AHUS
MCID: ATY010
MIFTS: 59

Atypical Hemolytic-Uremic Syndrome (AHUS) malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Nephrological diseases, Ear diseases, Neuronal diseases categories

Summaries for Atypical Hemolytic-Uremic Syndrome

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44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 bodyā€™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. Ā most cases are sporadic. less than 20 percent of all cases have been reported to run in families. when the disorder is familial, it can have an autosomal dominant or an autosomal recessiveĀ 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: 9/27/2010

MalaCards: Atypical Hemolytic-Uremic Syndrome, also known as atypical hemolytic uremic syndrome, is related to hemolytic-uremic syndrome and glomerulonephritis. An important gene associated with Atypical Hemolytic-Uremic Syndrome is CFHR1 (complement factor H-related 1), and among its related pathways are Staphylococcus aureus infection and Creation of C4 and C2 activators. The compounds cardiolipin and kininogen have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and skin, and related mouse phenotype renal/urinary system.

Genetics Home Reference:22 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.

Description from OMIM:48 235400,609814

GeneReviews summary for husa

Aliases & Classifications for Atypical Hemolytic-Uremic Syndrome

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 26ICD10
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Classifications:



Aliases & Descriptions:

atypical hemolytic-uremic syndrome 20 22
atypical hemolytic uremic syndrome 44 21 23 63
ahus 20 44 22
atypical hus 20 44
hemolytic-uremic syndrome without diarrhea with anti-factor h antibodies 50
atypical hemolytic-uremic syndrome with anti-factor h antibodies 50
hemolytic-uremic syndrome without diarrhea with h factor anomaly 50
atypical hemolytic-uremic syndrome with h factor anomaly 50
atypical hus with anti-factor h antibodies 50
hemolytic-uremic syndrome with diarrhea 50
hereditary hemolytic-uremic syndrome 20
hemolytic uremic syndrome, atypical 48
d-hus with anti-factor h antibodies 50
non-shiga-like toxin-associated hus 22
atypical hus with h factor anomaly 50
hemolytic uremic syndrome, typical 63
ahus with anti-factor h antibodies 50
familial hemolytic-uremic syndrome 20
typical hemolytic-uremic syndrome 50
shiga-like toxin-associated hus 50
d-hus with h factor anomaly 50
ahus with h factor anomaly 50
nonenteropathic hus 22
hus, atypical 44
non-stx-hus 22
typical hus 50
sxt-hus 50
d+hus 50


External Ids:

SNOMED-CT via Orphanet60 373421000
ICD10 via Orphanet27 D59.3, D58.8
ICD1026 D59.3

Related Diseases for Atypical Hemolytic-Uremic Syndrome

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18GeneCards, 19GeneDecks
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Diseases in the Atypical Hemolytic-Uremic Syndrome family:

Cd46-Related Atypical Hemolytic-Uremic Syndrome Cfb-Related Atypical Hemolytic-Uremic Syndrome
Cfh-Related Atypical Hemolytic-Uremic Syndrome Cfi-Related Atypical Hemolytic-Uremic Syndrome
Thbd-Related Atypical Hemolytic-Uremic Syndrome C3-Related Atypical Hemolytic-Uremic Syndrome
Dgke-Related Atypical Hemolytic-Uremic Syndrome Hemolytic Uremic Syndrome, Atypical 1
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 Atypical Hemolytic-Uremic Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic-uremic syndrome32.0CFHR1, CFHR3, CD46, THBD, CFH, CFB
2glomerulonephritis30.8CFI, C3, CFH, CD46
3complement factor h deficiency30.6CFH
4membranoproliferative glomerulonephritis30.4CD46, C3, CFH
5lupus erythematosus30.4THBD, C3
6age related macular degeneration30.4CFH, CFB, CFHR3, CFHR1, C3
7systemic lupus erythematosus30.3THBD, CFH, CFI, CD46, C3
8influenza10.5
9thrombotic thrombocytopenic purpura10.4
10hypertension10.4
11leukemia10.4
12purpura10.4
13cd46-related atypical hemolytic-uremic syndrome10.4
14cfb-related atypical hemolytic-uremic syndrome10.4
15cfh-related atypical hemolytic-uremic syndrome10.4
16cfi-related atypical hemolytic-uremic syndrome10.4
17thbd-related atypical hemolytic-uremic syndrome10.4
18cfhr3 and cfhr1-related atypical hemolytic-uremic syndrome10.4
19c3-related atypical hemolytic-uremic syndrome10.4
20cfhr1 and cfhr4-related atypical hemolytic-uremic syndrome10.4
21dgke-related atypical hemolytic-uremic syndrome10.4
22hemolytic uremic syndrome, atypical 110.4
23hemolytic uremic syndrome, atypical 210.4
24peritonitis10.3
25anuria10.3
26factor xii deficiency10.3
27homocystinuria10.3
28hepatitis b10.3
29acute leukemia10.3
30proliferative glomerulonephritis10.3
31hellp syndrome10.3
32hepatitis10.3
33lymphoblastic leukemia10.3
34malignant hypertension10.3
35pertussis10.3
36thrombophilia10.3
37hemolytic uremic syndrome, atypical, childhood10.3
38hemolytic uremic syndrome, atypical 310.3
39hemolytic uremic syndrome, atypical 410.3
40nephrotic syndrome, type 710.3
41hemolytic uremic syndrome, atypical 510.3
42hemolytic uremic syndrome, atypical 610.3
43rheumatic disease10.3
44endotheliitis10.3
45diffuse alveolar hemorrhage10.3
46pediatric systemic lupus erythematosus10.3
47retinal drusen10.1CFH
48nephropathy due to cfhr5 deficiency10.1CFHR5
49macular degeneration, age-related, reduced risk of10.1CFHR3, CFHR1
50diarrhea10.1

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



Diseases related to atypical hemolytic-uremic syndrome

Symptoms for Atypical Hemolytic-Uremic Syndrome

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48OMIM
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Symptoms by clinical synopsis from OMIM:

235400

Clinical features from OMIM:

235400,609814

Drugs & Therapeutics for Atypical Hemolytic-Uremic Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Atypical Hemolytic-Uremic Syndrome

Drug clinical trials:

Search ClinicalTrials for Atypical Hemolytic-Uremic Syndrome

Search NIH Clinical Center for Atypical Hemolytic-Uremic Syndrome

Search CenterWatch for Atypical Hemolytic-Uremic Syndrome

Genetic Tests for Atypical Hemolytic-Uremic Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Atypical Hemolytic-Uremic Syndrome:

id Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome21 23 THBD

Anatomical Context for Atypical Hemolytic-Uremic Syndrome

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34MalaCards
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MalaCards organs/tissues related to Atypical Hemolytic-Uremic Syndrome:

34
Kidney, Liver, Skin, Endothelial

Animal Models for Atypical Hemolytic-Uremic Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Atypical Hemolytic-Uremic Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3C3, CFI, CFB, CFH, THBD

Publications for Atypical Hemolytic-Uremic Syndrome

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53PubMed
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Articles related to Atypical Hemolytic-Uremic Syndrome:

(show top 50)    (show all 210)
idTitleAuthorsYear
1
Untying the knot of thrombotic thrombocytopenic purpura and atypical hemolytic uremic syndrome. (23410558)
2013
2
Eculizumab in atypical hemolytic-uremic syndrome. (24088108)
2013
3
Early infantile onset of atypical hemolytic-uremic syndrome is caused by recessive mutations in DGKE. (23875923)
2013
4
Peripheral gangrene in children with atypical hemolytic uremic syndrome. (23230076)
2013
5
Eculizumab in atypical hemolytic-uremic syndrome. (24088109)
2013
6
Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome. (23738544)
2013
7
Atypical hemolytic uremic syndrome. (24161037)
2013
8
Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome. (23243267)
2013
9
Eculizumab for atypical hemolytic uremic syndrome in pregnancy. (23884270)
2013
10
Profound neurological injury in a patient with atypical hemolytic uremic syndrome. (23139014)
2013
11
Diagnostic criteria for atypical hemolytic uremic syndrome proposed by the joint committee of the Japanese society of nephrology and the Japan pediatric society. (24343712)
2013
12
Factor I autoantibodies in patients with atypical hemolytic uremic syndrome: disease-associated or an epiphenomenon? (22223611)
2012
13
Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome. (22170528)
2012
14
Complement factor H variants I890 and L1007 while commonly associated with atypical hemolytic uremic syndrome are polymorphisms with no functional significance. (21881555)
2012
15
Atypical hemolytic uremic syndrome-associated variants and autoantibodies impair binding of factor h and factor h-related protein 1 to pentraxin 3. (22786770)
2012
16
Renal transplantation under prophylactic eculizumab in atypical hemolytic uremic syndrome with CFH/CFHR1 hybrid protein. (22494769)
2012
17
Eculizumab in the treatment of atypical hemolytic uremic syndrome in infants. (22196848)
2012
18
Atypical hemolytic uremic syndrome: what is it, how is it diagnosed, and how is it treated? (23233643)
2012
19
Posttransplant recurrence of atypical hemolytic uremic syndrome. (22760880)
2012
20
Recent advances in the management of atypical hemolytic uremic syndrome. (23073053)
2012
21
Eculizumab for atypical hemolytic uremic syndrome recurrence in renal transplantation. (22958221)
2012
22
Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria. (22447314)
2012
23
Efficacy of eculizumab in a patient with factor-H-associated atypical hemolytic uremic syndrome. (21161283)
2011
24
Successful therapeutic plasma exchange in a 3.2-kg body weight neonate with atypical hemolytic uremic syndrome. (21322001)
2011
25
Atypical hemolytic uremic syndrome in the Tunisian population. (20499172)
2011
26
Eculizumab safely reverses neurologic impairment and eliminates need for dialysis in severe atypical hemolytic uremic syndrome. (22287852)
2011
27
Atypical hemolytic-uremic syndrome (HUS) with recovery after a long-lasting anuria: a case report. (21607045)
2011
28
Diagnosis and treatment of atypical hemolytic uremic syndrome. (22252664)
2011
29
The development of atypical hemolytic uremic syndrome depends on complement C5. (21148255)
2011
30
Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families. (21694933)
2010
31
Atypical hemolytic uremic syndrome associated with mutations in complement regulator genes. (20865641)
2010
32
Triggering of atypical hemolytic uremic syndrome by influenza A (H1N1). (20540647)
2010
33
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. (19861685)
2010
34
Impact of compound heterozygous complement factor H mutations on development of atypical hemolytic uremic syndrome-A pedigree revisited. (20304497)
2010
35
Atypical hemolytic uremic syndrome: update on the complement system and what is new. (20090363)
2010
36
Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I. (19877009)
2010
37
The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome. (19454698)
2009
38
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure. (19590060)
2009
39
Atypical hemolytic uremic syndrome responsive to steroids and intravenous immune globulin. (19301397)
2009
40
Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome. (19584399)
2009
41
More on eculizumab for congenital atypical hemolytic-uremic syndrome. (19439754)
2009
42
Mutations in proteins of the alternative pathway of complement and the pathogenesis of atypical hemolytic uremic syndrome. (18423815)
2008
43
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. (18796626)
2008
44
The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models. (17089378)
2007
45
Screening for complement system abnormalities in patients with atypical hemolytic uremic syndrome. (17699467)
2007
46
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. (17367211)
2007
47
Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome. (16528247)
2006
48
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (10577907)
1999
49
Typical and atypical hemolytic uremic syndrome. (8887262)
1996
50
Atypical Hemolytic-Uremic Syndrome (20301541)
1993

Variations for Atypical Hemolytic-Uremic Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Atypical Hemolytic-Uremic Syndrome:

65 (show all 31)
id Symbol AA change Variation ID SNP ID
1CFHp.Leu1189ArgVAR_019407
2CFHp.Ser1191LeuVAR_019408rs460897
3CFHp.Arg78GlyVAR_025864
4CFHp.Cys630TrpVAR_025865
5CFHp.Glu850LysVAR_025866
6CFHp.Gln950HisVAR_025867rs149474608
7CFHp.Tyr951HisVAR_025868
8CFHp.Thr956MetVAR_025869rs145975787
9CFHp.Trp978CysVAR_025870
10CFHp.Tyr1021PheVAR_025871
11CFHp.Cys1043ArgVAR_025872
12CFHp.Val1134GlyVAR_025875
13CFHp.Tyr1142AspVAR_025876
14CFHp.Trp1157ArgVAR_025877
15CFHp.Cys1163TrpVAR_025878
16CFHp.Trp1183LeuVAR_025879
17CFHp.Trp1183ArgVAR_025880
18CFHp.Gly1194AspVAR_025882
19CFHp.Val1197AlaVAR_025883rs460184
20CFHp.Glu1198AlaVAR_025884
21CFHp.Arg1215GlyVAR_025886
22CFHp.Pro1226SerVAR_025888
23CFHp.Gln400LysVAR_031980
24CFHp.Cys673TyrVAR_031983
25CFHp.His893ArgVAR_031984
26CFHp.Cys915SerVAR_031985
27CFHp.Phe1199SerVAR_031986
28CFHp.Cys325TyrVAR_063648
29CFHp.Val609IleVAR_063649
30CFHp.Ile1169LeuVAR_063650
31CFHp.Trp1183CysVAR_063651

Clinvar genetic disease variations for Atypical Hemolytic-Uremic Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1CFHNM_000186.3(CFH): c.3572C> T (p.Ser1191Leu)single nucleotide variantPathogenic, risk factorrs460897GRCh37Chr 1, 196716319: 196716319
2CFHNM_000186.3(CFH): c.3628C> T (p.Arg1210Cys)single nucleotide variantPathogenic, risk factorrs121913059GRCh37Chr 1, 196716375: 196716375
3NC_000001.11: g.(196743746_196743798)_(196828364_196828416)deldeletionPathogenic
4CFHNM_000186.3(CFH): c.3590T> C (p.Val1197Ala)single nucleotide variantPathogenicrs460184GRCh37Chr 1, 196716337: 196716337
5BAATNM_001701.3(BAAT): c.858C> G (p.Ser286=)single nucleotide variantPathogenicrs80356746GRCh37Chr 9, 104125109: 104125109
6BAATNM_001701.3(BAAT): c.967A> G (p.Ile323Val)single nucleotide variantPathogenicrs80356747GRCh37Chr 9, 104125000: 104125000

Expression for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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

Pathways for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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51PathCards, 31KEGG, 56Reactome, 54QIAGEN, 61Thomson Reuters, 58SinoBiological, 39NCBI BioSystems Database
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Pathways related to Atypical Hemolytic-Uremic Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.6C3, CFI, CFB, CFH
2
Show member pathways
7.8CFH, CD46, C3, CFHR3, CFI, CFB
3
Show member pathways
Immune response Alternative complement pathway61
Immune response Lectin Induced complement pathway61
Immune response Classic complement pathway61
7.8CD46, C3, CFHR3, CFI, CFB, CFH
4
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
7.8C3, CFI, CFB, CFH, THBD, CD46

Compounds for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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46Novoseek, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 25HMDB, 52PharmGKB
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Compounds related to Atypical Hemolytic-Uremic Syndrome according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1cardiolipin46 1210.9CFH, THBD
2kininogen469.7CFI, THBD
3nacl469.6THBD, CFH, CFI
4cyclosporin a46 30 6211.4THBD, CFH, CD46
5agarose469.2THBD, CFB, C3
6neopterin469.2THBD, C3
7fibrinogen469.0C3, CFI, CFH, THBD
8polysaccharide469.0THBD, CFH, C3, CD46
9cholesterol46 30 25 1212.0C3, CFI, CFH, THBD
10dexamethasone46 52 30 1211.9CD46, C3, CFH, THBD
11fatty acid468.6DGKE, C3, THBD
12lipid468.3DGKE, C3, CFI, THBD
13serine468.0THBD, CFH, CFB, CFI, C3, CD46
14heparin46 30 25 1210.9C3, THBD, CFHR4, CFH, CFI, CFHR5
15glucose467.7THBD, CFH, CFB, CFI, C3, DGKE

GO Terms for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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17Gene Ontology
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Cellular components related to Atypical Hemolytic-Uremic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725628.3CFH, CFB, CFHR3, CFHR1, C3
2extracellular spaceGO:0056157.9THBD, CFH, CFI, CFHR3, CFHR1, C3
3extracellular regionGO:0055767.7CFHR4, CFH, CFB, CFI, CFHR5, C3

Biological processes related to Atypical Hemolytic-Uremic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1complement activation, classical pathwayGO:0069588.7CD46, C3, CFI
2complement activation, alternative pathwayGO:0069578.6CFH, CFB, CFHR5, C3
3complement activationGO:0069568.6CFH, CFB, CFHR1, C3
4regulation of complement activationGO:0304498.2CD46, C3, CFI, CFB, CFH
5innate immune responseGO:0450878.1CFB, CFI, C3, CD46, CFH

Molecular functions related to Atypical Hemolytic-Uremic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1complement bindingGO:0018489.5CD46, CFB

Products for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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  • Antibodies
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  • Antibodies

Sources for Atypical Hemolytic-Uremic Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet