AHUS1
MCID: HML033
MIFTS: 66

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 53 37 29 6 73
Atypical Hemolytic-Uremic Syndrome 12 25 59 15
Ahus 53 25 59 75
Hemolytic Uremic Syndrome, Atypical, Susceptibility to 57 29 6
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. Affiliated tissues include kidney, liver and bone, and related phenotypes are proteinuria and thrombocytopenia

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

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.

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.

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 196)
# Related Disease Score Top Affiliating Genes
1 complement factor h deficiency 33.0 CD46 CFH CFHR1 CFI
2 nephrotic syndrome, type 7 32.1 CFH DGKE
3 thrombotic thrombocytopenic purpura 30.7 ADAMTS13 CD46 CFH THBD
4 purpura 30.7 ADAMTS13 C4B THBD
5 hemolytic anemia 30.5 ADAMTS13 C3 CFH CFI
6 c3 glomerulopathy 30.5 C3 CFB CFHR1 CFHR3 CFHR5 CFP
7 catastrophic antiphospholipid syndrome 30.4 ADAMTS13 CFH
8 hemolytic-uremic syndrome 30.3 ADAMTS13 C3 CD46 CFB CFH CFHR1
9 thrombotic thrombocytopenic purpura, congenital 30.3 ADAMTS13 CFH
10 glomerulonephritis 30.3 C3 C4B CD46 CFH CFHR5 CFI
11 pneumococcal meningitis 30.3 C3 C5
12 hellp syndrome 30.2 ADAMTS13 CD46 CFH CFI THBD
13 membranoproliferative glomerulonephritis 30.2 C3 CD46 CFB CFH CFHR5 CFP
14 pediatric systemic lupus erythematosus 30.2 C3 C4B
15 acute poststreptococcal glomerulonephritis 30.0 C5 CFP
16 enterocolitis 29.9 C3 CD46 CFB CFH CFHR1 CFHR3
17 systemic lupus erythematosus 29.7 ADAMTS13 C3 C4B C5 CFB CFH
18 macular degeneration, age-related, 1 29.6 C3 CD46 CFB CFH CFHR1 CFHR3
19 genetic atypical hemolytic-uremic syndrome 12.7
20 hemolytic uremic syndrome, atypical, childhood 12.7
21 atypical hemolytic-uremic syndrome with h factor anomaly 12.4
22 d-minus hemolytic uremic syndrome 12.4
23 d-plus hemolytic uremic syndrome 12.4
24 shigellosis 11.8
25 hemolytic uremic syndrome, atypical 2 11.6
26 hemolytic uremic syndrome, atypical 3 11.6
27 hemolytic uremic syndrome, atypical 4 11.6
28 hemolytic uremic syndrome, atypical 5 11.6
29 hemolytic uremic syndrome, atypical 6 11.6
30 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 11.5
31 pancreatitis, pediatric 11.3
32 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 10.5
33 influenza 10.4
34 pancreatitis 10.4
35 malaria 10.3
36 clostridium difficile colitis 10.3
37 nephrosclerosis 10.3
38 plasmodium vivax malaria 10.3
39 ulcerative colitis 10.3
40 colitis 10.3
41 malignant hypertension 10.3
42 iga glomerulonephritis 10.3
43 de novo thrombotic microangiopathy after kidney transplantation 10.3 CFH CFI
44 familial drusen 10.3 CFH CFI
45 multifocal choroiditis 10.2 CFB CFH
46 prostate cancer 10.2
47 disseminated intravascular coagulation 10.2
48 nephrotic syndrome 10.2
49 acute pancreatitis 10.2
50 kidney cortex necrosis 10.2

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 acute kidney injury 59 32 hallmark (90%) Very frequent (99-80%) HP:0001919
5 microangiopathic hemolytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001937
6 abnormal lactate dehydrogenase activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0045040
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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 ADAMTS13 C3 C4B C5 CFB CFH
2 renal/urinary system MP:0005367 9.23 C3 C4B C5 CFB CFH CFI

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 1

Search Clinical Trials , 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, Liver, Bone, Heart, Pancreas, Myeloid, Bone Marrow

Publications for Hemolytic Uremic Syndrome, Atypical 1

Articles related to Hemolytic Uremic Syndrome, Atypical 1:

(show top 50) (show all 478)
# 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
Erratum to Ulcerative Colitis and Atypical Hemolytic-Uremic Syndrome: An Unusual But Potentially Life-threatening Complication. ( 30407527 )
2018
18
A rare case of Alport syndrome, atypical hemolytic uremic syndrome and Pauci-immune crescentic glomerulonephritis. ( 30541482 )
2018
19
Atypical Hemolytic Uremic Syndrome Presenting as Pre-eclampsia in a 24-year-old Woman with Chronic Kidney Disease: Pathogenesis and Genetics. ( 30510868 )
2018
20
An adult case of atypical hemolytic uremic syndrome presented with posterior reversible encephalopathy syndrome: Successful response to late-onset eculizumab treatment. ( 30344987 )
2018
21
Atypical hemolytic uremic syndrome: Review of clinical presentation, diagnosis and management. ( 30031798 )
2018
22
Safety and effectiveness of eculizumab for pediatric patients with atypical hemolytic-uremic syndrome in Japan: interim analysis of post-marketing surveillance. ( 30039480 )
2018
23
Extra-renal manifestations of atypical hemolytic uremic syndrome. ( 30109445 )
2018
24
Atypical Hemolytic Uremic Syndrome: Beyond Hemolysis and Uremia. ( 30145224 )
2018
25
Nephromegaly in an infant with atypical hemolytic-uremic syndrome resolving successfully with eculizumab. ( 30152436 )
2018
26
Effect of Immunosuppressive Therapy on the Occurrence of Atypical Hemolytic Uremic Syndrome in Renal Transplant Recipients. ( 30190449 )
2018
27
Eculizumab Modifies Outcomes in Adults with Atypical Hemolytic Uremic Syndrome with Acute Kidney Injury. ( 30205388 )
2018
28
Insights into pregnancy associated and atypical hemolytic uremic syndrome. ( 30214480 )
2018
29
Atypical hemolytic uremic syndrome: a new drug program and first Polish adult patient treated with eculizumab. ( 30240381 )
2018
30
Successful Treatment of Renal Infiltration Complicated by Atypical Hemolytic Uremic Syndrome in a Leukemic Child. ( 30271006 )
2018
31
Hypertensive Crisis and Refractory Hypertension Caused by Atypical Hemolytic Uremic Syndrome and Effect of Eculizumab. ( 30271097 )
2018
32
Diagnostic Utility of Complement Serology for Atypical Hemolytic Uremic Syndrome. ( 30286829 )
2018
33
Atypical Hemolytic-Uremic Syndrome: An Update on Pathophysiology, Diagnosis, and Treatment. ( 30294946 )
2018
34
Immunological features and functional analysis of anti-CFH autoantibodies in patients with atypical hemolytic uremic syndrome. ( 30315407 )
2018
35
Haploidentical Hematopoietic Stem Cell Transplant complicated by Atypical Hemolytic Uremic Syndrome and Kidney Transplant from the same donor with no Immunosuppression but C5 Inhibition. ( 30365467 )
2018
36
Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome. ( 30377230 )
2018
37
Pathogenesis of Atypical Hemolytic Uremic Syndrome. ( 30393246 )
2018
38
Eculizumab in atypical hemolytic uremic syndrome: strategies toward restrictive use. ( 30402748 )
2018
39
A case of atypical hemolytic uremic syndrome in a second renal transplant. ( 28224376 )
2018
40
Reversal of threatening blindness after initiation of eculizumab in Purtscher-like retinopathy secondary to atypical hemolytic uremic syndrome. ( 28275964 )
2018
41
Successful Treatment of Transplantation-associated Atypical Hemolytic Uremic Syndrome With Eculizumab. ( 28538511 )
2018
42
Recurrent Atypical Hemolytic Uremic Syndrome in Children With Acute Lymphoblastic Leukemia Undergoing Maintenance Chemotherapy. ( 28991131 )
2018
43
Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome. ( 28993505 )
2018
44
Complement functional tests for monitoring eculizumab treatment in patients with atypical hemolytic uremic syndrome: an update. ( 29046944 )
2018
45
Atypical Hemolytic Uremic Syndrome in Low Resource Settings: Which Options Do We Have? ( 29057597 )
2018
46
Belgian consensus statement on the diagnosis and management of patients with atypical hemolytic uremic syndrome. ( 29058539 )
2018
47
Genetic predisposition to infection in a case of atypical hemolytic uremic syndrome. ( 29215086 )
2018
48
Hepatotoxicity associated with eculizumab in a patient with atypical hemolytic uremic syndrome. ( 29221881 )
2018
49
Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation and IgA Nephropathy: A Case Report Successfully Treated with Eculizumab. ( 29241200 )
2018
50
Clinical characteristics and genetic backgrounds of Japanese patients with atypical hemolytic uremic syndrome. ( 29511899 )
2018

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 662)
# 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 THBD NM_000361.2(THBD): c.1456G> T (p.Asp486Tyr) single nucleotide variant Benign rs41348347 GRCh37 Chromosome 20, 23028686: 23028686
4 THBD NM_000361.2(THBD): c.1456G> T (p.Asp486Tyr) single nucleotide variant Benign rs41348347 GRCh38 Chromosome 20, 23048049: 23048049
5 THBD NM_000361.2(THBD): c.127G> A (p.Ala43Thr) single nucleotide variant Likely benign rs1800576 GRCh37 Chromosome 20, 23030015: 23030015
6 THBD NM_000361.2(THBD): c.127G> A (p.Ala43Thr) single nucleotide variant Likely benign rs1800576 GRCh38 Chromosome 20, 23049378: 23049378
7 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh37 Chromosome 6, 31914180: 31914180
8 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh38 Chromosome 6, 31946403: 31946403
9 C2; CFB NM_001710.5(CFB): c.94C> T (p.Arg32Trp) single nucleotide variant Benign rs12614 GRCh37 Chromosome 6, 31914179: 31914179
10 C2; CFB NM_001710.5(CFB): c.94C> T (p.Arg32Trp) single nucleotide variant Benign rs12614 GRCh38 Chromosome 6, 31946402: 31946402
11 C2; CFB NM_001710.5(CFB): c.26T> A (p.Leu9His) single nucleotide variant Conflicting interpretations of pathogenicity rs4151667 GRCh37 Chromosome 6, 31914024: 31914024
12 C2; CFB NM_001710.5(CFB): c.26T> A (p.Leu9His) single nucleotide variant Conflicting interpretations of pathogenicity rs4151667 GRCh38 Chromosome 6, 31946247: 31946247
13 CFH NM_000186.3(CFH): c.3643C> G (p.Arg1215Gly) single nucleotide variant risk factor rs121913051 GRCh37 Chromosome 1, 196716390: 196716390
14 CFH NM_000186.3(CFH): c.3643C> G (p.Arg1215Gly) single nucleotide variant risk factor rs121913051 GRCh38 Chromosome 1, 196747260: 196747260
15 CFH NM_000186.3(CFH): c.3572C> T (p.Ser1191Leu) single nucleotide variant Pathogenic,risk factor rs460897 GRCh37 Chromosome 1, 196716319: 196716319
16 CFH NM_000186.3(CFH): c.3572C> T (p.Ser1191Leu) single nucleotide variant Pathogenic,risk factor rs460897 GRCh38 Chromosome 1, 196747189: 196747189
17 CFH NM_000186.3(CFH): c.3677_*4del24 deletion risk factor rs796052136 GRCh37 Chromosome 1, 196716424: 196716447
18 CFH NM_000186.3(CFH): c.3677_*4del24 deletion risk factor rs796052136 GRCh38 Chromosome 1, 196747294: 196747317
19 CFH NM_000186.3(CFH): c.3566T> G (p.Leu1189Arg) single nucleotide variant risk factor rs121913055 GRCh37 Chromosome 1, 196716313: 196716313
20 CFH NM_000186.3(CFH): c.3566T> G (p.Leu1189Arg) single nucleotide variant risk factor rs121913055 GRCh38 Chromosome 1, 196747183: 196747183
21 CFH NM_000186.3(CFH): c.184G> A (p.Val62Ile) single nucleotide variant Benign rs800292 GRCh37 Chromosome 1, 196642233: 196642233
22 CFH NM_000186.3(CFH): c.184G> A (p.Val62Ile) single nucleotide variant Benign rs800292 GRCh38 Chromosome 1, 196673103: 196673103
23 CFH NM_000186.3(CFH): c.83_86delGAAA (p.Arg28Ilefs) deletion risk factor rs796052137 GRCh37 Chromosome 1, 196642132: 196642135
24 CFH NM_000186.3(CFH): c.83_86delGAAA (p.Arg28Ilefs) deletion risk factor rs796052137 GRCh38 Chromosome 1, 196673002: 196673005
25 CFH NM_000186.3(CFH): c.2697T> A (p.Tyr899Ter) single nucleotide variant risk factor rs121913057 GRCh37 Chromosome 1, 196706705: 196706705
26 CFH NM_000186.3(CFH): c.2697T> A (p.Tyr899Ter) single nucleotide variant risk factor rs121913057 GRCh38 Chromosome 1, 196737575: 196737575
27 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic,risk factor rs121913059 GRCh37 Chromosome 1, 196716375: 196716375
28 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic,risk factor rs121913059 GRCh38 Chromosome 1, 196747245: 196747245
29 CFH NM_000186.3(CFH): c.3514G> T (p.Glu1172Ter) single nucleotide variant risk factor rs121913060 GRCh37 Chromosome 1, 196716261: 196716261
30 CFH NM_000186.3(CFH): c.3514G> T (p.Glu1172Ter) single nucleotide variant risk factor rs121913060 GRCh38 Chromosome 1, 196747131: 196747131
31 CFH NM_000186.3(CFH): c.3592G> T (p.Glu1198Ter) single nucleotide variant risk factor rs121913063 GRCh37 Chromosome 1, 196716339: 196716339
32 CFH NM_000186.3(CFH): c.3592G> T (p.Glu1198Ter) single nucleotide variant risk factor rs121913063 GRCh38 Chromosome 1, 196747209: 196747209
33 C3 NM_000064.3(C3): c.941C> T (p.Pro314Leu) single nucleotide variant Benign rs1047286 GRCh37 Chromosome 19, 6713262: 6713262
34 C3 NM_000064.3(C3): c.941C> T (p.Pro314Leu) single nucleotide variant Benign rs1047286 GRCh38 Chromosome 19, 6713251: 6713251
35 CFH; CFHR1; CFHR3 NC_000001.11 deletion Pathogenic GRCh37 Chromosome 1, 196712876: 196797546
36 CFH; CFHR1; CFHR3 NC_000001.11 deletion Pathogenic GRCh38 Chromosome 1, 196743746: 196828416
37 CFH NM_000186.3(CFH): c.3590T> C (p.Val1197Ala) single nucleotide variant Pathogenic rs460184 GRCh37 Chromosome 1, 196716337: 196716337
38 CFH NM_000186.3(CFH): c.3590T> C (p.Val1197Ala) single nucleotide variant Pathogenic rs460184 GRCh38 Chromosome 1, 196747207: 196747207
39 BAAT NM_001701.3(BAAT): c.858C> G (p.Ser286=) single nucleotide variant Pathogenic rs80356746 GRCh37 Chromosome 9, 104125109: 104125109
40 BAAT NM_001701.3(BAAT): c.858C> G (p.Ser286=) single nucleotide variant Pathogenic rs80356746 GRCh38 Chromosome 9, 101362827: 101362827
41 BAAT NM_001701.3(BAAT): c.967A> G (p.Ile323Val) single nucleotide variant Pathogenic rs80356747 GRCh37 Chromosome 9, 104125000: 104125000
42 BAAT NM_001701.3(BAAT): c.967A> G (p.Ile323Val) single nucleotide variant Pathogenic rs80356747 GRCh38 Chromosome 9, 101362718: 101362718
43 DGKE NM_003647.2(DGKE): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic,risk factor rs148605410 GRCh37 Chromosome 17, 54912188: 54912188
44 DGKE NM_003647.2(DGKE): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic,risk factor rs148605410 GRCh38 Chromosome 17, 56834827: 56834827
45 DGKE NM_003647.2(DGKE): c.818G> C (p.Arg273Pro) single nucleotide variant Likely pathogenic,risk factor rs312262695 GRCh37 Chromosome 17, 54925356: 54925356
46 DGKE NM_003647.2(DGKE): c.818G> C (p.Arg273Pro) single nucleotide variant Likely pathogenic,risk factor rs312262695 GRCh38 Chromosome 17, 56847995: 56847995
47 CFI NM_000204.4(CFI): c.782G> A (p.Gly261Asp) single nucleotide variant Likely benign rs112534524 GRCh37 Chromosome 4, 110681527: 110681527
48 CFI NM_000204.4(CFI): c.782G> A (p.Gly261Asp) single nucleotide variant Likely benign rs112534524 GRCh38 Chromosome 4, 109760371: 109760371
49 DGKE NM_003647.2(DGKE): c.1000C> T (p.Gln334Ter) single nucleotide variant Likely pathogenic rs312262697 GRCh37 Chromosome 17, 54926168: 54926168
50 DGKE NM_003647.2(DGKE): c.1000C> T (p.Gln334Ter) single nucleotide variant Likely pathogenic rs312262697 GRCh38 Chromosome 17, 56848807: 56848807

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 extracellular region GO:0005576 9.93 ADAMTS13 C3 C4B C5 CFB CFH
2 extracellular exosome GO:0070062 9.86 C3 C4B C5 CD46 CFB CFH
3 protein-containing complex GO:0032991 9.72 C3 CFHR1 CFHR2 CFHR5 RAPGEF1
4 extracellular space GO:0005615 9.7 ADAMTS13 C3 C4B C5 CFB CFH
5 blood microparticle GO:0072562 9.1 C3 C4B CFB CFH CFHR1 CFHR3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.91 ADAMTS13 C3 C4B CFB CFI CFP
2 immune system process GO:0002376 9.88 C3 C4B C5 CD46 CFB
3 innate immune response GO:0045087 9.86 C3 C4B C5 CD46 CFB CFH
4 complement activation, classical pathway GO:0006958 9.77 C3 C4B C5 CD46 CFI
5 complement activation GO:0006956 9.7 C3 C4B C5 CFB CFH CFHR1
6 negative regulation of endopeptidase activity GO:0010951 9.67 C3 C4B C5
7 negative regulation of protein binding GO:0032091 9.63 CFHR1 CFHR2 CFHR5
8 positive regulation of vascular endothelial growth factor production GO:0010575 9.51 C3 C5
9 positive regulation of cytolysis GO:0045919 9.5 CFHR1 CFHR2 CFHR5
10 complement activation, alternative pathway GO:0006957 9.43 C3 C5 CFB CFH CFHR5 CFP
11 positive regulation of apoptotic cell clearance GO:2000427 9.4 C3 C4B
12 regulation of complement activation GO:0030449 9.4 C3 C4B C5 CD46 CFB CFH

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

# Name GO ID Score Top Affiliating Genes
1 complement binding GO:0001848 9.16 C4B CFB
2 endopeptidase inhibitor activity GO:0004866 9.13 C3 C4B C5
3 serine-type endopeptidase activity GO:0004252 9.02 C3 C4B CFB CFI CFP

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
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49 NCI
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51 NDF-RT
54 NINDS
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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
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