Hemolytic-Uremic Syndrome (HUS)

Categories: Blood diseases, Immune diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hemolytic-Uremic Syndrome

MalaCards integrated aliases for Hemolytic-Uremic Syndrome:

Name: Hemolytic-Uremic Syndrome 12 73 29 54 6 44 15 70
Hemolytic Uremic Syndrome 12 20 58
Haemolytic-Uraemic Syndrome 12 32
Hus 20 58
Acute Renal Failure, Thrombocytopenia, and Microangiopathic Hemolytic Anemia Associated with Distorted Erythrocytes 20


Orphanet: 58  
Rare renal diseases

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Disease Ontology 12 DOID:12554
ICD9CM 34 283.11
MeSH 44 D006463
NCIt 50 C75545
SNOMED-CT 67 123308008
ICD10 32 D59.3
Orphanet 58 ORPHA544458
UMLS 70 C0019061

Summaries for Hemolytic-Uremic Syndrome

GARD : 20 Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. Symptoms include vomiting and diarrhea, fever, lethargy, and weakness. In severe cases it can lead to kidney failure or death. While this condition is most common in children, it often has a more complicated presentation in adults. Treatment may include dialysis, corticosteroids, transfusions of packed red blood cells and plasmapheresis. Hemolytic uremic syndrome should be distinguished from atypical hemolytic uremic syndrome (aHUS). The two conditions have different causes and different signs and symptoms.

MalaCards based summary : Hemolytic-Uremic Syndrome, also known as hemolytic uremic syndrome, is related to nephrotic syndrome, type 7 and complement factor h deficiency. An important gene associated with Hemolytic-Uremic Syndrome is DGKE (Diacylglycerol Kinase Epsilon), and among its related pathways/superpathways are Immune response Lectin induced complement pathway and Formation of Fibrin Clot (Clotting Cascade). The drugs Epoetin alfa and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and bone, and related phenotypes are homeostasis/metabolism and cardiovascular system

Disease Ontology : 12 A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.

Wikipedia : 73 Hemolytic-uremic syndrome (HUS) is a group of blood disorders characterized by low red blood cells,... more...

Related Diseases for Hemolytic-Uremic Syndrome

Diseases in the Hemolytic-Uremic Syndrome family:

D-Plus Hemolytic Uremic Syndrome

Diseases related to Hemolytic-Uremic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 604)
# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome, type 7 33.1 DGKE CFH
2 complement factor h deficiency 32.3 CFI CFHR1 CFH CD46
3 acute kidney failure 32.0 HP CFH ADAMTS13
4 atypical hemolytic uremic syndrome with complement gene abnormality 32.0 THBD CFI CFH CFB CD46 C3
5 purpura 31.8 VWF THBD F3 C3 ADAMTS13
6 genetic atypical hemolytic-uremic syndrome 31.6 THBD DGKE CFI CFHR5 CFHR4 CFHR3
7 thrombotic microangiopathy 31.6 VWF THBD HP F3 ADAMTS13
8 anuria 31.4 HP F3 ADAMTS13
9 glomerulonephritis 31.4 CFI CFHR5 CFH CD46 C3
10 end stage renal disease 31.3 THBD CFHR5 CFHR3 CFHR1 CFH CD46
11 enterocolitis 31.3 CFH CFB CD46 C3
12 iga glomerulonephritis 31.0 CFHR2 CFH C3
13 disseminated intravascular coagulation 31.0 VWF THBD PLG F3 ADAMTS13
14 thrombotic thrombocytopenic purpura 31.0 CFI CFH CD46 C3 ADAMTS13 VWF
15 kidney disease 31.0 THBD HP F3 CFHR5 CFH C3
16 meningitis 30.9 CFI CD46 C3
17 kidney cortex necrosis 30.9 PLG MMACHC CFI ADAMTS13
18 malignant hypertension 30.9 VWF THBD CFHR2 CFH ADAMTS13
19 pneumococcal meningitis 30.9 C5 C3
20 thrombotic thrombocytopenic purpura, hereditary 30.8 HP CFH ADAMTS13
21 methylmalonic acidemia 30.8 MMACHC DGKE CFHR2 CFH ADAMTS13
22 severe pre-eclampsia 30.8 CFH CFB C5 C3
23 hemopericardium 30.7 PLG F3
24 thrombophilia 30.7 VWF THBD F3
25 neisseria meningitidis infection 30.7 CD46 C3
26 nephrotic syndrome 30.7 PLG HP F3 DGKE C3
27 membranoproliferative glomerulonephritis 30.6 DGKE CFHR5 CFHR2 CFH CFB CD46
28 complement factor i deficiency 30.5 CFI C3
29 catastrophic antiphospholipid syndrome 30.5 F3 CFH ADAMTS13
30 methylmalonic aciduria and homocystinuria, cblc type 30.5 MMACHC DGKE CFH CFB ADAMTS13
31 hypertensive retinopathy 30.5 VWF ADAMTS13
32 hemolytic uremic syndrome, atypical 1 30.4 VWF THBD MMACHC HP F3 DGKE
33 hemoglobinuria 30.4 THBD HP CFI C5 C3
34 macular degeneration, age-related, 4 30.4 CFH CFB
35 homocysteinemia 30.4 VWF THBD MMACHC
36 chronic kidney disease 30.4 THBD HP F3 CFI CFHR5 CFHR1
37 hemolytic anemia 30.3 VWF THBD HP F3 DGKE CFI
38 deficiency anemia 30.3 PLG HP CFHR2 CFH ADAMTS13
39 c3 glomerulopathy 30.3 DGKE CFI CFHR5 CFHR3 CFHR2 CFHR1
40 antiphospholipid syndrome 30.3 VWF THBD F3 CFH C3 ADAMTS13
41 immune-complex glomerulonephritis 30.3 CFI CFHR2 C3
42 von willebrand's disease 30.2 VWF F3 ADAMTS13
43 branch retinal artery occlusion 30.2 PLG F3
44 paroxysmal nocturnal hemoglobinuria 30.2 THBD HP CFI C5 C3
45 hepatic veno-occlusive disease 30.2 THBD PLG F3
46 hellp syndrome 30.2 VWF THBD HP F3 CFI CFH
47 complement component 5 deficiency 30.1 CFHR2 CD46 C5 C3
48 intermediate coronary syndrome 30.1 VWF PLG F3
49 acute poststreptococcal glomerulonephritis 30.1 PLG CFHR5 CFHR2 C5 C3
50 pulmonary embolism 30.1 VWF THBD F3

Comorbidity relations with Hemolytic-Uremic Syndrome via Phenotypic Disease Network (PDN):

Acute Kidney Failure Chronic Kidney Disease
Deficiency Anemia Heart Disease

Graphical network of the top 20 diseases related to Hemolytic-Uremic Syndrome:

Diseases related to Hemolytic-Uremic Syndrome

Symptoms & Phenotypes for Hemolytic-Uremic Syndrome

MGI Mouse Phenotypes related to Hemolytic-Uremic Syndrome:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 ADAMTS13 C3 C5 CFB CFH CFI
2 cardiovascular system MP:0005385 9.96 C3 CD46 CFB CFH F3 HP
3 immune system MP:0005387 9.73 ADAMTS13 C3 C5 CFB CFH CFI
4 renal/urinary system MP:0005367 9.28 C3 C5 CFB CFH CFI HP

Drugs & Therapeutics for Hemolytic-Uremic Syndrome

Drugs for Hemolytic-Uremic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Epoetin alfa Phase 4 113427-24-0
2 Hematinics Phase 4
Ravulizumab Approved, Investigational Phase 3 1803171-55-2
4 Complement System Proteins Phase 2, Phase 3
5 Immunologic Factors Phase 3
6 Immunosuppressive Agents Phase 3
7 Shiga Toxins Phase 2, Phase 3
8 Pharmaceutical Solutions Phase 2, Phase 3
9 Antibodies Phase 2, Phase 3
10 Immunoglobulins Phase 2, Phase 3
11 Immunoglobulins, Intravenous Phase 2, Phase 3
Acetaminophen Approved Phase 2 103-90-2 1983
Promethazine Approved, Investigational Phase 2 60-87-7 4927
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
rituximab Approved Phase 2 174722-31-7 10201696
17 Antineoplastic Agents, Immunological Phase 2
18 Antirheumatic Agents Phase 2
19 Androgen Receptor Antagonists Phase 2
Metoclopramide Approved, Investigational 364-62-5 4168
dipyrone 522325
22 Immunotoxin HA22

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Multicentric, Prospective Open-label Study Assessing an Algorithm-based Strategy of Eculizumab Discontinuation in Children and Adults With Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT02574403 Phase 4 eculizumab
2 Effect of Erythropoietin on Red Blood Cell Requirement in Children With Hemolytic Uremic Syndrome: a Randomized Controlled Trial Completed NCT03776851 Phase 4 erythropoietin
3 A Phase 3 Study to Evaluate the Safety and Efficacy of OMS721 for the Treatment of Atypical Hemolytic Uremic Syndrome (aHUS) in Adults and Adolescents Unknown status NCT03205995 Phase 3
4 Early Treatment With the Monoclonal C5 Antibody Eculizumab in Pediatric Patients Affected by Shiga-toxin Related Hemolytic and Uremic Syndrome: A Phase III Prospective Randomized Controlled Therapeutic Trial Versus Placebo Completed NCT02205541 Phase 3 Eculizumab;Placebo
5 An Open-Label, Multi-Center Trial of Eculizumab in Patients With Shiga-Toxin Producing Escherichia Coli Hemolytic-Uremic Syndrome (STEC-HUS) Completed NCT01410916 Phase 2, Phase 3 Eculizumab (Soliris®)
6 CONSERVE: rVA576 (Coversin) Long Term Safety and Efficacy Surveillance Study Recruiting NCT03829449 Phase 3 rVA576 (Coversin)
7 A Phase 3, Open-Label, Multicenter Study of ALXN1210 in Children and Adolescents With Atypical Hemolytic Uremic Syndrome (aHUS) Active, not recruiting NCT03131219 Phase 3
8 Single Arm Study of ALXN1210 in Complement Inhibitor Treatment-naïve Adult and Adolescent Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Active, not recruiting NCT02949128 Phase 3
9 A Double-blind, Placebo-controlled, Adaptive, Phase 2/3 Study to Evaluate the Pharmacokinetics, Safety, and Efficacy of INM004 in Pediatric Patients With Shiga Toxin-positive Bloody Diarrhea for Prevention of Hemolytic Uremic Syndrome Suspended NCT04132375 Phase 2, Phase 3 INM004;Placebo
10 Phase III Randomized Study of SYNSORB Pk in Children With E. Coli-Associated Terminated NCT00004465 Phase 3 SYNSORB Pk;Placebo
11 The Plasma Large-Volume Exchange Randomized Controlled Trial (PLEX-RCT) Withdrawn NCT01433003 Phase 3
12 A Phase II Study Evaluating the Efficacy of Rituximab in the Management of Patients With Relapsed/Refractory Thrombotic Thrombocytopenic Purpura (TTP) - Hemolytic Uremic Syndrome (HUS) Unknown status NCT00531089 Phase 2 Rituximab
13 An Open-label, Multi-center Clinical Trial of Eculizumab in Adult Patients With Atypical Hemolytic-uremic Syndrome Completed NCT01194973 Phase 2 Eculizumab
14 An Open-Label, Multi-Center Clinical Trial of Eculizumab in Pediatric Patients With Atypical Hemolytic-Uremic Syndrome Completed NCT01193348 Phase 2 Eculizumab
15 The Safety and Efficacy of Eculizumab in Japanese Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT01757431 Phase 2 Eculizumab
16 An Open-Label, Multi-Center Controlled Clinical Trial Of Eculizumab in Adolescent Patients With Plasma Therapy-Sensitive Atypical Hemolytic Uremic Syndrome (AHUS) Completed NCT00844428 Phase 2 eculizumab
17 An Open-label, Multi-center Controlled Clinical Trial of Eculizumab in Adult Patients With Plasma Therapy-sensitive Atypical Hemolytic Uremic Syndrome (AHUS) Completed NCT00838513 Phase 2 eculizumab
18 An Open-Label, Multi-Center Controlled Clinical Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Resistant Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT00844844 Phase 2 Eculizumab
19 An Open-Label, Multi-Center Controlled Clinical Trial of Eculizumab in Adult Patients With Plasma Therapy-Resistant Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT00844545 Phase 2 Eculizumab
20 Early Intervention With Eculizumab to Treat Thrombotic Microangiopathy/Atypical Hemolytic Uremic Syndrome (TMA/aHUS)-Associated Multiple Organ Dysfunction Syndrome (MODS) in Hematopoietic Stem Cell Transplant (HCT) Recipients Recruiting NCT03518203 Phase 2 Eculizumab
21 An Open-label Phase 2 Study to Assess the Effect of C5aR Antagonist Therapy by CCX168 Oral Administration on ex Vivo Thrombus Formation and Disease Activity in ESRD Patients With Atypical Hemolytic Uremic Syndrome Terminated NCT02464891 Phase 2 CCX168
22 A Phase 2, Open Label, Multicenter Study of ALN-CC5 Administered Subcutaneously in Adult Patients With Atypical Hemolytic Uremic Syndrome Withdrawn NCT03303313 Phase 2 Cemdisiran
23 A Phase II, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Safety and Efficacy of Cemdisiran (ALN-CC5) Following Withdrawal of Chronic Eculizumab Therapy in Patients With Atypical HUS at High Risk of Recurrence Withdrawn NCT03999840 Phase 2 cemdisiran;Placebos
24 Inpatient Volume Expansion in Children With Shiga Toxin-Producing Escherichia Coli (STEC) Infection to Prevent Hemolytic Uremic Syndrome (HUS) Withdrawn NCT03275792 Phase 1 D5-0.9%NS;Routine home oral rehydration
25 A Observational Study to Determine the Prevalence of Pregnancy-related Thrombotic Thrombocytopenic Purpura and Atypical Haemolytic Uraemic Syndrome in Women Affected by Specific Obstetric Complications Unknown status NCT03605511
26 Complement Activation During Hemodialysis in Atypical Hemolytic Uraemic Syndrome as Underlying Kidney Disease. Unknown status NCT00930423
27 Outcame of Cases With Hemolytic Uremic Syndrome Attending Assiut University Child Hospital Unknown status NCT03690024
28 Study of 'Vascular Competence' Profile and Endothelial Activation in the Hemolytic Uremic Syndrome in Children and Adults Unknown status NCT02904863
29 Outbreak of Hemolytic Uremic Syndrome Linked to Escherichia Coli of Serotype O104:H4 in Bordeaux Urban Area, June 2011: Evaluation of Diagnostic, Prognostic and Pathophysiological Data Completed NCT01406288
30 Haemolytic Uraemic Syndrome in Childhood: Clinical, Cognitive and Psychological Aspects Completed NCT01666548
31 A Retrospective, Observational, Non-interventional Trial to Assess Eculizumab Treatment Effect in Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT01770951
32 A Research Study to Describe the Safety and Efficacy of Eculizumab in Japanese Patients With Atypical Hemolytic Uremic Syndrome (aHUS). An Assessment of Two Case Studies Completed NCT01755429
33 Repetitive Intestinal Lavage Using Polyethylene Glycol Solution in Patients With EHEC O104:H4 Infection During the German 2011 Outbreak for Prevention of Severe Thrombocytopenia With Subsequently Following Therapeutic Plasmapheresis Completed NCT01561248 polyethylene glycol solution for daily bowel lavage.
34 The Role of Endothelium Dysfunction in Progression of CKD (Chronic Kidney Disease) After AKI (Acute Kidney Injury) Completed NCT00358306
35 US Post-Marketing Retrospective Observational Safety Study of Moxetumomab Pasudotox-tdfk (LUMOXITI)(TM) Recruiting NCT04125290
36 Prospective Observational Study of Long-term Pathogenic Treatment of Elizaria® in Patients With Atypical Hemolytic Uremic Syndrome Recruiting NCT04749810 Elizaria®
37 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
38 An Observational, Non-Interventional, Multi-Center, Multi-National Study of Patients With Atypical Hemolytic-Uremic Syndrome (aHUS Registry) Recruiting NCT01522183
39 Eculizumab Use in the Postpartum Period for the Treatment of Pregnancy Associated Atypical Hemolytic Uremic Syndrome: A Case Series Active, not recruiting NCT03574506
40 Usefulness of a Diagnostic Algorithm to Diagnose Thrombotic Microangiopathies in Pregnancy Active, not recruiting NCT03580941
41 Diagnostic and Risk Criteria for Complement Defects in Thrombotic Microangiopathy and Amplifying Conditions, Such as Severe Hypertension: The COMPETE Study. Not yet recruiting NCT04745195
42 An Observational, Multi-Center, Multi-National, Long Term Follow-Up Study of Atypical Hemolytic Uremic Syndrome (aHUS) Patients Treated With Eculizumab in a Prior Clinical Study Terminated NCT01522170
43 Evidence - Evaluation of Potential Predictors of Disease Progression in Patients With aHUS, Including Genetics, Biomarkers and Treatment Terminated NCT02614898
44 An Observational Study of All Forms of Thrombotic Microangiopathy in Pediatric Patients Terminated NCT00593229
45 The Role of Microparticles as a Biomarker in Distinguishing Between Thrombotic Thrombocytopenic Purpura (TTP) and Atypical Hemolytic Uremic Syndrome (aHUS) Withdrawn NCT02626663

Search NIH Clinical Center for Hemolytic-Uremic Syndrome

Cochrane evidence based reviews: hemolytic-uremic syndrome

Genetic Tests for Hemolytic-Uremic Syndrome

Genetic tests related to Hemolytic-Uremic Syndrome:

# Genetic test Affiliating Genes
1 Hemolytic-Uremic Syndrome 29

Anatomical Context for Hemolytic-Uremic Syndrome

MalaCards organs/tissues related to Hemolytic-Uremic Syndrome:

Kidney, Endothelial, Bone, Bone Marrow, Liver, Brain, Pancreas

Publications for Hemolytic-Uremic Syndrome

Articles related to Hemolytic-Uremic Syndrome:

(show top 50) (show all 5985)
# Title Authors PMID Year
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome. 6 61
25854283 2015
Rifaximin does not induce toxin production or phage-mediated lysis of Shiga toxin-producing Escherichia coli. 61 54
17526759 2007
Determination of complement factor H functional polymorphisms (V62I, Y402H, and E936D) using sequence-specific primer PCR and restriction fragment length polymorphisms. 54 61
17022693 2006
Is factor V Leiden a risk factor for thrombotic microangiopathies without severe ADAMTS 13 deficiency? 54 61
16411392 2005
Shear stress and von Willebrand factor in health and disease. 54 61
14631548 2003
Assays of von Willebrand factor-cleaving protease: a test for diagnosis of familial and acquired thrombotic thrombocytopenic purpura. 61 54
11992240 2002
Function of von Willebrand factor in children with diarrhea-associated hemolytic-uremic syndrome (D+ HUS). 61 54
11446662 2001
Hemolytic-uremic syndrome and complement factor H deficiency: clinical aspects. 61 54
11446651 2001
Problems with platelet counting in thrombocytopenia. A rapid manual method to measure low platelet counts. 54 61
11446657 2001
Recurrent and de novo renal disease after kidney transplantation with or without cyclosporine A. 61 54
2024653 1991
The role of von Willebrand factor (vWF) in thrombotic thrombocytopenic purpura (TTP) and the hemolytic-uremic syndrome (HUS). 61 54
2191307 1990
Pregnancy-related atypical hemolytic uremic syndrome with renal, cardiac and obstetric complications and a satisfactory recovery: a case report. 61
33657972 2021
Serum insulin-like growth factor-binding protein 2 levels as an indicator for disease severity in enterohemorrhagic Escherichia coli induced hemolytic uremic syndrome. 61
33641616 2021
Pericardial effusion in anti-complement factor H antibody-associated atypical hemolytic uremic syndrome: two case reports. 61
33386505 2021
Complement activation in children with Streptococcus pneumoniae associated hemolytic uremic syndrome. 61
33538911 2021
Early relapse rate determines further relapse risk: results of a 5-year follow-up study on pediatric CFH-Ab HUS. 61
33025207 2021
Nephrotic syndrome in a 7-year-old girl with atypical hemolytic uremic syndrome relapse: Questions. 61
32666368 2021
Correction to: The long-acting C5 inhibitor, ravulizumab, is efficacious and safe in pediatric patients with atypical hemolytic uremic syndrome previously treated with eculizumab. 61
33296010 2021
Nephrotic syndrome in a 7-year-old girl with atypical hemolytic uremic syndrome relapse: Answers. 61
32666367 2021
The long-acting C5 inhibitor, ravulizumab, is efficacious and safe in pediatric patients with atypical hemolytic uremic syndrome previously treated with eculizumab. 61
33048203 2021
Therapeutic Targeting of the Complement System: From Rare Diseases to Pandemics. 61
33687995 2021
The conserved regulator of autophagy and innate immunity hlh-30/TFEB mediates tolerance of enterohemorrhagic Escherichia coli in Caenorhabditis elegans. 61
33683370 2021
Genomic Characterization of hlyF-positive Shiga Toxin-Producing Escherichia coli, Italy and the Netherlands, 2000-2019. 61
33622476 2021
Preservation of protective capacity of hyperimmune anti-Stx2 bovine colostrum against enterohemorrhagic Escherichia coli O157:H7 pathogenicity after pasteurization and spray-drying processes. 61
33685676 2021
Shiga Toxins: An Update on Host Factors and Biomedical Applications. 61
33803852 2021
Hemoglobinuria for the early identification of STEC-HUS in high-risk children: data from the ItalKid-HUS Network. 61
33759020 2021
EHEC O111:H8 strain and norovirus GII.4 Sydney [P16] causing an outbreak in a daycare center, Brazil, 2019. 61
33781202 2021
Atypical hemolytic uremic syndrome complicating relapsing cryoglobulinemic membranoproliferative glomerulonephritis despite hepatitis C eradication. 61
33730342 2021
Atypical hemolytic uremic syndrome due to DGKE mutation and response to eculizumab: lessons for the clinical nephrologist. 61
33751496 2021
IgM Autoantibodies to Complement Factor H in Atypical Hemolytic Uremic Syndrome. 61
33712527 2021
Outcomes of a clinician-directed protocol for discontinuation of complement inhibition therapy in atypical hemolytic uremic syndrome. 61
33683339 2021
Anti-complement factor H (CFH) antibodies and a novel CFH gene mutation in an atypical hemolytic uremic syndrome patient with complement activation of the classical pathway. 61
33784485 2021
Atypical hemolytic uremic syndrome and acute tubular necrosis induced by complement factor B gene (CFB) mutation: A case report. 61
33725982 2021
Pediatric atypical hemolytic-uremic syndrome due to auto-antibodies against factor H: is there an interest to combine eculizumab and mycophenolate mofetil? 61
33774745 2021
The molecular bases for the association of FHR-1 with atypical hemolytic uremic syndrome and other diseases. 61
33651882 2021
Renal Damage in Recurrent Atypical Hemolytic Uremic Syndrome Associated with C3 p.Ile1157Thr Gene Mutation. 61
33087669 2021
Atypical hemolytic uremic syndrome with C3 mutation: A case report and literature review. 61
33210998 2021
Activated Prothrombin Complex Concentrate-Induced Atypical Hemolytic Uremic Syndrome Treated with Eculizumab. 61
33678802 2021
How I treat microangiopathic hemolytic anemia in patients with cancer. 61
33512445 2021
Antiphospholipid syndrome: Complement activation, complement gene mutations, and therapeutic implications. 61
32881236 2021
Therapeutic plasma exchange: single-center experience in children with kidney disorders. 61
32949283 2021
New Therapeutic Targets and Treatment Options for Thrombotic Microangiopathy: Caplacizumab and Ravulizumab. 61
32715723 2021
Eculizumab exposure in children and young adults: indications, practice patterns, and outcomes-a Pediatric Nephrology Research Consortium study. 61
33693990 2021
Cyclosporine A relieved proteinuria and hypoproteinemia in DGKE nephropathy. 61
33741360 2021
Treatment strategy for Streptococcus pneumoniae-associated hemolytic uremic syndrome. 61
33772368 2021
Hypoalbuminemia: a risk factor in patients with STEC-associated hemolytic uremic syndrome. 61
33712864 2021
Severe Acute Neurologic Involvement in Children With Hemolytic-Uremic Syndrome. 61
33579812 2021
Unexpected diagnosis in a child with hemolytic uremic syndrome: Answers. 61
33730282 2021
Unexpected diagnosis in a child with hemolytic uremic syndrome: Questions. 61
33730283 2021
50 Years Ago in TheJournalofPediatrics: Therapy of Hemolytic Uremic Syndrome, a 50-Year Update. 61
33632396 2021

Variations for Hemolytic-Uremic Syndrome

ClinVar genetic disease variations for Hemolytic-Uremic Syndrome:

# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DGKE NM_003647.3(DGKE):c.888+40A>G SNV Pathogenic 548648 rs1555599211 GRCh37: 17:54925466-54925466
GRCh38: 17:56848105-56848105

Expression for Hemolytic-Uremic Syndrome

Search GEO for disease gene expression data for Hemolytic-Uremic Syndrome.

Pathways for Hemolytic-Uremic Syndrome

Pathways related to Hemolytic-Uremic Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
3 11.78 PLG CFI CFH CFB C5 C3
Show member pathways
Show member pathways
11.53 CFB C5 C3 C2
7 11.46 C5 C3 C2

GO Terms for Hemolytic-Uremic Syndrome

Cellular components related to Hemolytic-Uremic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10 VWF PLG HP CFI CFHR3 CFH
2 cell surface GO:0009986 9.8 THBD PLG F3 CD46 C3 ADAMTS13
3 extracellular space GO:0005615 9.8 VWF THBD PLG HP F3 CFI
4 blood microparticle GO:0072562 9.7 PLG HP CFHR3 CFHR1 CFH CFB
5 extracellular region GO:0005576 9.53 VWF PLG HP F3 CFI CFHR5

Biological processes related to Hemolytic-Uremic Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.98 CFI CFH CFB CD46 C5 C3
2 immune system process GO:0002376 9.97 HP CFI CFH CFB CD46 C5
3 proteolysis GO:0006508 9.95 PLG HP CFI CFB C2 ADAMTS13
4 blood coagulation GO:0007596 9.85 VWF THBD PLG F3 ADAMTS13
5 complement activation, classical pathway GO:0006958 9.8 CFI CD46 C5 C3 C2
6 platelet activation GO:0030168 9.71 VWF DGKE ADAMTS13
7 negative regulation of protein binding GO:0032091 9.69 CFHR5 CFHR2 CFHR1
8 hemostasis GO:0007599 9.65 VWF THBD PLG F3 ADAMTS13
9 complement activation GO:0006956 9.63 CFHR1 CFH CFB C5 C3 C2
10 negative regulation of fibrinolysis GO:0051918 9.52 THBD PLG
11 cytolysis by host of symbiont cells GO:0051838 9.5 CFHR5 CFHR2 CFHR1
12 positive regulation of apoptotic cell clearance GO:2000427 9.49 C3 C2
13 regulation of complement activation GO:0030449 9.36 CFI CFHR5 CFHR4 CFHR2 CFHR1 CFH
14 complement activation, alternative pathway GO:0006957 9.35 CFHR5 CFH CFB C5 C3

Molecular functions related to Hemolytic-Uremic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 VWF THBD PLG MMACHC HP F3
2 peptidase activity GO:0008233 9.55 PLG CFI CFB C2 ADAMTS13
3 serine-type peptidase activity GO:0008236 9.26 PLG CFI CFB C2
4 serine-type endopeptidase activity GO:0004252 9.1 PLG HP F3 CFI CFB C2

Sources for Hemolytic-Uremic Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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