AHUS1
MCID: HML033
MIFTS: 68

Hemolytic Uremic Syndrome, Atypical 1 (AHUS1)

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

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 1

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 1:

Name: Hemolytic Uremic Syndrome, Atypical 1 57
Atypical Hemolytic Uremic Syndrome 20 58 36 29 6 70
Ahus 20 43 58 72
Hemolytic Uremic Syndrome, Atypical, Susceptibility to 57 29 6
Atypical Hemolytic-Uremic Syndrome 12 43 15
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1 57 13
Atypical Hemolytic-Uremic Syndrome 1 29 6
Hemolytic-Uremic Syndrome 72 70
Atypical Hus 20 58
Ahus1 57 72
Hemolytic Uremic Syndrome Associated with Shiga Toxin-Producing Escherichia Coli 58
Atypical Hemolytic Uremic Syndrome with Anti-Factor H Antibodies 58
Atypical Hemolytic Uremic Syndrome with H Factor Anomaly 72
Ahus with Neutralizing Autoantibodies Against Factor H 58
Shiga Toxin-Associated Hemolytic Uremic Syndrome 58
Hemolytic-Uremic Syndrome, Atypical, Type 1 39
Atypical Hus with Anti-Factor H Antibodies 58
Hemolytic-Uremic Syndrome Without Diarrhea 72
Hemolytic Uremic Syndrome with Diarrhea 58
Hemolytic Uremic Syndrome Atypical 1 72
Hemolytic Uremic Syndrome, Atypical 57
Non-Shiga-Like Toxin-Associated Hus 43
Hemolytic-Uremic Syndrome, Atypical 39
Ahus with Anti-Factor H Antibodies 58
Hemolytic Uremic Syndrome, Typical 70
Typical Hemolytic Uremic Syndrome 58
Shiga-Like Toxin-Associated Hus 58
Ahus, Susceptibility to, 1 57
Nonenteropathic Hus 43
Hus, Atypical 20
Non-Stx-Hus 43
Typical Hus 58
Ehec-Hus 58
Stec-Hus 58
Stx-Hus 58
Ahus 1 57
D+ Hus 58
D Hus 72

Characteristics:

Orphanet epidemiological data:

58
atypical hemolytic uremic syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (United States),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;
shiga toxin-associated hemolytic uremic syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (United States); Age of onset: All ages;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
diarrhea-associated (d+hus), occurs in children younger than 3 years, associated with verotoxin-producing e. coli (90% of patients) (typical hus)
d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis
diarrhea-negative subtype (d-hus), or atypical hus, is more severe and often relapses
d-hus is usually familial
phenotypic overlap with thrombotic thrombocytopenic purpura (ttp, )
may be triggered by medications, including antineoplastic agents, immunotherapeutic agents, and antiplatelet agents


HPO:

31
hemolytic uremic syndrome, atypical 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare haematological diseases


Summaries for Hemolytic Uremic Syndrome, Atypical 1

MedlinePlus Genetics : 43 Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure.Hemolytic anemia occurs when red blood cells break down (undergo hemolysis) prematurely. In atypical hemolytic-uremic syndrome, red blood cells can break apart as they squeeze past clots within small blood vessels. Anemia results if these cells are destroyed faster than the body can replace them. Anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate.Thrombocytopenia is a reduced level of circulating platelets, which are cells that normally assist with blood clotting. In people with atypical hemolytic-uremic syndrome, fewer platelets are available in the bloodstream because a large number of platelets are used to make abnormal clots. Thrombocytopenia can cause easy bruising and abnormal bleeding.As a result of clot formation in small blood vessels, people with atypical hemolytic-uremic syndrome experience kidney damage and acute kidney failure that lead to end-stage renal disease (ESRD) in about half of all cases. These life-threatening complications prevent the kidneys from filtering fluids and waste products from the body effectively.Atypical hemolytic-uremic syndrome should be distinguished from a more common condition called typical hemolytic-uremic syndrome. The two disorders have different causes and different signs and symptoms. Unlike the atypical form, the typical form is caused by infection with certain strains of Escherichia coli bacteria that produce toxic substances called Shiga-like toxins. The typical form is characterized by severe diarrhea and most often affects children younger than 10. The typical form is less likely than the atypical form to involve recurrent attacks of kidney damage that lead to ESRD.

MalaCards based summary : Hemolytic Uremic Syndrome, Atypical 1, also known as atypical hemolytic uremic syndrome, is related to genetic atypical hemolytic-uremic syndrome and complement factor h deficiency. An important gene associated with Hemolytic Uremic Syndrome, Atypical 1 is CFH (Complement Factor H), and among its related pathways/superpathways are Complement and coagulation cascades and Creation of C4 and C2 activators. The drugs Epoetin alfa and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and liver, and related phenotypes are proteinuria and thrombocytopenia

Disease Ontology : 12 A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.

GARD : 20 Atypical hemolytic uremic syndrome (aHUS) is a disease that causes abnormal blood clots to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow, including hemolytic anemia, thrombocytopenia, and kidney failure. It can occur at any age and is often caused by a combination of environmental and genetic factors. Genetic factors involve genes that code for proteins that help control the complement system (part of your body's immune system ). Environmental factors include certain medications (such as anticancer drugs), chronic diseases (e.g., systemic sclerosis and malignant hypertension ), viral or bacterial infections, cancers, organ transplantation, and pregnancy. In about 60% of aHUS, a gene mutation may be identified. The genes associated with genetic aHUS include C3, CD46 ( MCP ), CFB, CFH, CFHR1, CFHR3, CFHR4, CFI, DGKE, and THBD. Mutations in these genes increase the likelihood (predisposition) to developing aHUS, rather than directly causing the disease. Most cases are sporadic. In familiar cases, p redisposition to aHUS is inherited in an autosomal dominant or an autosomal recessive pattern of inheritance. Atypical hemolytic uremic syndrome differs from a more common condition called typical hemolytic uremic syndrome. The two disorders have different causes and different signs and symptoms.

OMIM® : 57 Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. (235400) (Updated 05-Apr-2021)

KEGG : 36 The haemolytic uraemic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic haemolytic anaemia and acute renal failure. HUS may be classified as either diarrhoeal-associated (D+HUS) or non-diarrhoeal/atypical (aHUS). Approximately half of the patients with aHUS have mutations in genes that regulate the complement system. Several other conditions and factors, such as infection, drugs, pregnancy, and malignancy, have been reported to cause aHUS.

UniProtKB/Swiss-Prot : 72 Hemolytic uremic syndrome atypical 1: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.

Wikipedia : 73 Atypical hemolytic uremic syndrome (aHUS) is an extremely rare, life-threatening, progressive disease... more...

Related Diseases for Hemolytic Uremic Syndrome, Atypical 1

Diseases in the Hemolytic Uremic Syndrome, Atypical 1 family:

Hemolytic Uremic Syndrome, Atypical 2 Hemolytic Uremic Syndrome, Atypical 3
Hemolytic Uremic Syndrome, Atypical 4 Hemolytic Uremic Syndrome, Atypical 5
Hemolytic Uremic Syndrome, Atypical 6

Diseases related to Hemolytic Uremic Syndrome, Atypical 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 519)
# Related Disease Score Top Affiliating Genes
1 genetic atypical hemolytic-uremic syndrome 33.1 THBD DGKE CFI CFHR5 CFHR4 CFHR3
2 complement factor h deficiency 32.8 CFI CFHR1 CFH CD46
3 hemolytic-uremic syndrome 32.8 THBD MMACHC DGKE CFI CFHR5 CFHR4
4 atypical hemolytic uremic syndrome with complement gene abnormality 32.7 THBD CFI CFH CFB CD46 C3
5 thrombotic microangiopathy 32.5 THBD ADAMTS13
6 hemolytic anemia 32.2 THBD DGKE CFI CFHR5 CFHR3 CFHR1
7 purpura 32.1 THBD C3 ADAMTS13
8 thrombocytopenia 32.1 THBD DGKE CFI CFHR5 CFHR3 CFHR1
9 thrombotic thrombocytopenic purpura 32.0 THBD CFI CFH CD46 C3 ADAMTS13
10 nephrotic syndrome, type 7 32.0 DGKE CFH
11 end stage renal disease 32.0 THBD COL4A5 CFHR5 CFHR3 CFHR1 CFH
12 glomerulonephritis 31.7 COL4A5 CFP CFI CFHR5 CFH CD46
13 c3 glomerulopathy 31.5 DGKE CFP CFI CFHR5 CFHR3 CFHR2
14 chronic kidney disease 31.5 THBD COL4A5 CFI CFHR5 CFHR1 CFH
15 malignant hypertension 31.4 THBD CFHR2 CFH ADAMTS13
16 hemoglobinuria 31.4 THBD CFI C5 C3
17 kidney disease 31.4 THBD COL4A5 CFHR5 CFH C3
18 membranoproliferative glomerulonephritis 31.4 DGKE CFP CFHR5 CFHR2 CFH CFB
19 severe pre-eclampsia 31.3 CFH CFB C5 C3
20 paroxysmal nocturnal hemoglobinuria 31.3 THBD CFI C5 C3
21 hellp syndrome 31.3 THBD CFI CFH CD46 ADAMTS13
22 iga glomerulonephritis 31.3 CFP CFHR2 CFH C3
23 pneumococcal meningitis 31.2 C5 C3
24 meningitis 31.1 CFP CFI CD46 C3
25 macular degeneration, age-related, 1 31.1 CFP CFI CFHR5 CFHR4 CFHR3 CFHR2
26 kidney cortex necrosis 31.0 MMACHC CFI ADAMTS13
27 dense deposit disease 31.0 DGKE CFHR5 CFHR2 CFH CFB C5
28 neisseria meningitidis infection 31.0 CFP CD46 C3
29 methylmalonic aciduria and homocystinuria, cblc type 31.0 MMACHC DGKE CFH CFB ADAMTS13
30 methylmalonic acidemia 31.0 MMACHC DGKE CFHR2 CFH ADAMTS13
31 acute poststreptococcal glomerulonephritis 30.9 CFP CFHR5 CFHR2 C5 C3
32 complement component 5 deficiency 30.9 CFP CFHR2 CD46 C5 C3AR1 C3
33 enterocolitis 30.8 CFH CFB CD46 C3
34 antiphospholipid syndrome 30.8 THBD CFH C3 ADAMTS13
35 catastrophic antiphospholipid syndrome 30.8 CFH ADAMTS13
36 thrombotic thrombocytopenic purpura, hereditary 30.7 CFH ADAMTS13
37 systemic lupus erythematosus 30.7 THBD CFI CFHR2 CFB CD46 C5
38 afibrinogenemia, congenital 30.7 CFP CFI CFHR2 CD46 C3
39 immune-complex glomerulonephritis 30.6 CFI CFHR2 C3
40 rapidly progressive glomerulonephritis 30.6 CFP C5 C3
41 alport syndrome 30.6 COL4A5 CFHR5 CFH
42 macular degeneration, age-related, 4 30.6 CFH CFB
43 complement deficiency 30.4 DGKE CFP CFI CFHR5 CFHR4 CFHR3
44 hemolytic uremic syndrome, atypical, childhood 11.7
45 hemolytic uremic syndrome, atypical 2 11.6
46 hemolytic uremic syndrome, atypical 3 11.6
47 hemolytic uremic syndrome, atypical 4 11.6
48 hemolytic uremic syndrome, atypical 5 11.6
49 hemolytic uremic syndrome, atypical 6 11.6
50 d-minus hemolytic uremic syndrome 11.4

Graphical network of the top 20 diseases related to Hemolytic Uremic Syndrome, Atypical 1:



Diseases related to Hemolytic Uremic Syndrome, Atypical 1

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 1

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 1:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
2 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001873
3 hematuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000790
4 acute kidney injury 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001919
5 microangiopathic hemolytic anemia 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001937
6 abnormal lactate dehydrogenase level 31 hallmark (90%) HP:0045040
7 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
8 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
9 unconjugated hyperbilirubinemia 58 31 frequent (33%) Frequent (79-30%) HP:0008282
10 elevated serum creatinine 58 31 frequent (33%) Frequent (79-30%) HP:0003259
11 decreased serum complement factor b 58 31 frequent (33%) Frequent (79-30%) HP:0005416
12 decreased serum complement factor i 58 31 frequent (33%) Frequent (79-30%) HP:0005356
13 decreased level of thrombomodulin 58 31 frequent (33%) Frequent (79-30%) HP:0040229
14 dysfunctional alternative complement pathway 58 31 frequent (33%) Frequent (79-30%) HP:0005423
15 anuria 58 31 frequent (33%) Frequent (79-30%) HP:0100519
16 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
17 dehydration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001944
18 hypokalemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002900
19 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
20 hyponatremia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002902
21 reticulocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001923
22 leukocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001974
23 excessive daytime somnolence 58 31 occasional (7.5%) Occasional (29-5%) HP:0001262
24 hemoglobinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0003641
25 bloody diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0025085
26 intestinal perforation 58 31 occasional (7.5%) Occasional (29-5%) HP:0031368
27 schistocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001981
28 acute colitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100282
29 seizure 31 occasional (7.5%) HP:0001250
30 increased lactate dehydrogenase level 31 occasional (7.5%) HP:0025435
31 myocardial infarction 58 31 very rare (1%) Very rare (<4-1%) HP:0001658
32 rectal prolapse 58 31 very rare (1%) Very rare (<4-1%) HP:0002035
33 coma 58 31 very rare (1%) Very rare (<4-1%) HP:0001259
34 pancreatitis 58 31 very rare (1%) Very rare (<4-1%) HP:0001733
35 peritonitis 58 31 very rare (1%) Very rare (<4-1%) HP:0002586
36 intussusception 58 31 very rare (1%) Very rare (<4-1%) HP:0002576
37 colonic stenosis 58 31 very rare (1%) Very rare (<4-1%) HP:0012851
38 diarrhea 58 31 Frequent (79-30%) HP:0002014
39 seizures 58 Occasional (29-5%)
40 dysphasia 31 HP:0002357
41 cognitive impairment 31 HP:0100543
42 fever 31 HP:0001945
43 hyperlipidemia 31 HP:0003077
44 purpura 31 HP:0000979
45 abnormality of the nervous system 58 Occasional (29-5%)
46 abnormality of metabolism/homeostasis 58 Very frequent (99-80%)
47 hemiparesis 31 HP:0001269
48 abnormality of blood and blood-forming tissues 58 Very frequent (99-80%)
49 abnormality of complement system 58 Frequent (79-30%)
50 complement deficiency 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
dysphasia
coma
hemiparesis
global and focal neurologic abnormalities (less than 30%)
more
Hematology:
thrombocytopenia
reticulocytosis
microangiopathic hemolytic anemia
thrombotic microangiopathy
schistocytes
more
Genitourinary Kidneys:
anuria
acute renal failure

Abdomen Gastrointestinal:
prodrome of gastroenteric diarrhea, usually caused by e. coli 0157-h7 or shigella in young children (typical hus)

Metabolic Features:
fever

Laboratory Abnormalities:
hyperlipidemia
increased blood urea nitrogen (bun)
decreased hemoglobin
increased creatinine
decreased serum factor h (atypical hus)
more
Cardiovascular Vascular:
hypertension (especially in atypical hemolytic-uremic syndrome (ahus))

Immunology:
complement component consumption
defective complement regulation
activation of the complement system
some patients may have autoantibodies to factor h, resulting in functional factor h deficiency

Clinical features from OMIM®:

235400 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Hemolytic Uremic Syndrome, Atypical 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 ADAMTS13 BAAT C3 C3AR1 C5 CFB
2 immune system MP:0005387 9.77 ADAMTS13 BAAT C3 C3AR1 C5 CFB
3 renal/urinary system MP:0005367 9.32 C3 C3AR1 C5 CFB CFH CFI

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 1

Drugs for Hemolytic Uremic Syndrome, Atypical 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Epoetin alfa Phase 4 113427-24-0
2 Hematinics Phase 4
3
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
12
Acetaminophen Approved Phase 2 103-90-2 1983
13
Promethazine Approved, Investigational Phase 2 60-87-7 4927
14
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
15
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
16
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
20
Metoclopramide Approved, Investigational 364-62-5 4168
21
dipyrone 522325

Interventional clinical trials:

(show all 44)
# 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 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®)
5 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
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 The Safety and Efficacy of Eculizumab in Japanese Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT01757431 Phase 2 Eculizumab
14 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
15 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
16 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
17 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
18 An Open-label, Multi-center Clinical Trial of Eculizumab in Adult Patients With Atypical Hemolytic-uremic Syndrome Completed NCT01194973 Phase 2 Eculizumab
19 An Open-Label, Multi-Center Clinical Trial of Eculizumab in Pediatric Patients With Atypical Hemolytic-Uremic Syndrome Completed NCT01193348 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 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
23 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
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 A Retrospective, Observational, Non-interventional Trial to Assess Eculizumab Treatment Effect in Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT01770951
31 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
32 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.
33 Haemolytic Uraemic Syndrome in Childhood: Clinical, Cognitive and Psychological Aspects Completed NCT01666548
34 The Role of Endothelium Dysfunction in Progression of CKD (Chronic Kidney Disease) After AKI (Acute Kidney Injury) Completed NCT00358306
35 An Observational, Non-Interventional, Multi-Center, Multi-National Study of Patients With Atypical Hemolytic-Uremic Syndrome (aHUS Registry) Recruiting NCT01522183
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 Eculizumab Use in the Postpartum Period for the Treatment of Pregnancy Associated Atypical Hemolytic Uremic Syndrome: A Case Series Active, not recruiting NCT03574506
39 Usefulness of a Diagnostic Algorithm to Diagnose Thrombotic Microangiopathies in Pregnancy Active, not recruiting NCT03580941
40 Diagnostic and Risk Criteria for Complement Defects in Thrombotic Microangiopathy and Amplifying Conditions, Such as Severe Hypertension: The COMPETE Study. Not yet recruiting NCT04745195
41 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
42 Evidence - Evaluation of Potential Predictors of Disease Progression in Patients With aHUS, Including Genetics, Biomarkers and Treatment Terminated NCT02614898
43 An Observational Study of All Forms of Thrombotic Microangiopathy in Pediatric Patients Terminated NCT00593229
44 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, Atypical 1

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 1

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 1:

# Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome 1 29 CFH CFHR1 CFHR3
2 Atypical Hemolytic Uremic Syndrome 29 CFHR4
3 Hemolytic Uremic Syndrome, Atypical, Susceptibility to 29

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 1

MalaCards organs/tissues related to Hemolytic Uremic Syndrome, Atypical 1:

40
Kidney, Endothelial, Liver, Heart, Skin, Pancreas, Neutrophil

Publications for Hemolytic Uremic Syndrome, Atypical 1

Articles related to Hemolytic Uremic Syndrome, Atypical 1:

(show top 50) (show all 1205)
# Title Authors PMID Year
1
Factor H dysfunction in patients with atypical hemolytic uremic syndrome contributes to complement deposition on platelets and their activation. 57 6 61
18268093 2008
2
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. 6 57 61
18006700 2008
3
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. 57 6 61
17367211 2007
4
Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. 61 6 57
14978182 2004
5
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. 57 6 61
11170895 2001
6
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. 61 6 57
10762557 2000
7
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. 57 6 61
10577907 1999
8
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. 6 57
16621965 2006
9
Familial haemolytic uraemic syndrome and an MCP mutation. 6 57
14615110 2003
10
Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. 6 57
12697737 2003
11
Human complement factor H deficiency associated with hemolytic uremic syndrome. 6 57
9848786 1998
12
Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H. 6 57
9811382 1998
13
Genetic studies into inherited and sporadic hemolytic uremic syndrome. 6 57
9551389 1998
14
Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype. 6 57
7452889 1981
15
Familial haemolytic uraemic syndrome. 6 57
646435 1978
16
Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients. 6 61
28056875 2017
17
The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies. 6 61
26559391 2016
18
Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome. 61 6
26307634 2015
19
Phenotypic expansion of DGKE-associated diseases. 6 61
24511134 2014
20
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. 6 61
23431077 2013
21
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. 6 61
22019782 2011
22
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 6 61
20513133 2010
23
Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. 6 61
20203157 2010
24
Atypical hemolytic-uremic syndrome. 61 57
19846853 2009
25
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. 6 61
18796626 2008
26
A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity. 61 57
18424762 2008
27
Genetic Atypical Hemolytic-Uremic Syndrome 61 6
20301541 2007
28
The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models. 6 61
17089378 2007
29
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. 61 6
17182750 2007
30
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. 6 61
16762990 2006
31
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. 61 6
15661753 2005
32
Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome. 57 61
15590760 2005
33
Severe deficiency of the specific von Willebrand factor-cleaving protease (ADAMTS 13) activity in a subgroup of children with atypical hemolytic uremic syndrome. 61 57
12640381 2003
34
Familial hemolytic uremic syndrome associated with complement factor H deficiency. 57 61
11241053 2001
35
A national specialized service in England for atypical haemolytic uraemic syndrome-the first year's experience. 6
25899302 2016
36
Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration. 6
25880396 2015
37
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
38
Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri. 6
24944786 2014
39
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. 6
24036949 2013
40
Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations. 6
23731345 2013
41
A functional variant in the CFI gene confers a high risk of age-related macular degeneration. 6
23685748 2013
42
Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion. 6
22710145 2012
43
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). 6
20843825 2010
44
The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. 57
19435718 2009
45
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. 6
17018561 2007
46
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. 6
16998489 2006
47
Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. 6
15173250 2004
48
Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. 57
14583443 2003
49
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. 6
14566051 2003
50
Circulating granulocyte colony-stimulating factor, C-X-C, and C-C chemokines in children with Escherichia coli O157:H7 associated hemolytic uremic syndrome. 57
12438672 2002

Variations for Hemolytic Uremic Syndrome, Atypical 1

ClinVar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 1:

6 (show top 50) (show all 541)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFH NM_000186.3(CFH):c.3572C>T (p.Ser1191Leu) SNV Pathogenic, risk factor 16545 rs460897 GRCh37: 1:196716319-196716319
GRCh38: 1:196747189-196747189
2 CFH NM_000186.3(CFH):c.2697T>A (p.Tyr899Ter) SNV Pathogenic, risk factor 16553 rs121913057 GRCh37: 1:196706705-196706705
GRCh38: 1:196737575-196737575
3 CFH NM_000186.3(CFH):c.1318_1327del (p.Pro440fs) Deletion Pathogenic 599109 rs1558162157 GRCh37: 1:196659351-196659360
GRCh38: 1:196690221-196690230
4 CFH NM_000186.3(CFH):c.2950T>C (p.Cys984Arg) SNV Pathogenic 265982 rs886039869 GRCh37: 1:196709916-196709916
GRCh38: 1:196740786-196740786
5 CFH NM_000186.3(CFH):c.2397del (p.Glu800fs) Deletion Pathogenic 429034 rs1131690796 GRCh37: 1:196697636-196697636
GRCh38: 1:196728506-196728506
6 CFH NM_000186.3(CFH):c.710_711del (p.Lys236_Cys237insTer) Deletion Pathogenic 438685 rs1553273733 GRCh37: 1:196648842-196648843
GRCh38: 1:196679712-196679713
7 overlap with 3 genes NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del Deletion Pathogenic 21089 GRCh37: 1:196712876-196797546
GRCh38: 1:196743746-196828416
8 BAAT NM_001701.4(BAAT):c.858C>G (p.Ser286=) SNV Pathogenic 21300 rs80356746 GRCh37: 9:104125109-104125109
GRCh38: 9:101362827-101362827
9 BAAT NM_001701.4(BAAT):c.967A>G (p.Ile323Val) SNV Pathogenic 21301 rs80356747 GRCh37: 9:104125000-104125000
GRCh38: 9:101362718-101362718
10 CFH NM_000186.3(CFH):c.1126C>T (p.Gln376Ter) SNV Pathogenic 635491 rs1573026975 GRCh37: 1:196658711-196658711
GRCh38: 1:196689581-196689581
11 CFH NM_000186.4(CFH):c.3134-2A>G SNV Pathogenic 829824 rs1300996807 GRCh37: 1:196712580-196712580
GRCh38: 1:196743450-196743450
12 CFH NM_000186.4(CFH):c.2535dup (p.Gln846fs) Duplication Pathogenic 829949 rs1573076111 GRCh37: 1:196706073-196706074
GRCh38: 1:196736943-196736944
13 CD46 NM_172351.3(CD46):c.404del (p.Gly135fs) Deletion Pathogenic 635500 rs1571588257 GRCh37: 1:207932997-207932997
GRCh38: 1:207759652-207759652
14 CD46 NM_172351.3(CD46):c.776del (p.Gly259fs) Deletion Pathogenic 265981 rs886039868 GRCh37: 1:207940458-207940458
GRCh38: 1:207767113-207767113
15 CD46 NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer) Deletion Pathogenic 369948 rs1057516191 GRCh37: 1:207934659-207934660
GRCh38: 1:207761314-207761315
16 CD46 NM_172351.3(CD46):c.604C>T (p.Leu202Phe) SNV Pathogenic 599060 rs750324925 GRCh37: 1:207934722-207934722
GRCh38: 1:207761377-207761377
17 C3 NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer) Deletion Pathogenic 992385 GRCh37: 19:6686207-6686208
GRCh38: 19:6686196-6686197
18 CD46 NM_172351.3(CD46):c.828G>A (p.Trp276Ter) SNV Pathogenic 829863 rs1571617647 GRCh37: 1:207940512-207940512
GRCh38: 1:207767167-207767167
19 CD46 NM_172351.3(CD46):c.714_715del (p.Gln238fs) Deletion Pathogenic 829903 rs1571616755 GRCh37: 1:207940397-207940398
GRCh38: 1:207767052-207767053
20 CFB NM_001710.6(CFB):c.1374G>A (p.Met458Ile) SNV Pathogenic 829990 rs200837114 GRCh37: 6:31917300-31917300
GRCh38: 6:31949523-31949523
21 DGKE NM_003647.3(DGKE):c.301A>T (p.Lys101Ter) SNV Pathogenic 446215 rs777787526 GRCh37: 17:54912457-54912457
GRCh38: 17:56835096-56835096
22 DGKE NM_003647.3(DGKE):c.447del (p.Lys150fs) Deletion Pathogenic 812509 GRCh37: 17:54912601-54912601
GRCh38: 17:56835240-56835240
23 THBD NM_000361.2(THBD):c.1483C>T (p.Pro495Ser) SNV Pathogenic 12720 rs1800578 GRCh37: 20:23028659-23028659
GRCh38: 20:23048022-23048022
24 CFH NM_000186.4(CFH):c.3493+2T>C SNV Pathogenic 988140 GRCh37: 1:196715131-196715131
GRCh38: 1:196746001-196746001
25 CFH NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys) SNV Pathogenic 16558 rs121913059 GRCh37: 1:196716375-196716375
GRCh38: 1:196747245-196747245
26 CFH NM_000186.4(CFH):c.1574G>A (p.Trp525Ter) SNV Pathogenic 988145 GRCh37: 1:196684777-196684777
GRCh38: 1:196715647-196715647
27 CFH NM_000186.3(CFH):c.3643C>G (p.Arg1215Gly) SNV Pathogenic 16542 rs121913051 GRCh37: 1:196716390-196716390
GRCh38: 1:196747260-196747260
28 CFHR5 NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup Duplication Pathogenic 988223 GRCh37:
GRCh38:
29 CFH NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter) SNV Pathogenic 988221 GRCh37: 1:196715034-196715034
GRCh38: 1:196745904-196745904
30 CD46 NM_172351.3(CD46):c.476-1G>A SNV Pathogenic 988245 GRCh37: 1:207934593-207934593
GRCh38: 1:207761248-207761248
31 CFH NM_000186.3(CFH):c.3590T>C (p.Val1197Ala) SNV Pathogenic 21090 rs460184 GRCh37: 1:196716337-196716337
GRCh38: 1:196747207-196747207
32 C3 NM_000064.4(C3):c.3470T>C (p.Ile1157Thr) SNV Pathogenic 988243 GRCh37: 19:6690659-6690659
GRCh38: 19:6690648-6690648
33 C3 NM_000064.4(C3):c.193A>C (p.Lys65Gln) SNV Pathogenic 381739 rs539992721 GRCh37: 19:6719296-6719296
GRCh38: 19:6719285-6719285
34 CD46 NM_172351.3(CD46):c.286+2T>G SNV Pathogenic 505831 rs769742294 GRCh37: 1:207930549-207930549
GRCh38: 1:207757204-207757204
35 COL4A5 NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) SNV Pathogenic 24543 rs104886189 GRCh37: X:107863584-107863584
GRCh38: X:108620354-108620354
36 MMACHC NM_015506.3(MMACHC):c.271dup (p.Arg91fs) Duplication Pathogenic 1421 rs398124292 GRCh37: 1:45973216-45973217
GRCh38: 1:45507544-45507545
37 CFI NM_000204.4(CFI):c.559C>T (p.Arg187Ter) SNV Pathogenic/Likely pathogenic 631934 rs368615806 GRCh37: 4:110682772-110682772
GRCh38: 4:109761616-109761616
38 CD46 NM_172351.3(CD46):c.286+2T>G SNV Likely pathogenic 505831 rs769742294 GRCh37: 1:207930549-207930549
GRCh38: 1:207757204-207757204
39 CFI NM_000204.4(CFI):c.355G>A (p.Gly119Arg) SNV risk factor 66014 rs141853578 GRCh37: 4:110685820-110685820
GRCh38: 4:109764664-109764664
40 CD46 NM_172351.3(CD46):c.565T>G (p.Tyr189Asp) SNV Likely pathogenic 988106 GRCh37: 1:207934683-207934683
GRCh38: 1:207761338-207761338
41 SMARCAL1 NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs) Deletion Likely pathogenic 988239 GRCh37: 2:217332716-217332716
GRCh38: 2:216467993-216467993
42 CFI NM_000204.5(CFI):c.1006C>T (p.Arg336Ter) SNV Likely pathogenic 988219 GRCh37: 4:110670693-110670693
GRCh38: 4:109749537-109749537
43 DGKE NM_003647.3(DGKE):c.1A>T (p.Met1Leu) SNV Likely pathogenic 988188 GRCh37: 17:54912157-54912157
GRCh38: 17:56834796-56834796
44 ADAMTS13 NM_139025.4(ADAMTS13):c.1370C>T (p.Pro457Leu) SNV Likely pathogenic 365546 rs36220240 GRCh37: 9:136302010-136302010
GRCh38: 9:133436890-133436890
45 CFH NM_000186.4(CFH):c.3546G>C (p.Arg1182Ser) SNV Likely pathogenic 988141 GRCh37: 1:196716293-196716293
GRCh38: 1:196747163-196747163
46 THBD NM_000361.2(THBD):c.127G>A (p.Ala43Thr) SNV risk factor 12718 rs1800576 GRCh37: 20:23030015-23030015
GRCh38: 20:23049378-23049378
47 DGKE NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) SNV Likely pathogenic 135641 rs138924661 GRCh37: 17:54926134-54926134
GRCh38: 17:56848773-56848773
48 DGKE NM_003647.3(DGKE):c.942C>G (p.Asn314Lys) SNV Likely pathogenic 812708 GRCh37: 17:54926110-54926110
GRCh38: 17:56848749-56848749
49 CFH NM_000186.3(CFH):c.3643C>G (p.Arg1215Gly) SNV risk factor 16542 rs121913051 GRCh37: 1:196716390-196716390
GRCh38: 1:196747260-196747260
50 DGKE NM_003647.3(DGKE):c.889-1G>A SNV Likely pathogenic 135640 rs312262696 GRCh37: 17:54926056-54926056
GRCh38: 17:56848695-56848695

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Uremic Syndrome, Atypical 1:

72 (show all 31)
# Symbol AA change Variation ID SNP ID
1 CFH p.Leu1189Arg VAR_019407 rs121913055
2 CFH p.Ser1191Leu VAR_019408 rs460897
3 CFH p.Arg78Gly VAR_025864
4 CFH p.Cys630Trp VAR_025865
5 CFH p.Glu850Lys VAR_025866 rs762443267
6 CFH p.Gln950His VAR_025867 rs149474608
7 CFH p.Tyr951His VAR_025868 rs777049051
8 CFH p.Thr956Met VAR_025869 rs145975787
9 CFH p.Trp978Cys VAR_025870
10 CFH p.Tyr1021Phe VAR_025871
11 CFH p.Cys1043Arg VAR_025872
12 CFH p.Val1134Gly VAR_025875
13 CFH p.Tyr1142Asp VAR_025876
14 CFH p.Trp1157Arg VAR_025877
15 CFH p.Cys1163Trp VAR_025878
16 CFH p.Trp1183Leu VAR_025879
17 CFH p.Trp1183Arg VAR_025880
18 CFH p.Gly1194Asp VAR_025882 rs761877050
19 CFH p.Val1197Ala VAR_025883 rs460184
20 CFH p.Glu1198Ala VAR_025884
21 CFH p.Arg1215Gly VAR_025886 rs121913051
22 CFH p.Pro1226Ser VAR_025888
23 CFH p.Gln400Lys VAR_031980 rs201671665
24 CFH p.Cys673Tyr VAR_031983 rs139181579
25 CFH p.His893Arg VAR_031984
26 CFH p.Cys915Ser VAR_031985
27 CFH p.Phe1199Ser VAR_031986
28 CFH p.Cys325Tyr VAR_063648
29 CFH p.Val609Ile VAR_063649 rs148165372
30 CFH p.Ile1169Leu VAR_063650
31 CFH p.Trp1183Cys VAR_063651

Copy number variations for Hemolytic Uremic Syndrome, Atypical 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 26280 1 198700000 214500000 Deletion CFHR1 Atypical hemolytic uremic syndrome
2 26281 1 198700000 214500000 Deletion CFHR3 Atypical hemolytic uremic syndrome
3 26282 1 198700000 214500000 Deletion CFHR4 Atypical hemolytic uremic syndrome

Expression for Hemolytic Uremic Syndrome, Atypical 1

Search GEO for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 1.

Pathways for Hemolytic Uremic Syndrome, Atypical 1

Pathways related to Hemolytic Uremic Syndrome, Atypical 1 according to KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.92 CFI CFHR3 CFH CFB CD46 C5
2
Show member pathways
11.81 CFP CFI CFHR3 CFH CFB CD46
3 11.72 CFI CFH CFB C5 C3AR1 C3
4 11.6 THBD CFI CFHR5 CFHR4 CFHR3 CFHR2
5
Show member pathways
11.53 CFP CFB C5 C3

GO Terms for Hemolytic Uremic Syndrome, Atypical 1

Cellular components related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 THBD COL4A5 CFP CFI CFHR3 CFHR1
2 endoplasmic reticulum lumen GO:0005788 9.56 COL4A5 CFP C3 ADAMTS13
3 blood microparticle GO:0072562 9.55 CFHR3 CFHR1 CFH CFB C3
4 extracellular region GO:0005576 9.44 COL4A5 CFP CFI CFHR5 CFHR4 CFHR3

Biological processes related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.91 CFP CFI CFH CFB CD46 C5
2 innate immune response GO:0045087 9.87 CFP CFI CFH CFB CD46 C5
3 complement activation, classical pathway GO:0006958 9.73 CFI CD46 C5 C3
4 negative regulation of protein binding GO:0032091 9.63 CFHR5 CFHR2 CFHR1
5 complement activation GO:0006956 9.63 CFP CFHR1 CFH CFB C5 C3
6 positive regulation of vascular endothelial growth factor production GO:0010575 9.58 C5 C3AR1 C3
7 cytolysis by host of symbiont cells GO:0051838 9.43 CFHR5 CFHR2 CFHR1
8 complement activation, alternative pathway GO:0006957 9.43 CFP CFHR5 CFH CFB C5 C3
9 regulation of complement activation GO:0030449 9.4 CFP CFI CFHR5 CFHR4 CFHR2 CFHR1

Sources for Hemolytic Uremic Syndrome, Atypical 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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