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	hemolytic-uremic syndrome

Disease ID	468
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	DOID:12554
ICD10	ICD10CM:D59.3
UMLS	C0019061
MeSH	D006463
SNOMED-CT	SNOMEDCT_US_2016_09_01:111407006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:55) C0009319 \| colitis \| 12 C0035078 \| renal failure \| 8 C0011991 \| diarrhea \| 5 C0032285 \| pneumoniae \| 4 C0035078 \| kidney failure \| 4 C0155765 \| microangiopathy \| 4 C0024537 \| vivax malaria \| 3 C0022660 \| acute renal failure \| 3 C0740394 \| hyperuricemia \| 2 C0022660 \| acute kidney failure \| 2 C0020538 \| hypertension \| 2 C0024530 \| malaria \| 2 C0022658 \| nephropathy \| 2 C0024537 \| plasmodium vivax malaria \| 2 C0032269 \| streptococcus pneumoniae infection \| 2 C0006017 \| pertussis \| 2 C0018801 \| heart failure \| 2 C0021400 \| influenza \| 2 C0006017 \| bordetella pertussis \| 2 C0002871 \| anemia \| 2 C0022656 \| renal cortical necrosis \| 1 C0270612 \| leukoencephalopathy \| 1 C0027051 \| myocardial infarction \| 1 C0017662 \| membranoproliferative glomerulonephritis \| 1 C0034155 \| thrombotic thrombocytopenic purpura \| 1 C0034150 \| purpura \| 1 C0020540 \| accelerated hypertension \| 1 C0376358 \| prostate cancer \| 1 C0027051 \| myocardial infarct \| 1 C0031154 \| peritonitis \| 1 C0002878 \| hemolytic anemia \| 1 C0017658 \| glomerulonephritis \| 1 C0235618 \| proliferative glomerulonephritis \| 1 C0009447 \| common variable immunodeficiency \| 1 C0024535 \| falciparum malaria \| 1 C0023443 \| hairy cell leukaemia \| 1 C1135191 \| systolic heart failure \| 1 C0042769 \| viral infection \| 1 C0042373 \| angiopathy \| 1 C0343386 \| clostridium difficile infection \| 1 C0021845 \| bowel perforation \| 1 C0023449 \| acute lymphoblastic leukaemia \| 1 C0017661 \| iga nephropathy \| 1 C0022658 \| kidney disease \| 1 C0040188 \| tic disorders \| 1 C0011991 \| diarrhoea \| 1 C0023418 \| leukaemia \| 1 C0022661 \| end-stage kidney disease \| 1 C0025162 \| toxic megacolon \| 1 C1136085 \| monoclonal gammopathy \| 1 C0751967 \| relapsing-remitting multiple sclerosis \| 1 C0035305 \| retinal detachment \| 1 C0178238 \| intestinal infection \| 1 C0403529 \| pulmonary-renal syndrome \| 1 C0021845 \| intestinal perforation \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) 213 \| ALB \| CTD_human 7124 \| TNF \| CTD_human 3553 \| IL1B \| CTD_human 3552 \| IL1A \| CTD_human 718 \| C3 \| UniProtKB-KW 3569 \| IL6 \| CTD_human 7056 \| THBD \| UniProtKB-KW 3426 \| CFI \| UniProtKB-KW 629 \| CFB \| UniProtKB-KW 2056 \| EPO \| CTD_human 4179 \| CD46 \| UniProtKB-KW 3075 \| CFH \| UniProtKB-KW 1728 \| NQO1 \| CTD_human 8526 \| DGKE \| UniProtKB-KW 81494 \| CFHR5 \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:25) 4179 \| CD46 \| CIPHER 3075 \| CFH \| CIPHER 81494 \| CFHR5 \| CIPHER 3426 \| CFI \| CIPHER 1636 \| ACE \| CIPHER 183 \| AGT \| CIPHER 185 \| AGTR1 \| CIPHER 624 \| BDKRB2 \| CIPHER 9607 \| CARTPT \| CIPHER 3078 \| CFHR1 \| CIPHER 2147 \| F2 \| CIPHER 2153 \| F5 \| CIPHER 2811 \| GP1BA \| CIPHER 3673 \| ITGA2 \| CIPHER 3690 \| ITGB3 \| CIPHER 4524 \| MTHFR \| CIPHER 5054 \| SERPINE1 \| CIPHER 7056 \| THBD \| CIPHER 2056 \| EPO \| CTD_human 7124 \| TNF \| CTD_human 213 \| ALB \| CTD_human 3553 \| IL1B \| CTD_human 1728 \| NQO1 \| CTD_human 3569 \| IL6 \| CTD_human 3552 \| IL1A \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:81) 5826 \| ABCD4 \| 1.102 \| DISEASES 11093 \| ADAMTS13 \| 6.452 \| DISEASES 84871 \| AGBL4 \| 1.835 \| DISEASES 284 \| ANGPT1 \| 1.035 \| DISEASES 310 \| ANXA7 \| 1.061 \| DISEASES 537 \| ATP6AP1 \| 1.304 \| DISEASES 545 \| ATR \| 1.996 \| DISEASES 8706 \| B3GALNT1 \| 3.355 \| DISEASES 8705 \| B3GALT4 \| 2.574 \| DISEASES 721 \| C4B \| 3.638 \| DISEASES 728 \| C5AR1 \| 1.501 \| DISEASES 959 \| CD40LG \| 3.128 \| DISEASES 966 \| CD59 \| 2.499 \| DISEASES 629 \| CFB \| 4.713 \| DISEASES 3075 \| CFH \| 6.771 \| DISEASES 3080 \| CFHR2 \| 3.116 \| DISEASES 10878 \| CFHR3 \| 5.502 \| DISEASES 10877 \| CFHR4 \| 3.849 \| DISEASES 3426 \| CFI \| 5.684 \| DISEASES 1198 \| CLK3 \| 1.778 \| DISEASES 78989 \| COLEC11 \| 1.734 \| DISEASES 1378 \| CR1 \| 1.681 \| DISEASES 1471 \| CST3 \| 1.186 \| DISEASES 5476 \| CTSA \| 1.641 \| DISEASES 2919 \| CXCL1 \| 1.293 \| DISEASES 51428 \| DDX41 \| 1.593 \| DISEASES 56616 \| DIABLO \| 2.764 \| DISEASES 1906 \| EDN1 \| 1.118 \| DISEASES 133584 \| EGFLAM \| 1.372 \| DISEASES 10938 \| EHD1 \| 1.646 \| DISEASES 2010 \| EMD \| 1.336 \| DISEASES 83715 \| ESPN \| 2.552 \| DISEASES 2152 \| F3 \| 3.267 \| DISEASES 2157 \| F8 \| 1.466 \| DISEASES 2266 \| FGG \| 2.596 \| DISEASES 2319 \| FLOT2 \| 1.824 \| DISEASES 2582 \| GALE \| 2.176 \| DISEASES 3030 \| HADHA \| 3.054 \| DISEASES 3240 \| HP \| 3.677 \| DISEASES 3586 \| IL10 \| 1.443 \| DISEASES 3684 \| ITGAM \| 1.207 \| DISEASES 3725 \| JUN \| 1.08 \| DISEASES 283165 \| KIRREL3-AS3 \| 2.992 \| DISEASES 55788 \| LMBRD1 \| 1.32 \| DISEASES 28986 \| MAGEH1 \| 1.115 \| DISEASES 83742 \| MARVELD1 \| 1.046 \| DISEASES 4153 \| MBL2 \| 1.984 \| DISEASES 4191 \| MDH2 \| 1.111 \| DISEASES 25834 \| MGAT4C \| 1.856 \| DISEASES 25974 \| MMACHC \| 2.859 \| DISEASES 4311 \| MME \| 1.239 \| DISEASES 4522 \| MTHFD1 \| 2.361 \| DISEASES 25902 \| MTHFD1L \| 1.511 \| DISEASES 4548 \| MTR \| 1.014 \| DISEASES 54475 \| NLE1 \| 1.909 \| DISEASES 4868 \| NPHS1 \| 1.879 \| DISEASES 23481 \| PES1 \| 2.446 \| DISEASES 5251 \| PHEX \| 2.058 \| DISEASES 8438 \| RAD54L \| 1.242 \| DISEASES 2889 \| RAPGEF1 \| 3.346 \| DISEASES 7732 \| RNF112 \| 2.483 \| DISEASES 6188 \| RPS3 \| 1.227 \| DISEASES 6288 \| SAA1 \| 3.449 \| DISEASES 644096 \| SDHAF1 \| 1.606 \| DISEASES 6401 \| SELE \| 1.801 \| DISEASES 462 \| SERPINC1 \| 2.524 \| DISEASES 5345 \| SERPINF2 \| 1.733 \| DISEASES 9467 \| SH3BP5 \| 1.17 \| DISEASES 2054 \| STX2 \| 7.974 \| DISEASES 6818 \| SULT1A3 \| 1.713 \| DISEASES 445329 \| SULT1A4 \| 1.738 \| DISEASES 25870 \| SUMF2 \| 4.076 \| DISEASES 100134934 \| TEN1 \| 1.078 \| DISEASES 7056 \| THBD \| 4.491 \| DISEASES 7090 \| TLE3 \| 1.207 \| DISEASES 84000 \| TMPRSS13 \| 1.079 \| DISEASES 7124 \| TNF \| 2.96 \| DISEASES 7357 \| UGCG \| 1.85 \| DISEASES 10490 \| VTI1B \| 1.434 \| DISEASES 644150 \| WIPF3 \| 1.654 \| DISEASES 9278 \| ZBTB22 \| 1.219 \| DISEASES
Locus	(Waiting for update.)

Disease ID	468
Disease	hemolytic-uremic syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:32) HP:0002583 \| Colitis \| 9 HP:0000083 \| Renal insufficiency \| 8 HP:0001919 \| Acute renal failure \| 6 HP:0002014 \| Diarrhea \| 5 HP:0001298 \| Encephalopathy \| 3 HP:0002149 \| Hyperuricemia \| 2 HP:0001903 \| Anemia \| 2 HP:0001635 \| Congestive heart failure \| 2 HP:0000822 \| Hypertension \| 2 HP:0002573 \| Bloody diarrhea \| 2 HP:0000112 \| Nephropathy \| 2 HP:0006846 \| Acute encephalopathy \| 2 HP:0012125 \| Prostate cancer \| 1 HP:0100758 \| Gangrene \| 1 HP:0001289 \| Confusion \| 1 HP:0001944 \| Dehydration \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0001250 \| Seizures \| 1 HP:0001945 \| Fever \| 1 HP:0002315 \| Headaches \| 1 HP:0000793 \| Membranoproliferative glomerulonephritis \| 1 HP:0002586 \| Peritonitis \| 1 HP:0001878 \| Haemolytic anaemia \| 1 HP:0002352 \| Leukoencephalopathy \| 1 HP:0000099 \| Glomerular nephritis \| 1 HP:0007917 \| Tractional retinal detachment \| 1 HP:0100033 \| Tic disorder \| 1 HP:0000541 \| Detached retina \| 1 HP:0000979 \| Purpura \| 1 HP:0100806 \| Sepsis \| 1 HP:0001873 \| Low platelet count \| 1 HP:0001896 \| Reticulocytopenia \| 1

Disease ID	468
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 \| 7 C0009319 \| colitis \| 5 C0151565 \| hemorrhagic colitis \| 3 C0022660 \| acute renal failure \| 2 C0151594 \| bloody diarrhea \| 2 C0398777 \| complement factor h deficiency \| 1 C0009450 \| infection \| 1 C0022656 \| renal cortical necrosis \| 1 C0017662 \| membranoproliferative glomerulonephritis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total 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
rs121913060	17229916	3075	CFH	umls:C0019061	BeFree	Hemolytic uremic syndrome: a factor H mutation (E1172Stop) causes defective complement control at the surface of endothelial cells.	0.060099239	2007	CFH	1	196747131	G	T

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.)

Disease ID	468
Disease	hemolytic-uremic syndrome
Case	(Waiting for update.)

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