MCID: HML033
MIFTS: 56

Hemolytic Uremic Syndrome, Atypical 1

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Blood diseases, Immune 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 53 37 29 6 73
Ahus 53 25 59 75
Hemolytic Uremic Syndrome, Atypical, Susceptibility to 57 29 6
Atypical Hemolytic-Uremic Syndrome 12 25 59
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1 57 13
Hemolytic-Uremic Syndrome Without Diarrhea 59 75
Atypical Hemolytic-Uremic Syndrome 1 29 6
Hemolytic-Uremic Syndrome 75 73
Atypical Hus 53 59
Ahus1 57 75
Hemolytic-Uremic Syndrome Without Diarrhea with Anti-Factor H Antibodies 59
Atypical Hemolytic-Uremic Syndrome with Anti-Factor H Antibodies 59
Atypical Hemolytic Uremic Syndrome with H Factor Anomaly 75
Hemolytic-Uremic Syndrome, Atypical, Type 1 40
Atypical Hus with Anti-Factor H Antibodies 59
Hemolytic-Uremic Syndrome with Diarrhea 59
Hemolytic Uremic Syndrome Atypical 1 75
Hemolytic Uremic Syndrome, Atypical 57
Non-Shiga-Like Toxin-Associated Hus 25
D-Hus with Anti-Factor H Antibodies 59
Ahus with Anti-Factor H Antibodies 59
Hemolytic Uremic Syndrome, Typical 73
Typical Hemolytic-Uremic Syndrome 59
Shiga-Like Toxin-Associated Hus 59
Ahus, Susceptibility to, 1 57
Nonenteropathic Hus 25
Hus, Atypical 53
Non-Stx-Hus 25
Typical Hus 59
Sxt-Hus 59
Ahus 1 57
D-Hus 59
D+hus 59
D Hus 75

Characteristics:

Orphanet epidemiological data:

59
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;
typical hemolytic-uremic syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (United States); Age of onset: All ages;

OMIM:

57
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:

32
hemolytic uremic syndrome, atypical 1:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemolytic Uremic Syndrome, Atypical 1

NIH Rare Diseases : 53 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, predisposition 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.

MalaCards based summary : Hemolytic Uremic Syndrome, Atypical 1, also known as atypical hemolytic uremic syndrome, is related to complement factor h deficiency and nephrotic syndrome, type 7. 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 Complement System Proteins and Complement Inactivating Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and liver, and related phenotypes are proteinuria and thrombocytopenia

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)

UniProtKB/Swiss-Prot : 75 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.

Genetics Home Reference : 25 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.

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

Related Diseases for Hemolytic Uremic Syndrome, Atypical 1

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

Symptoms via clinical synopsis from OMIM:

57
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:
acute renal failure
anuria

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

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 1:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
2 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
3 hematuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000790
4 abnormal lactate dehydrogenase activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0045040
5 acute kidney injury 59 32 hallmark (90%) Very frequent (99-80%) HP:0001919
6 microangiopathic hemolytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001937
7 decreased serum complement factor i 59 32 frequent (33%) Frequent (79-30%) HP:0005356
8 decreased serum complement factor b 59 32 frequent (33%) Frequent (79-30%) HP:0005416
9 decreased level of thrombomodulin 59 32 frequent (33%) Frequent (79-30%) HP:0040229
10 hypertension 32 HP:0000822
11 seizures 32 HP:0001250
12 dysphasia 32 HP:0002357
13 cognitive impairment 32 HP:0100543
14 fever 32 HP:0001945
15 abnormality of metabolism/homeostasis 59 Very frequent (99-80%)
16 hyperlipidemia 32 HP:0003077
17 coma 32 HP:0001259
18 purpura 32 HP:0000979
19 reticulocytosis 32 HP:0001923
20 elevated serum creatinine 32 HP:0003259
21 diarrhea 32 HP:0002014
22 abnormality of blood and blood-forming tissues 59 Very frequent (99-80%)
23 hemiparesis 32 HP:0001269
24 complement deficiency 59 Frequent (79-30%)
25 abnormality of complement system 59 Frequent (79-30%)
26 increased blood urea nitrogen 32 HP:0003138
27 decreased serum complement c3 32 HP:0005421
28 anuria 32 HP:0100519
29 hemolytic-uremic syndrome 32 HP:0005575
30 decreased serum complement factor h 32 HP:0005369
31 schistocytosis 32 HP:0001981

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 1

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Complement System Proteins Phase 3,Phase 2
2 Complement Inactivating Agents Phase 3

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Study Assessing an Algorithm-based Strategy of Eculizumab Discontinuation in Children and Adults With aHUS Active, not recruiting NCT02574403 Phase 4 eculizumab
2 Eval. of Potential Predictors of Disease Progression in Patients With aHUS Including Genetics, Biomarkers and Treatment Active, not recruiting NCT02614898 Phase 4
3 Safety and Efficacy Study of OMS721 in Patients With Atypical Hemolytic Uremic Syndrome Recruiting NCT03205995 Phase 3
4 Study of ALXN1210 in Children and Adolescents With Atypical Hemolytic Uremic Syndrome (aHUS) Recruiting NCT03131219 Phase 3
5 Single Arm Study of ALXN1210 in Complement Inhibitor Treatment-Naïve Adult and Adolescent Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Recruiting NCT02949128 Phase 3
6 Safety and Efficacy Study of OMS721 in Patients With Thrombotic Microangiopathies Unknown status NCT02222545 Phase 2
7 An Open-label, Multi-center Clinical Trial of Eculizumab in Adult Patients With Atypical Hemolytic-uremic Syndrome Completed NCT01194973 Phase 2 Eculizumab
8 An Open-Label, Multi-Center Clinical Trial of Eculizumab in Pediatric Patients With Atypical Hemolytic-Uremic Syndrome Completed NCT01193348 Phase 2 Eculizumab
9 Open Label Controlled Trial of Eculizumab in Adult Patients With Plasma Therapy-sensitive Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT00838513 Phase 2 eculizumab
10 Open Label Controlled Trial of Eculizumab in Adult Patients With Plasma Therapy-Resistant aHUS Completed NCT00844545 Phase 2 Eculizumab
11 Open Label Controlled Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Resistant aHUS Completed NCT00844844 Phase 2 Eculizumab
12 Open Label Controlled Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Sensitive aHUS Completed NCT00844428 Phase 2 eculizumab
13 The Safety and Efficacy of Eculizumab in Japanese Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT01757431 Phase 2 Eculizumab
14 A Study of an Investigational Drug, Cemdisiran (ALN-CC5), in Patients With Atypical Hemolytic Uremic Syndrome Recruiting NCT03303313 Phase 2 Cemdisiran
15 Eculizumab to Treat Thrombotic Microangiopathy/Atypical Hemolytic Uremic Syndrome -Associated Multiple Organ Dysfunction Syndrome in Hematopoietic Stem Cell Transplant Recipients Not yet recruiting NCT03518203 Phase 2 Eculizumab
16 Complement Inhibition in aHUS Dialysis Patients Terminated NCT02464891 Phase 2 CCX168
17 Complement Activation During Hemodialysis in Atypical Hemolytic Uraemic Syndrome as Underlying Kidney Disease Unknown status NCT00930423
18 A Retrospective, Observational, Non-interventional Trial to Assess Eculizumab Treatment Effect in Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT01770951
19 To Characterize the Safety and Tolerability of Eculizumab in Two Japanese aHUS Patients Completed NCT01755429
20 Haemolytic Uraemic Syndrome in Childhood: Clinical, Cognitive and Psychological Aspects Completed NCT01666548
21 Atypical Hemolytic-Uremic Syndrome (aHUS) Registry Recruiting NCT01522183
22 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
23 Study of 'Vascular Competence' Profile and Endothelial Activation in the Hemolytic Uremic Syndrome in Children and Adults Recruiting NCT02904863 Not Applicable
24 Eculizumab Use in the Postpartum Period for the Treatment of Pregnancy Associated aHUS: A Case Series Active, not recruiting NCT03574506
25 The Role of Microparticles as a Biomarker Enrolling by invitation NCT02626663
26 aHUS Observational Long Term Follow-Up Terminated NCT01522170
27 International Registry and Biorepository for TMA(Thrombotic Microangiopathy) Terminated NCT00593229

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:

41
Kidney, Endothelial, Liver, Skin, Heart, Testes, Pancreas

Publications for Hemolytic Uremic Syndrome, Atypical 1

Articles related to Hemolytic Uremic Syndrome, Atypical 1:

(show top 50) (show all 347)
# Title Authors Year
1
Kidney Transplantation in Patients with Atypical Hemolytic Uremic Syndrome due to Complement Factor H Deficiency: Impact of Liver Transplantation. ( 29215813 )
2018
2
Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype andA outcome. ( 29907460 )
2018
3
Which should be the correct treatment for monoclonal gammopathy of renal significance with complement alternative pathway dysregulation (C3 glomerulopathy and atypical hemolytic uremic syndrome): clone-directed or anticomplement therapy? ( 29808447 )
2018
4
Complement activation in atypical hemolytic uremic syndrome and scleroderma renal crisis: a critical analysis of pathophysiology. ( 29796581 )
2018
5
Case Series of 3 Patients Diagnosed With Atypical Hemolytic Uremic Syndrome Successfully Treated With Steroids, Plasmapheresis, and Rituximab. ( 29308213 )
2018
6
Atypical hemolytic uremic syndrome: An unusual postoperative complication. ( 29426622 )
2018
7
Thrombomodulin and Endothelial Dysfunction: A Disease-Modifier Shared between Malignant Hypertension and Atypical Hemolytic Uremic Syndrome. ( 29940557 )
2018
8
Bevacizumab-induced atypical hemolytic uremic syndrome and treatment with eculizumab. ( 29768958 )
2018
9
Poststreptococcal glomerulonephritis with atypical hemolytic uremic syndrome: An unusual presentation. ( 29970754 )
2018
10
C3 Glomerulopathy and Atypical Hemolytic Uremic Syndrome: Two Important Manifestations of Complement System Dysfunction. ( 29594148 )
2018
11
Statistical Validation of Rare Complement Variants Provides Insights into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy. ( 29500241 )
2018
12
Safety and effectiveness of eculizumab for adult patients with atypical hemolytic-uremic syndrome in Japan: interim analysis of post-marketing surveillance. ( 29959568 )
2018
13
Atypical Hemolytic Uremic Syndrome. ( 29803280 )
2018
14
A Rare Case of Lupus Nephritis Presenting as Thrombotic Microangiopathy with Diffuse Pseudotubulization Possibly Caused by Atypical Hemolytic Uremic Syndrome. ( 29434134 )
2018
15
Glucose-6-Phosphate Dehydrogenase Deficiency Mimicking Atypical Hemolytic Uremic Syndrome. ( 29248304 )
2018
16
Ulcerative Colitis and Atypical Hemolytic-Uremic Syndrome: An Unusual But Potentially Life-threating Life Complication. ( 29931191 )
2018
17
Complement System Abnormalities in Patients with Atypical Hemolytic Uremic Syndrome and Catastrophic Antiphospholipid Syndrome. ( 29308852 )
2017
18
Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients. ( 28056875 )
2017
19
Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland. ( 28750931 )
2017
20
Pathogenic Variants in Complement Genes and Risk of Atypical Hemolytic Uremic Syndrome Relapse after Eculizumab Discontinuation. ( 27799617 )
2017
21
Targeting renin-angiotensin system in malignant hypertension in atypical hemolytic uremic syndrome. ( 28356668 )
2017
22
Case report: C3 glomerulopathy advancing atypical hemolytic uremic syndrome. ( 29150227 )
2017
23
Discontinuation of Peritoneal Dialysis after Late Initiation of Eculizumab in a Case of Familial Atypical Hemolytic-Uremic Syndrome: A Case Report. ( 28612003 )
2017
24
Two cases of atypical hemolytic uremic syndrome (aHUS) and eosinophilic granulomatosis with polyangiitis (EGPA): a possible relationship. ( 28509134 )
2017
25
Atypical hemolytic uremic syndrome triggered by varicella infection. ( 28725563 )
2017
26
Atypical Hemolytic Uremic Syndrome: A Meta-Analysis of Case Reports Confirms the Prevalence of Genetic Mutations and the Shift of Treatment Regimens. ( 29250893 )
2017
27
Aortic Valve Replacement as a Trigger of Atypical Hemolytic Uremic Syndrome. ( 28838521 )
2017
28
Atypical Hemolytic Uremic Syndrome: A Brief Review. ( 28626544 )
2017
29
Rare genetic variant in the CFB gene presenting as atypical hemolytic uremic syndrome and immune complex diffuse membranoproliferative glomerulonephritis, with crescents, successfully treated with eculizumab. ( 28210841 )
2017
30
[Complement factor B mutation in atypical hemolytic uremic syndrome. Rare cause of rare disease]. ( 28682564 )
2017
31
Living Donor Kidney Transplantation in Atypical Hemolytic Uremic Syndrome: A Case Series. ( 28821363 )
2017
32
Should eculizumab be discontinued in patients with atypical hemolytic uremic syndrome? ( 28616209 )
2017
33
A retrospective study of pregnancy-associated atypical hemolytic uremic syndrome. ( 28911789 )
2017
34
Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review. ( 29068997 )
2017
35
Purtscher-Like Retinopathy Associated with Atypical Hemolytic Uremic Syndrome. ( 29326853 )
2017
36
Maternal and Fetal Outcomes of Pregnancies in Women with Atypical Hemolytic Uremic Syndrome. ( 29282226 )
2017
37
Atypical Hemolytic Uremic Syndrome: Achieving Positive Patient Outcomes With Early Diagnosis and Appropriate Managementa8c. ( 28738049 )
2017
38
Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome. ( 26826462 )
2016
39
From Gestational Hypertension and Preeclampsia to Atypical Hemolytic Uremic Syndrome. ( 27548541 )
2016
40
Atypical Hemolytic Uremic Syndrome Secondary to Lupus Nephritis, Responsive to Eculizumab. ( 27781079 )
2016
41
Adjustment of Eculizumab Dosage Pattern in Patients with Atypical Hemolytic Uremic Syndrome with Suboptimal Response to Standard Treatment Pattern. ( 28025630 )
2016
42
Digital gangrene in a child with atypical hemolytic uremic syndrome associated with anti-factor H antibodies. ( 27194846 )
2016
43
Thrombotic Thrombocytopenic Purpura and Atypical Hemolytic Uremic Syndrome Microangiopathy in Pregnancy. ( 27648610 )
2016
44
Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic Syndrome. ( 27064621 )
2016
45
Atypical hemolytic uremic syndrome: a clinical conundrum. ( 27139899 )
2016
46
The Alternative Pathway of Complement and the Evolving Clinical-Pathophysiological Spectrum of Atypical Hemolytic Uremic Syndrome. ( 27524217 )
2016
47
Clinical Practice Guidelines for the Management of Atypical Hemolytic Uremic Syndrome in Korea. ( 27550478 )
2016
48
Atypical hemolytic uremic syndrome in the setting of complement-amplifying conditions: case reports and a review of the evidence for treatment with eculizumab. ( 27848226 )
2016
49
Heterogeneity but individual constancy of epitopes, isotypes and avidity of factor H autoantibodies in atypical hemolytic uremic syndrome. ( 26703217 )
2016
50
Clinical guides for atypical hemolytic uremic syndrome in Japan. ( 27460397 )
2016

Variations for Hemolytic Uremic Syndrome, Atypical 1

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

75 (show all 31)
# Symbol AA change Variation ID SNP ID
1 CFH p.Leu1189Arg VAR_019407
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
6 CFH p.Gln950His VAR_025867 rs149474608
7 CFH p.Tyr951His VAR_025868
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
19 CFH p.Val1197Ala VAR_025883 rs460184
20 CFH p.Glu1198Ala VAR_025884
21 CFH p.Arg1215Gly VAR_025886
22 CFH p.Pro1226Ser VAR_025888
23 CFH p.Gln400Lys VAR_031980
24 CFH p.Cys673Tyr VAR_031983
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
30 CFH p.Ile1169Leu VAR_063650
31 CFH p.Trp1183Cys VAR_063651

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

6
(show top 50) (show all 648)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFHR1; CFHR3 NC_000001.11: g.(196753076_?)_(?_196839375)del deletion Pathogenic,risk factor GRCh37 Chromosome 1, 196722206: 196808505
2 CFHR1; CFHR3 NC_000001.11: g.(196753076_?)_(?_196839375)del deletion Pathogenic,risk factor GRCh38 Chromosome 1, 196753076: 196839375
3 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh37 Chromosome 6, 31914180: 31914180
4 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh38 Chromosome 6, 31946403: 31946403
5 CFH NM_000186.3(CFH): c.3643C> G (p.Arg1215Gly) single nucleotide variant risk factor rs121913051 GRCh37 Chromosome 1, 196716390: 196716390
6 CFH NM_000186.3(CFH): c.3643C> G (p.Arg1215Gly) single nucleotide variant risk factor rs121913051 GRCh38 Chromosome 1, 196747260: 196747260
7 CFH NM_000186.3(CFH): c.3572C> T (p.Ser1191Leu) single nucleotide variant Pathogenic,risk factor rs460897 GRCh37 Chromosome 1, 196716319: 196716319
8 CFH NM_000186.3(CFH): c.3572C> T (p.Ser1191Leu) single nucleotide variant Pathogenic,risk factor rs460897 GRCh38 Chromosome 1, 196747189: 196747189
9 CFH NM_000186.3(CFH): c.3677_*4del24 deletion risk factor rs796052136 GRCh37 Chromosome 1, 196716424: 196716447
10 CFH NM_000186.3(CFH): c.3677_*4del24 deletion risk factor rs796052136 GRCh38 Chromosome 1, 196747294: 196747317
11 CFH NM_000186.3(CFH): c.3566T> G (p.Leu1189Arg) single nucleotide variant risk factor rs121913055 GRCh37 Chromosome 1, 196716313: 196716313
12 CFH NM_000186.3(CFH): c.3566T> G (p.Leu1189Arg) single nucleotide variant risk factor rs121913055 GRCh38 Chromosome 1, 196747183: 196747183
13 CFH NM_000186.3(CFH): c.83_86delGAAA (p.Arg28Ilefs) deletion risk factor rs796052137 GRCh37 Chromosome 1, 196642132: 196642135
14 CFH NM_000186.3(CFH): c.83_86delGAAA (p.Arg28Ilefs) deletion risk factor rs796052137 GRCh38 Chromosome 1, 196673002: 196673005
15 CFH NM_000186.3(CFH): c.2697T> A (p.Tyr899Ter) single nucleotide variant risk factor rs121913057 GRCh37 Chromosome 1, 196706705: 196706705
16 CFH NM_000186.3(CFH): c.2697T> A (p.Tyr899Ter) single nucleotide variant risk factor rs121913057 GRCh38 Chromosome 1, 196737575: 196737575
17 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic,risk factor rs121913059 GRCh37 Chromosome 1, 196716375: 196716375
18 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic,risk factor rs121913059 GRCh38 Chromosome 1, 196747245: 196747245
19 CFH NM_000186.3(CFH): c.3514G> T (p.Glu1172Ter) single nucleotide variant risk factor rs121913060 GRCh37 Chromosome 1, 196716261: 196716261
20 CFH NM_000186.3(CFH): c.3514G> T (p.Glu1172Ter) single nucleotide variant risk factor rs121913060 GRCh38 Chromosome 1, 196747131: 196747131
21 CFH NM_000186.3(CFH): c.3592G> T (p.Glu1198Ter) single nucleotide variant risk factor rs121913063 GRCh37 Chromosome 1, 196716339: 196716339
22 CFH NM_000186.3(CFH): c.3592G> T (p.Glu1198Ter) single nucleotide variant risk factor rs121913063 GRCh38 Chromosome 1, 196747209: 196747209
23 CFH; CFHR1; CFHR3 NC_000001.11 deletion Pathogenic GRCh37 Chromosome 1, 196712876: 196797546
24 CFH; CFHR1; CFHR3 NC_000001.11 deletion Pathogenic GRCh38 Chromosome 1, 196743746: 196828416
25 CFH NM_000186.3(CFH): c.3590T> C (p.Val1197Ala) single nucleotide variant Pathogenic rs460184 GRCh37 Chromosome 1, 196716337: 196716337
26 CFH NM_000186.3(CFH): c.3590T> C (p.Val1197Ala) single nucleotide variant Pathogenic rs460184 GRCh38 Chromosome 1, 196747207: 196747207
27 BAAT NM_001701.3(BAAT): c.858C> G (p.Ser286=) single nucleotide variant Pathogenic rs80356746 GRCh37 Chromosome 9, 104125109: 104125109
28 BAAT NM_001701.3(BAAT): c.858C> G (p.Ser286=) single nucleotide variant Pathogenic rs80356746 GRCh38 Chromosome 9, 101362827: 101362827
29 BAAT NM_001701.3(BAAT): c.967A> G (p.Ile323Val) single nucleotide variant Pathogenic rs80356747 GRCh37 Chromosome 9, 104125000: 104125000
30 BAAT NM_001701.3(BAAT): c.967A> G (p.Ile323Val) single nucleotide variant Pathogenic rs80356747 GRCh38 Chromosome 9, 101362718: 101362718
31 DGKE NM_003647.2(DGKE): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic,risk factor rs148605410 GRCh37 Chromosome 17, 54912188: 54912188
32 DGKE NM_003647.2(DGKE): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic,risk factor rs148605410 GRCh38 Chromosome 17, 56834827: 56834827
33 DGKE NM_003647.2(DGKE): c.818G> C (p.Arg273Pro) single nucleotide variant Likely pathogenic,risk factor rs312262695 GRCh37 Chromosome 17, 54925356: 54925356
34 DGKE NM_003647.2(DGKE): c.818G> C (p.Arg273Pro) single nucleotide variant Likely pathogenic,risk factor rs312262695 GRCh38 Chromosome 17, 56847995: 56847995
35 DGKE NM_003647.2(DGKE): c.1000C> T (p.Gln334Ter) single nucleotide variant Likely pathogenic rs312262697 GRCh37 Chromosome 17, 54926168: 54926168
36 DGKE NM_003647.2(DGKE): c.1000C> T (p.Gln334Ter) single nucleotide variant Likely pathogenic rs312262697 GRCh38 Chromosome 17, 56848807: 56848807
37 DGKE NM_003647.2(DGKE): c.472_473insT (p.Trp158Leufs) insertion Likely pathogenic rs312262698 GRCh37 Chromosome 17, 54921387: 54921387
38 DGKE NM_003647.2(DGKE): c.472_473insT (p.Trp158Leufs) insertion Likely pathogenic rs312262698 GRCh38 Chromosome 17, 56844026: 56844026
39 DGKE NM_003647.2(DGKE): c.486dupA (p.Val163Serfs) duplication Likely pathogenic,risk factor rs312262699 GRCh37 Chromosome 17, 54921401: 54921401
40 DGKE NM_003647.2(DGKE): c.486dupA (p.Val163Serfs) duplication Likely pathogenic,risk factor rs312262699 GRCh38 Chromosome 17, 56844040: 56844040
41 DGKE NM_003647.2(DGKE): c.889-1G> A single nucleotide variant Likely pathogenic rs312262696 GRCh37 Chromosome 17, 54926056: 54926056
42 DGKE NM_003647.2(DGKE): c.889-1G> A single nucleotide variant Likely pathogenic rs312262696 GRCh38 Chromosome 17, 56848695: 56848695
43 DGKE NM_003647.2(DGKE): c.966G> A (p.Trp322Ter) single nucleotide variant Likely pathogenic,risk factor rs138924661 GRCh37 Chromosome 17, 54926134: 54926134
44 DGKE NM_003647.2(DGKE): c.966G> A (p.Trp322Ter) single nucleotide variant Likely pathogenic,risk factor rs138924661 GRCh38 Chromosome 17, 56848773: 56848773
45 C3AR1 NM_004054.3(C3AR1): c.355_356dupGA (p.Asp119Glufs) duplication Likely pathogenic rs869312973 GRCh37 Chromosome 12, 8212426: 8212427
46 C3AR1 NM_004054.3(C3AR1): c.355_356dupGA (p.Asp119Glufs) duplication Likely pathogenic rs869312973 GRCh38 Chromosome 12, 8059830: 8059831
47 C2; CFB NM_001710.5(CFB): c.1598A> G (p.Lys533Arg) single nucleotide variant Benign/Likely benign rs149101394 GRCh37 Chromosome 6, 31918154: 31918154
48 C2; CFB NM_001710.5(CFB): c.1598A> G (p.Lys533Arg) single nucleotide variant Benign/Likely benign rs149101394 GRCh38 Chromosome 6, 31950377: 31950377
49 CFB NM_001710.5(CFB): c.1697A> C (p.Glu566Ala) single nucleotide variant Likely benign rs45484591 GRCh37 Chromosome 6, 31918468: 31918468
50 CFB NM_001710.5(CFB): c.1697A> C (p.Glu566Ala) single nucleotide variant Likely benign rs45484591 GRCh38 Chromosome 6, 31950691: 31950691

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

7
# CNVD ID Chromosom 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:

37
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

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 blood microparticle GO:0072562 8.8 CFH CFHR1 CFHR3

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

# Name GO ID Score Top Affiliating Genes
1 complement activation GO:0006956 9.32 CFH CFHR1
2 negative regulation of protein binding GO:0032091 9.26 CFHR1 CFHR5
3 complement activation, alternative pathway GO:0006957 9.16 CFH CFHR5
4 positive regulation of cytolysis GO:0045919 8.96 CFHR1 CFHR5
5 regulation of complement activation GO:0030449 8.92 CFH CFHR1 CFHR4 CFHR5

Sources for Hemolytic Uremic Syndrome, Atypical 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....