MCID: HML033
MIFTS: 49

Hemolytic Uremic Syndrome, Atypical 1

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

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 1

MalaCards integrated aliases for Hemolytic Uremic Syndrome, Atypical 1:

Name: Hemolytic Uremic Syndrome, Atypical 1 53
Atypical Hemolytic Uremic Syndrome 49 36 28 69
Ahus 49 24 55 71
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1 53 13
Hemolytic Uremic Syndrome, Atypical, Susceptibility to 53 28
Hemolytic-Uremic Syndrome Without Diarrhea 55 71
Atypical Hemolytic-Uremic Syndrome 24 55
Hemolytic-Uremic Syndrome 71 69
Atypical Hus 49 55
Ahus1 53 71
Hemolytic-Uremic Syndrome Without Diarrhea with Anti-Factor H Antibodies 55
Atypical Hemolytic-Uremic Syndrome with Anti-Factor H Antibodies 55
Atypical Hemolytic Uremic Syndrome with H Factor Anomaly 71
Atypical Hus with Anti-Factor H Antibodies 55
Hemolytic-Uremic Syndrome with Diarrhea 55
Hemolytic Uremic Syndrome Atypical 1 71
Atypical Hemolytic-Uremic Syndrome 1 28
Hemolytic Uremic Syndrome, Atypical 53
Non-Shiga-Like Toxin-Associated Hus 24
D-Hus with Anti-Factor H Antibodies 55
Ahus with Anti-Factor H Antibodies 55
Hemolytic Uremic Syndrome, Typical 69
Typical Hemolytic-Uremic Syndrome 55
Shiga-Like Toxin-Associated Hus 55
Ahus, Susceptibility to, 1 53
Nonenteropathic Hus 24
Hus, Atypical 49
Non-Stx-Hus 24
Typical Hus 55
Sxt-Hus 55
Ahus 1 53
D-Hus 55
D+hus 55
D Hus 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
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 recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemolytic Uremic Syndrome, Atypical 1

NIH Rare Diseases : 49 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. Last updated: 1/23/2017

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, and has symptoms including proteinuria, thrombocytopenia and hematuria. 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 Immune response Lectin induced complement pathway. The drugs Complement System Proteins and Complement Inactivating Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney.

OMIM : 53 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 : 71 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 : 24 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.

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:

53
Metabolic Features:
fever

Hematology:
thrombocytopenia
reticulocytosis
microangiopathic hemolytic anemia
thrombotic microangiopathy
schistocytes
more
Genitourinary Kidneys:
acute renal failure
anuria

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

Neurologic Central Nervous System:
seizures
hemiparesis
dysphasia
coma
global and focal neurologic abnormalities (less than 30%)
more
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:

55 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0000093
2 thrombocytopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001873
3 hematuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0000790
4 abnormal lactate dehydrogenase activity 55 31 hallmark (90%) Very frequent (99-80%) HP:0045040
5 acute kidney injury 55 31 hallmark (90%) Very frequent (99-80%) HP:0001919
6 microangiopathic hemolytic anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001937
7 decreased serum complement factor i 55 31 frequent (33%) Frequent (79-30%) HP:0005356
8 decreased serum complement factor b 55 31 frequent (33%) Frequent (79-30%) HP:0005416
9 decreased level of thrombomodulin 55 31 frequent (33%) Frequent (79-30%) HP:0040229
10 fever 31 HP:0001945
11 seizures 31 HP:0001250
12 diarrhea 31 HP:0002014
13 hemiparesis 31 HP:0001269
14 hypertension 31 HP:0000822
15 dysphasia 31 HP:0002357
16 cognitive impairment 31 HP:0100543
17 abnormality of metabolism/homeostasis 55 Very frequent (99-80%)
18 hyperlipidemia 31 HP:0003077
19 coma 31 HP:0001259
20 purpura 31 HP:0000979
21 reticulocytosis 31 HP:0001923
22 elevated serum creatinine 31 HP:0003259
23 abnormality of blood and blood-forming tissues 55 Very frequent (99-80%)
24 complement deficiency 55 Frequent (79-30%)
25 abnormality of complement system 55 Frequent (79-30%)
26 increased blood urea nitrogen 31 HP:0003138
27 decreased serum complement c3 31 HP:0005421
28 anuria 31 HP:0100519
29 hemolytic-uremic syndrome 31 HP:0005575
30 decreased serum complement factor h 31 HP:0005369
31 schistocytosis 31 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,Not Applicable
2 Complement Inactivating Agents Phase 3

Interventional clinical trials:

(show all 25)

# 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 An Open-label, Multi-center Clinical Trial of Eculizumab in Adult Patients With Atypical Hemolytic-uremic Syndrome Completed NCT01194973 Phase 2 Eculizumab
7 An Open-Label, Multi-Center Clinical Trial of Eculizumab in Pediatric Patients With Atypical Hemolytic-Uremic Syndrome Completed NCT01193348 Phase 2 Eculizumab
8 Open Label Controlled Trial of Eculizumab in Adult Patients With Plasma Therapy-sensitive Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT00838513 Phase 2 eculizumab
9 Open Label Controlled Trial of Eculizumab in Adult Patients With Plasma Therapy-Resistant aHUS Completed NCT00844545 Phase 2 Eculizumab
10 Open Label Controlled Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Resistant aHUS Completed NCT00844844 Phase 2 Eculizumab
11 Open Label Controlled Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Sensitive aHUS Completed NCT00844428 Phase 2 eculizumab
12 The Safety and Efficacy of Eculizumab in Japanese Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT01757431 Phase 2 Eculizumab
13 A Study of an Investigational Drug, Cemdisiran (ALN-CC5), in Patients With Atypical Hemolytic Uremic Syndrome Recruiting NCT03303313 Phase 2 Cemdisiran
14 Safety and Efficacy Study of OMS721 in Patients With Thrombotic Microangiopathies Recruiting NCT02222545 Phase 2
15 Complement Inhibition in aHUS Dialysis Patients Terminated NCT02464891 Phase 2 CCX168
16 Complement Activation During Hemodialysis in Atypical Hemolytic Uraemic Syndrome as Underlying Kidney Disease Unknown status NCT00930423 Not Applicable
17 A Retrospective, Observational, Non-interventional Trial to Assess Eculizumab Treatment Effect in Patients With Atypical Hemolytic Uremic Syndrome (aHUS) Completed NCT01770951 Not Applicable
18 To Characterize the Safety and Tolerability of Eculizumab in Two Japanese aHUS Patients Completed NCT01755429
19 Haemolytic Uraemic Syndrome in Childhood: Clinical, Cognitive and Psychological Aspects Completed NCT01666548
20 Atypcial Hemolytic-Uremic Syndrome (aHUS) Registry Recruiting NCT01522183
21 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
22 Study of 'Vascular Competence' Profile and Endothelial Activation in the Hemolytic Uremic Syndrome in Children and Adults Recruiting NCT02904863 Not Applicable
23 The Role of Microparticles as a Biomarker Enrolling by invitation NCT02626663
24 aHUS Observational Long Term Follow-Up Terminated NCT01522170
25 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 28 CFH CFHR1 CFHR3
2 Atypical Hemolytic Uremic Syndrome 28 CFHR4
3 Hemolytic Uremic Syndrome, Atypical, Susceptibility to 28

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 1

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

38
Kidney

Publications for Hemolytic Uremic Syndrome, Atypical 1

Articles related to Hemolytic Uremic Syndrome, Atypical 1:

(show top 50) (show all 333)
# Title Authors Year
1
Atypical hemolytic uremic syndrome: An unusual postoperative complication. ( 29426622 )
2018
2
Kidney Transplantation in Patients with Atypical Hemolytic Uremic Syndrome due to Complement Factor H Deficiency: Impact of Liver Transplantation. ( 29215813 )
2018
3
Glucose-6-Phosphate Dehydrogenase Deficiency Mimicking Atypical Hemolytic Uremic Syndrome. ( 29248304 )
2018
4
A Rare Case of Lupus Nephritis Presenting as Thrombotic Microangiopathy with Diffuse Pseudotubulization Possibly Caused by Atypical Hemolytic Uremic Syndrome. ( 29434134 )
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: A Brief Review. ( 28626544 )
2017
7
Complement System Abnormalities in Patients with Atypical Hemolytic Uremic Syndrome and Catastrophic Antiphospholipid Syndrome. ( 29308852 )
2017
8
Maternal and Fetal Outcomes of Pregnancies in Women with Atypical Hemolytic Uremic Syndrome. ( 29282226 )
2017
9
Case report: C3 glomerulopathy advancing atypical hemolytic uremic syndrome. ( 29150227 )
2017
10
Atypical hemolytic uremic syndrome triggered by varicella infection. ( 28725563 )
2017
11
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
12
Atypical Hemolytic Uremic Syndrome: Achieving Positive Patient Outcomes With Early Diagnosis and Appropriate Managementa8c. ( 28738049 )
2017
13
Living Donor Kidney Transplantation in Atypical Hemolytic Uremic Syndrome: A Case Series. ( 28821363 )
2017
14
Atypical Hemolytic Uremic Syndrome: A Meta-Analysis of Case Reports Confirms the Prevalence of Genetic Mutations and the Shift of Treatment Regimens. ( 29250893 )
2017
15
Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review. ( 29068997 )
2017
16
Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients. ( 28056875 )
2017
17
Pathogenic Variants in Complement Genes and Risk of Atypical Hemolytic Uremic Syndrome Relapse after Eculizumab Discontinuation. ( 27799617 )
2017
18
Aortic Valve Replacement as a Trigger of Atypical Hemolytic Uremic Syndrome. ( 28838521 )
2017
19
Targeting renin-angiotensin system in malignant hypertension in atypical hemolytic uremic syndrome. ( 28356668 )
2017
20
Factor H autoantibody is associated with atypical hemolytic uremic syndrome in children in the United Kingdom and Ireland. ( 28750931 )
2017
21
Discontinuation of Peritoneal Dialysis after Late Initiation of Eculizumab in a Case of Familial Atypical Hemolytic-Uremic Syndrome: A Case Report. ( 28612003 )
2017
22
A retrospective study of pregnancy-associated atypical hemolytic uremic syndrome. ( 28911789 )
2017
23
Should eculizumab be discontinued in patients with atypical hemolytic uremic syndrome? ( 28616209 )
2017
24
Two cases of atypical hemolytic uremic syndrome (aHUS) and eosinophilic granulomatosis with polyangiitis (EGPA): a possible relationship. ( 28509134 )
2017
25
Purtscher-Like Retinopathy Associated with Atypical Hemolytic Uremic Syndrome. ( 29326853 )
2017
26
From Gestational Hypertension and Preeclampsia to Atypical Hemolytic Uremic Syndrome. ( 27548541 )
2016
27
A Case Report and Literature Review of Eculizumab Withdrawal in Atypical Hemolytic-Uremic Syndrome. ( 27974740 )
2016
28
Thrombotic Thrombocytopenic Purpura and Atypical Hemolytic Uremic Syndrome Microangiopathy in Pregnancy. ( 27648610 )
2016
29
No association between dysplasminogenemia with p.Ala620Thr mutation and atypical hemolytic uremic syndrome. ( 27194432 )
2016
30
Comprehensive Analysis of Complement Genes in Patients with Atypical Hemolytic Uremic Syndrome. ( 27064621 )
2016
31
From Gestational Hypertension and Preeclampsia to Atypical Hemolytic Uremic Syndrome. ( 27054930 )
2016
32
Late onset of de novo atypical hemolytic-uremic syndrome presented on a simultaneous pancreas and kidney transplant recipient successfully treated with eculizumab. ( 27012439 )
2016
33
Clinical guides for atypical hemolytic uremic syndrome in Japan. ( 27460397 )
2016
34
A case of renal recovery in atypical hemolytic uremic syndrome treated with eculizumab. ( 27049376 )
2016
35
Prevention of recurrence of atypical hemolytic uremic syndrome post renal transplant with the use of higher-dose eculizumaba8c. ( 27616760 )
2016
36
The Alternative Pathway of Complement and the Evolving Clinical-Pathophysiological Spectrum of Atypical Hemolytic Uremic Syndrome. ( 27524217 )
2016
37
C3:CH50 ratio as a proposed composite marker for eculizumab monitoring in atypical hemolytic uremic syndrome: Preliminary results. ( 27617501 )
2016
38
Atypical Hemolytic Uremic Syndrome Secondary to Lupus Nephritis, Responsive to Eculizumab. ( 27781079 )
2016
39
Small-molecule Factor D inhibitors selectively block the alternative pathway of complement in paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome. ( 27810992 )
2016
40
Postoperative Atypical Hemolytic Uremic Syndrome Treated Successfully with Eculizumab. ( 27150874 )
2016
41
Greenbaum LA, Fila M, Ardissino G, etA al. Eculizumab is a safe and effective treatment in pediatric patients withA atypical hemolytic uremic syndrome. Kidney Int. 2016;89:701-711. ( 27521120 )
2016
42
Maintenance eculizumab dose adjustment in the treatment of atypical hemolytic uremic syndrome: a case report and review of the literature. ( 27525082 )
2016
43
Disturbed sialic acid recognition on endothelial cells and platelets in complement attack causes atypical hemolytic uremic syndrome. ( 27006390 )
2016
44
Terminal Complement Inhibitor Eculizumab in Adult Patients With Atypical Hemolytic Uremic Syndrome: A Single-Arm, Open-Label Trial. ( 27012908 )
2016
45
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
46
Digital gangrene in a child with atypical hemolytic uremic syndrome associated with anti-factor H antibodies. ( 27194846 )
2016
47
Clinical Practice Guidelines for the Management of Atypical Hemolytic Uremic Syndrome in Korea. ( 27550478 )
2016
48
Coexistence of atypical hemolytic uremic syndrome with membranoproliferative glomerulonephritis and antineutrophil cytoplasmic antibodies-associated vasculitis. ( 27424702 )
2016
49
Heterogeneity but individual constancy of epitopes, isotypes and avidity of factor H autoantibodies in atypical hemolytic uremic syndrome. ( 26703217 )
2016
50
Use of Eculizumab in Atypical Hemolytic Uremic Syndrome, Complicating Systemic Lupus Erythematosus. ( 27556240 )
2016

Variations for Hemolytic Uremic Syndrome, Atypical 1

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

71 (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 all 29)
# Gene Variation Type Significance SNP ID Assembly Location
1 THBD NM_000361.2(THBD): c.127G> A (p.Ala43Thr) single nucleotide variant risk factor rs1800576 GRCh37 Chromosome 20, 23030015: 23030015
2 C2; CFB NM_001710.5(CFB): c.95G> A (p.Arg32Gln) single nucleotide variant protective rs641153 GRCh37 Chromosome 6, 31914180: 31914180
3 CFH NM_000186.3(CFH): c.3643C> G (p.Arg1215Gly) single nucleotide variant risk factor rs121913051 GRCh37 Chromosome 1, 196716390: 196716390
4 CFH NM_000186.3(CFH): c.3572C> T (p.Ser1191Leu) single nucleotide variant Pathogenic,risk factor rs460897 GRCh37 Chromosome 1, 196716319: 196716319
5 CFH NM_000186.3(CFH): c.3677_*4del24 deletion risk factor rs796052136 GRCh37 Chromosome 1, 196716424: 196716447
6 CFH NM_000186.3(CFH): c.3566T> G (p.Leu1189Arg) single nucleotide variant risk factor rs121913055 GRCh37 Chromosome 1, 196716313: 196716313
7 CFH NM_000186.3(CFH): c.184G> A (p.Val62Ile) single nucleotide variant risk factor rs800292 GRCh37 Chromosome 1, 196642233: 196642233
8 CFH NM_000186.3(CFH): c.83_86delGAAA (p.Arg28Ilefs) deletion risk factor rs796052137 GRCh37 Chromosome 1, 196642132: 196642135
9 CFH NM_000186.3(CFH): c.2697T> A (p.Tyr899Ter) single nucleotide variant risk factor rs121913057 GRCh37 Chromosome 1, 196706705: 196706705
10 CFH NM_000186.3(CFH): c.3628C> T (p.Arg1210Cys) single nucleotide variant Pathogenic,risk factor rs121913059 GRCh37 Chromosome 1, 196716375: 196716375
11 CFH NM_000186.3(CFH): c.3514G> T (p.Glu1172Ter) single nucleotide variant risk factor rs121913060 GRCh37 Chromosome 1, 196716261: 196716261
12 CFH NM_000186.3(CFH): c.3592G> T (p.Glu1198Ter) single nucleotide variant risk factor rs121913063 GRCh37 Chromosome 1, 196716339: 196716339
13 CFH NM_000186.3(CFH): c.3590T> C (p.Val1197Ala) single nucleotide variant Pathogenic rs460184 GRCh38 Chromosome 1, 196747207: 196747207
14 CFH; CFHR1; CFHR3 NC_000001.11 deletion Pathogenic GRCh37 Chromosome 1, 196712876: 196797546
15 BAAT NM_001701.3(BAAT): c.858C> G (p.Ser286=) single nucleotide variant Pathogenic rs80356746 GRCh37 Chromosome 9, 104125109: 104125109
16 BAAT NM_001701.3(BAAT): c.967A> G (p.Ile323Val) single nucleotide variant Pathogenic rs80356747 GRCh37 Chromosome 9, 104125000: 104125000
17 DGKE NM_003647.2(DGKE): c.32C> A (p.Ser11Ter) single nucleotide variant Likely pathogenic,risk factor rs148605410 GRCh37 Chromosome 17, 54912188: 54912188
18 DGKE NM_003647.2(DGKE): c.818G> C (p.Arg273Pro) single nucleotide variant Likely pathogenic,risk factor rs312262695 GRCh37 Chromosome 17, 54925356: 54925356
19 DGKE NM_003647.2(DGKE): c.1000C> T (p.Gln334Ter) single nucleotide variant Likely pathogenic rs312262697 GRCh37 Chromosome 17, 54926168: 54926168
20 DGKE NM_003647.2(DGKE): c.472_473insT (p.Trp158Leufs) insertion Likely pathogenic rs312262698 GRCh37 Chromosome 17, 54921387: 54921387
21 DGKE NM_003647.2(DGKE): c.486dupA (p.Val163Serfs) duplication Likely pathogenic,risk factor rs312262699 GRCh37 Chromosome 17, 54921401: 54921401
22 DGKE NM_003647.2(DGKE): c.889-1G> A single nucleotide variant Likely pathogenic rs312262696 GRCh37 Chromosome 17, 54926056: 54926056
23 DGKE NM_003647.2(DGKE): c.966G> A (p.Trp322Ter) single nucleotide variant Likely pathogenic,risk factor rs138924661 GRCh37 Chromosome 17, 54926134: 54926134
24 CFHR1; CFHR3 NC_000001.11: g.(196753076_?)_(?_196839375)del deletion Pathogenic,risk factor GRCh37 Chromosome 1, 196722206: 196808505
25 C3AR1 NM_004054.3(C3AR1): c.355_356dupGA (p.Asp119Glufs) duplication Likely pathogenic rs869312973 GRCh37 Chromosome 12, 8212426: 8212427
26 CFH NM_000186.3(CFH): c.2950T> C (p.Cys984Arg) single nucleotide variant Likely pathogenic rs886039869 GRCh37 Chromosome 1, 196709916: 196709916
27 CFH NM_000186.3(CFH): c.2397delA (p.Glu800Lysfs) deletion Pathogenic rs1131690796 GRCh37 Chromosome 1, 196697636: 196697636
28 CFH NM_000186.3(CFH): c.710_711delGT (p.Cys237Terfs) deletion Pathogenic GRCh37 Chromosome 1, 196648843: 196648844
29 DGKE NM_003647.2(DGKE): c.301A> T (p.Lys101Ter) single nucleotide variant Pathogenic rs777787526 GRCh37 Chromosome 17, 54912457: 54912457

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:

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
10.75 CFH CFHR3

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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