AHUS
MCID: ATY010
MIFTS: 62

Atypical Hemolytic-Uremic Syndrome (AHUS) malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Nephrological diseases, Ear diseases, Metabolic diseases, Neuronal diseases categories
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Summaries for Atypical Hemolytic-Uremic Syndrome

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NIH Rare Diseases:42 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.  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 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: 9/27/2010

MalaCards based summary: Atypical Hemolytic-Uremic Syndrome, also known as atypical hemolytic uremic syndrome, is related to hemolytic-uremic syndrome and complement factor h deficiency, and has symptoms including 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 Complement Pathway. 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:21 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.

Descriptions from OMIM:46 235400, 609814, 612922, 612923, 612924 612925, 612926, 615008 more

GeneReviews summary for husa

Aliases & Classifications for Atypical Hemolytic-Uremic Syndrome

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Sources:
19GeneReviews, 21Genetics Home Reference, 48Orphanet, 42NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
See all sources

Atypical Hemolytic-Uremic Syndrome, Aliases & Descriptions:

Name: Atypical Hemolytic-Uremic Syndrome 19 21 48
Atypical Hemolytic Uremic Syndrome 42 20 22 62
Ahus 19 42 21 48
Atypical Hus 19 42 48
Non-Shiga-Like Toxin-Associated Hus 21 62
Nonenteropathic Hus 21 62
Non-Stx-Hus 21 62
Hemolytic-Uremic Syndrome Without Diarrhea with Anti-Factor H Antibodies 48
Atypical Hemolytic-Uremic Syndrome with Anti-Factor H Antibodies 48
Hemolytic-Uremic Syndrome Without Diarrhea with H Factor Anomaly 48
Atypical Hemolytic-Uremic Syndrome with H Factor Anomaly 48
Atypical Hus with Anti-Factor H Antibodies 48
Hemolytic-Uremic Syndrome Without Diarrhea 48
Hemolytic-Uremic Syndrome with Diarrhea 48
Hereditary Hemolytic-Uremic Syndrome 19
 
Hemolytic Uremic Syndrome, Atypical 46
D-Hus with Anti-Factor H Antibodies 48
Ahus with Anti-Factor H Antibodies 48
Familial Hemolytic-Uremic Syndrome 19
Atypical Hus with H Factor Anomaly 48
Hemolytic Uremic Syndrome, Typical 62
Typical Hemolytic-Uremic Syndrome 48
Shiga-Like Toxin-Associated Hus 48
D-Hus with H Factor Anomaly 48
Ahus with H Factor Anomaly 48
Hus, Atypical 42
Typical Hus 48
Sxt-Hus 48
D-Hus 48
D+hus 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
ahus:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age


External Ids:

ICD10 via Orphanet26 D58.8, D59.3
UMLS via Orphanet63 C2931788
MESH via Orphanet35 C538266
ICD1025 D59.3

Related Diseases for Atypical Hemolytic-Uremic Syndrome

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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 71)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic-uremic syndrome31.7THBD, CFH, CFB, CFI, CD46, CFHR1
2complement factor h deficiency31.1CFH
3glomerulonephritis30.9CFH, CFI, C3, CD46
4membranoproliferative glomerulonephritis30.7CD46, C3, CFH
5thrombocytopenia30.7CD46, CFH, THBD
6age related macular degeneration30.4CFH, CFB, CFHR3, CFHR1, C3
7systemic lupus erythematosus30.2CD46, C3, CFI, CFH, THBD
8hypertension10.5
9thrombotic thrombocytopenic purpura10.5
10influenza10.5
11purpura10.5
12retinal drusen10.5CFH
13leukemia10.4
14cd46-related atypical hemolytic-uremic syndrome10.4
15cfb-related atypical hemolytic-uremic syndrome10.4
16cfh-related atypical hemolytic-uremic syndrome10.4
17cfi-related atypical hemolytic-uremic syndrome10.4
18thbd-related atypical hemolytic-uremic syndrome10.4
19cfhr3 and cfhr1-related atypical hemolytic-uremic syndrome10.4
20c3-related atypical hemolytic-uremic syndrome10.4
21cfhr1 and cfhr4-related atypical hemolytic-uremic syndrome10.4
22dgke-related atypical hemolytic-uremic syndrome10.4
23hemolytic uremic syndrome, atypical 110.4
24nephropathy due to cfhr5 deficiency10.4CFHR5
25macular degeneration, age-related, reduced risk of10.4CFHR3, CFHR1
26lyme disease10.3CFHR1, CFH
27intestinal perforation10.3
28acute leukemia10.3
29acute lymphoblastic leukemia10.3
30hepatitis10.3
31hepatitis b10.3
32anuria10.3
33factor xii deficiency10.3
34hellp syndrome10.3
35homocystinuria10.3
36proliferative glomerulonephritis10.3
37lupus erythematosus10.3
38lymphoblastic leukemia10.3
39malignant hypertension10.3
40peritonitis10.3
41pertussis10.3
42thrombophilia10.3
43hemolytic uremic syndrome, atypical, childhood10.3
44hemolytic uremic syndrome, atypical 210.3
45hemolytic uremic syndrome, atypical 310.3
46hemolytic uremic syndrome, atypical 410.3
47nephrotic syndrome, type 710.3
48hemolytic uremic syndrome, atypical 510.3
49hemolytic uremic syndrome, atypical 610.3
50rheumatic disease10.3

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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Symptoms by clinical synopsis from OMIM:

235400

Clinical features from OMIM:

235400,609814,612922,612923,612924,612925,612926,615008

HPO human phenotypes related to Atypical Hemolytic-Uremic Syndrome:

(show all 25)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 hypertension HP:0000822
4 purpura HP:0000979
5 seizures HP:0001250
6 coma HP:0001259
7 hemiparesis HP:0001269
8 thrombocytopenia HP:0001873
9 acute kidney injury HP:0001919
10 reticulocytosis HP:0001923
11 microangiopathic hemolytic anemia HP:0001937
12 fever HP:0001945
13 schistocytosis HP:0001981
14 diarrhea HP:0002014
15 dysphasia HP:0002357
16 hyperlipidemia HP:0003077
17 increased blood urea nitrogen (bun) HP:0003138
18 elevated serum creatinine HP:0003259
19 decreased serum complement factor i HP:0005356
20 decreased serum complement factor h HP:0005369
21 decreased serum complement factor b HP:0005416
22 decreased serum complement c3 HP:0005421
23 hemolytic-uremic syndrome HP:0005575
24 anuria HP:0100519
25 cognitive impairment HP:0100543

Drugs & Therapeutics for Atypical Hemolytic-Uremic Syndrome

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Drug clinical trials:

Search ClinicalTrials for Atypical Hemolytic-Uremic Syndrome

Search NIH Clinical Center for Atypical Hemolytic-Uremic Syndrome

Genetic Tests for Atypical Hemolytic-Uremic Syndrome

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Genetic tests related to Atypical Hemolytic-Uremic Syndrome:

id Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome20 22 THBD

Anatomical Context for Atypical Hemolytic-Uremic Syndrome

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

32
Kidney, Liver, Skin, Endothelial

Animal Models for Atypical Hemolytic-Uremic Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Atypical Hemolytic-Uremic Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5C3, CFI, CFB, CFH, THBD

Publications for Atypical Hemolytic-Uremic Syndrome

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Articles related to Atypical Hemolytic-Uremic Syndrome:

(show top 50)    (show all 234)
idTitleAuthorsYear
1
Atypical hemolytic uremic syndrome: the role of complement pathway gene mutation analysis. (25003358)
2014
2
Eculizumab in the treatment of atypical hemolytic uremic syndrome in an infant leads to cessation of peritoneal dialysis and improvement of severe hypertension. (25318620)
2014
3
Atypical Hemolytic Uremic Syndrome: Differential Diagnosis from TTP/HUS and Management. (25319590)
2014
4
Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: concentration of C3 p.I1157T mutation. (25135378)
2014
5
Untying the knot of thrombotic thrombocytopenic purpura and atypical hemolytic uremic syndrome. (23410558)
2013
6
Eculizumab in atypical hemolytic-uremic syndrome. (24088108)
2013
7
Early infantile onset of atypical hemolytic-uremic syndrome is caused by recessive mutations in DGKE. (23875923)
2013
8
Peripheral gangrene in children with atypical hemolytic uremic syndrome. (23230076)
2013
9
Eculizumab in atypical hemolytic-uremic syndrome. (24088109)
2013
10
Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome. (23738544)
2013
11
Atypical hemolytic uremic syndrome. (24161037)
2013
12
Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome. (23243267)
2013
13
Eculizumab for atypical hemolytic uremic syndrome in pregnancy. (23884270)
2013
14
Profound neurological injury in a patient with atypical hemolytic uremic syndrome. (23139014)
2013
15
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
16
Factor I autoantibodies in patients with atypical hemolytic uremic syndrome: disease-associated or an epiphenomenon? (22223611)
2012
17
Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome. (22170528)
2012
18
Complement factor H variants I890 and L1007 while commonly associated with atypical hemolytic uremic syndrome are polymorphisms with no functional significance. (21881555)
2012
19
Atypical hemolytic uremic syndrome-associated variants and autoantibodies impair binding of factor h and factor h-related protein 1 to pentraxin 3. (22786770)
2012
20
Renal transplantation under prophylactic eculizumab in atypical hemolytic uremic syndrome with CFH/CFHR1 hybrid protein. (22494769)
2012
21
Eculizumab in the treatment of atypical hemolytic uremic syndrome in infants. (22196848)
2012
22
Atypical hemolytic uremic syndrome: what is it, how is it diagnosed, and how is it treated? (23233643)
2012
23
Posttransplant recurrence of atypical hemolytic uremic syndrome. (22760880)
2012
24
Recent advances in the management of atypical hemolytic uremic syndrome. (23073053)
2012
25
Eculizumab for atypical hemolytic uremic syndrome recurrence in renal transplantation. (22958221)
2012
26
Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria. (22447314)
2012
27
Efficacy of eculizumab in a patient with factor-H-associated atypical hemolytic uremic syndrome. (21161283)
2011
28
Successful therapeutic plasma exchange in a 3.2-kg body weight neonate with atypical hemolytic uremic syndrome. (21322001)
2011
29
Atypical hemolytic uremic syndrome in the Tunisian population. (20499172)
2011
30
Eculizumab safely reverses neurologic impairment and eliminates need for dialysis in severe atypical hemolytic uremic syndrome. (22287852)
2011
31
Atypical hemolytic-uremic syndrome (HUS) with recovery after a long-lasting anuria: a case report. (21607045)
2011
32
Diagnosis and treatment of atypical hemolytic uremic syndrome. (22252664)
2011
33
Atypical hemolytic uremic syndrome and mutation analysis of factor H gene in two Tunisian families. (21694933)
2010
34
Atypical hemolytic uremic syndrome associated with mutations in complement regulator genes. (20865641)
2010
35
Triggering of atypical hemolytic uremic syndrome by influenza A (H1N1). (20540647)
2010
36
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
37
Impact of compound heterozygous complement factor H mutations on development of atypical hemolytic uremic syndrome-A pedigree revisited. (20304497)
2010
38
The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome. (19454698)
2009
39
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
40
Atypical hemolytic uremic syndrome responsive to steroids and intravenous immune globulin. (19301397)
2009
41
Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome. (19584399)
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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UniProtKB/Swiss-Prot genetic disease variations for Atypical Hemolytic-Uremic Syndrome:

64 (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:

6 (show all 32)
id Gene Name Type Significance SNP ID Assembly Location
1CFINM_000204.3(CFI): c.1420C> T (p.Arg474Ter)single nucleotide variantrisk factorrs121964913GRCh37Chr 4, 110667387: 110667387
2CFINM_000204.3(CFI): c.1571A> T (p.Asp524Val)single nucleotide variantrisk factorrs121964914GRCh37Chr 4, 110662230: 110662230
3CFINM_000204.3(CFI): c.1637G> A (p.Trp546Ter)single nucleotide variantrisk factorrs121964915GRCh37Chr 4, 110662164: 110662164
4CFINM_000204.3(CFI): c.949C> T (p.Arg317Trp)single nucleotide variantrisk factorrs121964917GRCh37Chr 4, 110670750: 110670750
5CFINM_000204.3(CFI): c.1555G> A (p.Asp519Asn)single nucleotide variantrisk factorrs121964918GRCh37Chr 4, 110662246: 110662246
6CFBNM_001710.5(CFB): c.858C> G (p.Phe286Leu)single nucleotide variantrisk factorrs117905900GRCh37Chr 6, 31915819: 31915819
7CFBNM_001710.5(CFB): c.967A> G (p.Lys323Glu)single nucleotide variantrisk factorrs121909748GRCh37Chr 6, 31916220: 31916220
8CFHNM_000186.3(CFH): c.3643C> G (p.Arg1215Gly)single nucleotide variantrisk factorrs121913051GRCh37Chr 1, 196716390: 196716390
9CFHNM_000186.3(CFH): c.3572C> T (p.Ser1191Leu)single nucleotide variantPathogenicrs460897GRCh37Chr 1, 196716319: 196716319
10CFHCFH, 24-BP DELdeletionrisk factor
11CFHNM_000186.3(CFH): c.3566T> G (p.Leu1189Arg)single nucleotide variantrisk factorrs121913055GRCh37Chr 1, 196716313: 196716313
12CFHCFH, 4-BP DELdeletionrisk factor
13CFHNM_000186.3(CFH): c.2697T> A (p.Tyr899Ter)single nucleotide variantrisk factorrs121913057GRCh37Chr 1, 196706705: 196706705
14CFHNM_000186.3(CFH): c.3628C> T (p.Arg1210Cys)single nucleotide variantPathogenicrs121913059GRCh37Chr 1, 196716375: 196716375
15CFHNM_000186.3(CFH): c.3514G> T (p.Glu1172Ter)single nucleotide variantrisk factorrs121913060GRCh37Chr 1, 196716261: 196716261
16CFHNM_000186.3(CFH): c.3592G> T (p.Glu1198Ter)single nucleotide variantrisk factorrs121913063GRCh37Chr 1, 196716339: 196716339
17CD46CD46, 2-BP DEL, 843ACdeletionrisk factor
18CD46CD46, 6-BP DELdeletionrisk factor
19CD46NM_002389.4(CD46): c.718T> C (p.Ser240Pro)single nucleotide variantrisk factorrs121909589GRCh37Chr 1, 207940402: 207940402
20CD46CD46, IVS1AS, G-C, -1single nucleotide variantrisk factor
21CD46NM_002389.4(CD46): c.175C> T (p.Arg59Ter)single nucleotide variantrisk factorrs121909590GRCh37Chr 1, 207930436: 207930436
22CD46NM_002389.4(CD46): c.104G> A (p.Cys35Tyr)single nucleotide variantrisk factorrs121909591GRCh37Chr 1, 207930365: 207930365
23C3NM_000064.2(C3): c.1775G> A (p.Arg592Gln)single nucleotide variantrisk factorrs121909583GRCh37Chr 19, 6709765: 6709765
24C3NM_000064.2(C3): c.3281C> T (p.Ala1094Val)single nucleotide variantrisk factorrs121909584GRCh37Chr 19, 6693044: 6693044
25C3NM_000064.2(C3): c.3343G> A (p.Asp1115Asn)single nucleotide variantrisk factorrs121909585GRCh37Chr 19, 6692982: 6692982
26C3NM_000064.2(C3): c.2562C> G (p.Tyr854Ter)single nucleotide variantrisk factorrs121909586GRCh37Chr 19, 6697684: 6697684
27NC_000001.11deletionPathogenic
28CFHNM_000186.3(CFH): c.3590T> C (p.Val1197Ala)single nucleotide variantPathogenicrs460184GRCh37Chr 1, 196716337: 196716337
29BAATNM_001701.3(BAAT): c.858C> G (p.Ser286=)single nucleotide variantPathogenicrs80356746GRCh37Chr 9, 104125109: 104125109
30BAATNM_001701.3(BAAT): c.967A> G (p.Ile323Val)single nucleotide variantPathogenicrs80356747GRCh37Chr 9, 104125000: 104125000
31CFINM_000204.3(CFI): c.782G> A (p.Gly261Asp)single nucleotide variantPathogenicrs112534524GRCh37Chr 4, 110681527: 110681527
32CFICFI, GLY119ARGsingle nucleotide variantrisk factor

Expression for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.9C3, CFI, CFB, CFH
2
Show member pathways
Immune response Alternative complement pathway60
Immune response Lectin Induced complement pathway60
Immune response Classic complement pathway60
8.2CD46, C3, CFHR3, CFI, CFB, CFH
3
Show member pathways
8.2CFH, CD46, C3, CFHR3, CFI, CFB
4
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
8.1C3, CFI, CFB, CFH, THBD, CD46

Compounds for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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

(show all 15)
idCompoundScoreTop Affiliating Genes
1cardiolipin44 1110.9THBD, CFH
2kininogen449.8CFI, THBD
3nacl449.7CFI, CFH, THBD
4agarose449.3C3, CFB, THBD
5fibrinogen449.2THBD, CFH, CFI, C3
6cholesterol44 28 24 1112.1THBD, CFH, CFI, C3
7polysaccharide449.1CD46, C3, CFH, THBD
8retinoic acid44 2410.1THBD, CFH, CFI, GJB1
9progesterone44 28 61 24 1113.0THBD, C3, GJB1, CD46
10dexamethasone44 50 28 1112.0CD46, C3, CFH, THBD
11estrogen448.9GJB1, C3, CFI, THBD
12cysteine448.7GJB1, C3, CFH, THBD
13serine448.1THBD, CFH, CFB, CFI, C3, GJB1
14glucose448.0THBD, CFH, CFB, CFI, C3, DGKE
15heparin44 28 24 1110.9C3, THBD, CFHR4, CFH, CFI, CFHR5

GO Terms for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725628.6C3, CFHR1, CFHR3, CFB, CFH
2extracellular spaceGO:0056158.2THBD, CFH, CFI, CFHR3, CFHR1, C3
3extracellular regionGO:0055767.8C3, CFHR5, CFI, CFB, CFH, CFHR4

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

idNameGO IDScoreTop Affiliating Genes
1fatty acid metabolic processGO:0066319.6BAAT, C3
2complement activation, classical pathwayGO:0069589.1CD46, C3, CFI
3complement activationGO:0069569.0CFH, CFB, CFHR1, C3
4complement activation, alternative pathwayGO:0069578.7CFH, CFB, CFHR5, C3
5regulation of complement activationGO:0304498.6CD46, C3, CFI, CFB, CFH
6innate immune responseGO:0450878.2CFH, CFB, CFI, C3, CD46

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

idNameGO IDScoreTop Affiliating Genes
1complement bindingGO:0018489.6CD46, CFB

Products for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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  • Antibodies
  • Proteins
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Sources for Atypical Hemolytic-Uremic Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet