndrome
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:34)
HP:0000083  |  Renal insufficiency  |  10
HP:0002583  |  Colitis  |  10
HP:0001919  |  Acute renal failure  |  8
HP:0002014  |  Diarrhea  |  7
HP:0001298  |  Encephalopathy  |  3
HP:0002573  |  Bloody diarrhea  |  3
HP:0000112  |  Nephropathy  |  2
HP:0000822  |  Hypertension  |  2
HP:0002149  |  Hyperuricemia  |  2
HP:0001635  |  Congestive heart failure  |  2
HP:0006846  |  Acute encephalopathy  |  2
HP:0001903  |  Anemia  |  2
HP:0002315  |  Headaches  |  1
HP:0001873  |  Low platelet count  |  1
HP:0012125  |  Prostate cancer  |  1
HP:0100033  |  Tic disorder  |  1
HP:0001945  |  Fever  |  1
HP:0100758  |  Gangrene  |  1
HP:0002586  |  Peritonitis  |  1
HP:0001896  |  Reticulocytopenia  |  1
HP:0001250  |  Seizures  |  1
HP:0000541  |  Detached retina  |  1
HP:0002721  |  Immunodeficiency  |  1
HP:0001944  |  Dehydration  |  1
HP:0100806  |  Sepsis  |  1
HP:0001878  |  Haemolytic anaemia  |  1
HP:0002090  |  Pneumonia  |  1
HP:0001289  |  Confusion  |  1
HP:0000099  |  Glomerular nephritis  |  1
HP:0000793  |  Membranoproliferative glomerulonephritis  |  1
HP:0007917  |  Tractional retinal detachment  |  1
HP:0000979  |  Purpura  |  1
HP:0100820  |  Glomerulopathy  |  1
HP:0002352  |  Leukoencephalopathy  |  1
Disease ID 175
Disease hemolytic-uremic syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:17)
C2364133  |  infection
C1963084  |  colitis
C0577708  |  escherichia coli urinary tract infection
C0521610  |  emphysematous cholecystitis
C0476273  |  respiratory distress
C0342723  |  cobalamin c disease
C0238106  |  clostridium difficile colitis
C0151565  |  hemorrhagic colitis
C0038454  |  strokes
C0038454  |  stroke
C0034888  |  rectal prolapse
C0024588  |  malignant hypertension
C0022660  |  acute renal failure
C0014836  |  escherichia coli infections
C0014836  |  escherichia coli infection
C0014335  |  enteritis
C0013384  |  abnormal movements
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:9)
C0035078  |  renal failure  |  9
C0009319  |  colitis  |  5
C0022660  |  acute renal failure  |  4
C0151594  |  bloody diarrhea  |  3
C0151565  |  hemorrhagic colitis  |  3
C0009450  |  infection  |  2
C0017662  |  membranoproliferative glomerulonephritis  |  1
C0022656  |  renal cortical necrosis  |  1
C0398777  |  complement factor h deficiency  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:1)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121913060172299163075CFHumls:C0019061BeFreeHemolytic uremic syndrome: a factor H mutation (E1172Stop) causes defective complement control at the surface of endothelial cells.0.0600992392007CFH1196747131GT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:20)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0019061ampicillinD00066769-53-4hemolytic-uremic syndromeMESH:D006463marker/mechanism2306432
C0019061bleomycinD00176111056-06-7hemolytic-uremic syndromeMESH:D006463marker/mechanism10435899
C0019061ciprofloxacinD00293985721-33-1hemolytic-uremic syndromeMESH:D006463marker/mechanism12022900
C0019061cyclosporineD01657259865-13-3hemolytic-uremic syndromeMESH:D006463marker/mechanism11140243
C0019061cisplatinD00294515663-27-1hemolytic-uremic syndromeMESH:D006463marker/mechanism10435899
C0019061cisplatinD00294515663-27-1hemolytic-uremic syndromeMESH:D006463therapeutic1699855
C0019061epirubicinD01525156420-45-2hemolytic-uremic syndromeMESH:D006463marker/mechanism9572663
C0019061erythromycinD004917114-07-8hemolytic-uremic syndromeMESH:D006463marker/mechanism20813025
C0019061everolimusD000068338-hemolytic-uremic syndromeMESH:D006463marker/mechanism17951952
C0019061fluorouracilD00547251-21-8hemolytic-uremic syndromeMESH:D006463marker/mechanism12119460
C0019061leucovorinD0029551958/5/9hemolytic-uremic syndromeMESH:D006463marker/mechanism12119460
C0019061gemcitabineC056507103882-84-4hemolytic-uremic syndromeMESH:D006463marker/mechanism10528696
C0019061mitomycinD0166851950/7/7hemolytic-uremic syndromeMESH:D006463marker/mechanism10178695
C0019061quinineD011803130-95-0hemolytic-uremic syndromeMESH:D006463marker/mechanism10923967
C0019061sirolimusD02012353123-88-9hemolytic-uremic syndromeMESH:D006463marker/mechanism15625544
C0019061tacrolimusD016559109581-93-3hemolytic-uremic syndromeMESH:D006463marker/mechanism10328486
C0019061ticlopidineD01398855142-85-3hemolytic-uremic syndromeMESH:D006463marker/mechanism11604563
C0019061vinblastineD014747865-21-4hemolytic-uremic syndromeMESH:D006463marker/mechanism7679450
C0019061vincristineD014750-hemolytic-uremic syndromeMESH:D006463marker/mechanism11037870
C0019061vincristineD014750-hemolytic-uremic syndromeMESH:D006463therapeutic6846975
FDA approved drug and dosage information(Total Drugs:5)
DiseaseID Drug_name active_ingredients strength Dosage Form/Route Marketing Status TE code RLD RS
MESH:D006463ciprociprofloxacin400MG/40ML (10MG/ML)INJECTABLE;INJECTIONDiscontinuedNoneYesNo
MESH:D006463ciprociprofloxacin250MG/5MLFOR SUSPENSION;ORALPrescriptionABYesNo
MESH:D006463rapamunesirolimus1MG/MLSOLUTION;ORALPrescriptionNoneYesYes
MESH:D006463rapamunesirolimus1MGTABLET;ORALPrescriptionABYesNo
MESH:D006463afinitoreverolimus5MGTABLET;ORALPrescriptionNoneYesNo
FDA labeling changes(Total Drugs:5)
DiseaseID Pediatric_Labeling_Date Trade_Name Generic_Name_or_Proper_Name Indications Studied Label Changes Summary Product Labeling BPCA(B) PREA(P) BPCA(B) and PREA(P) Pediatric Rule (R) Sponsor Pediatric Exclusivity Granted Date NNPS
MESH:D00646303/25/2004ciprociprofloxacinComplicated UTI and pyelonephritisIndicated for the treatment of complicated urinary tract infections (cUTIs) and pyelonephritis in pediatric patients 1  17 years of age Not drug of first choice due to increased adverse events compared to controls including events related to joints and/or surrounding tissues Information on PK and dose in pediatric patients 1  17 years of age The most frequent adverse events observed within 6 weeks of treatment initiation during the cUTI clinical trial were gastrointestinal 15% compared to 9% and musculoskeletal 9.3% compared to 6% in ciprofloxacin-treated compared to control-treated patients, respectivelyLabelingB---Bayer12/18/2003FALSE'
MESH:D00646303/25/2004ciprociprofloxacinComplicated UTI and pyelonephritisIndicated for the treatment of complicated urinary tract infections (cUTIs) and pyelonephritis in pediatric patients 1  17 years of age Not drug of first choice due to increased adverse events compared to controls including events related to joints and/or surrounding tissues Information on PK and dose in pediatric patients 1  17 years of age The most frequent adverse events observed within 6 weeks of treatment initiation during the cUTI clinical trial were gastrointestinal 15% compared to 9% and musculoskeletal 9.3% compared to 6% in ciprofloxacin-treated compared to control-treated patients, respectivelyLabelingB---Bayer12/18/2003FALSE'
MESH:D00646311/3/2005rapamunesirolimusProphylaxis of organ rejection in patients undergoing renal transplantsSafety and efficacy established in children 13 years or older judged to be at low to moderate immunologic risk Safety was assessed in a controlled clinical trial in pediatric (LabelingB---Wyeth11/17/2004FALSE'
MESH:D00646311/3/2005rapamunesirolimusProphylaxis of organ rejection in patients undergoing renal transplantsSafety and efficacy established in children 13 years or older judged to be at low to moderate immunologic risk Safety was assessed in a controlled clinical trial in pediatric (LabelingB---Wyeth11/17/2004FALSE'
MESH:D00646310/29/2010afinitoreverolimusTreatment of patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosisApproved for treatment of patients with SEGA associated with TS An open-label, single-arm safety and efficacy trial was conducted in 28 patients 3-34 years with SEGA associated with TS Afinitor has not been studied in patients with SEGA < 3 years of ageMost common adverse reactions (incidence e30%) were stomatitis, upper respiratory tract infection, sinusitis, otitis media, and pyrexiaDose reduction and/or treatment interruption may be needed to manage adverse drug reactions Information on starting dose, therapeutic drug monitoring, clinical trial, and adverse reactions New indicationLabelingB---Novartis-FALSE'