AHUS
MCID: ATY010
MIFTS: 67

Atypical Hemolytic-Uremic Syndrome (AHUS) malady

Immune diseases, Blood diseases, Nephrological diseases, Genetic diseases categories

Summaries for Atypical Hemolytic-Uremic Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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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: Atypical Hemolytic-Uremic Syndrome, also known as atypical hemolytic uremic syndrome, is related to hemolytic-uremic syndrome and complement deficiency. An important gene associated with Atypical Hemolytic-Uremic Syndrome is CFHR1 (complement factor H-related 1), and among its related pathways are Activation of C3 and C5 and Classical Complement Pathway. The compounds cardiolipin and Intravenous Immunoglobulin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and skin, and related mouse phenotypes are renal/urinary system and homeostasis/metabolism.

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.

Description from OMIM:46 235400,609814

GeneReviews summary for husa

Aliases & Classifications for Atypical Hemolytic-Uremic Syndrome

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:



Aliases & Descriptions:

atypical hemolytic-uremic syndrome 19 21
atypical hemolytic uremic syndrome 42 20 22 60
ahus 19 42 21
atypical hus 19 42
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 with diarrhea 48
hereditary hemolytic-uremic syndrome 19
hemolytic uremic syndrome, atypical 46
d-hus with anti-factor h antibodies 48
non-shiga-like toxin-associated hus 21
atypical hus with h factor anomaly 48
hemolytic uremic syndrome, typical 60
ahus with anti-factor h antibodies 48
familial hemolytic-uremic syndrome 19
typical hemolytic uremic syndrome 48
shiga-like toxin-associated hus 48
d-hus with h factor anomaly 48
ahus with h factor anomaly 48
nonenteropathic hus 21
hus, atypical 42
non-stx-hus 21
typical hus 48
sxt-hus 48
d+hus 48


External Ids:

SNOMED-CT via Orphanet57 373421000
ICD10 via Orphanet26 D59.3, D58.8
ICD1025 D59.3

Related Diseases for Atypical Hemolytic-Uremic Syndrome

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17GeneCards, 18GeneDecks
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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 86)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic-uremic syndrome32.1CD46, ADAMTS13, THBD, CFHR1, CFH, CFB
2complement deficiency30.8C3
3purpura30.7ADAMTS13
4glomerulonephritis30.7C3, CFH, CFI, CD46
5hepatitis b30.3CFB
6hepatitis30.3CFB
7lupus erythematosus30.3THBD, C3
8hellp syndrome30.3ADAMTS13
9membranoproliferative glomerulonephritis30.3C3, CFH, CD46
10age related macular degeneration30.3CFHR1, CFH, CFB, CFHR3, C3
11systemic lupus erythematosus30.3C4BPA, C4B, CD46, CFI, CFH, THBD
12adult syndrome10.6
13thrombotic thrombocytopenic purpura10.5
14influenza10.5
15acute leukemia10.4
16hypertension10.4
17leukemia10.4
18cd46-related atypical hemolytic-uremic syndrome10.4
19cfb-related atypical hemolytic-uremic syndrome10.4
20cfh-related atypical hemolytic-uremic syndrome10.4
21cfi-related atypical hemolytic-uremic syndrome10.4
22thbd-related atypical hemolytic-uremic syndrome10.4
23cfhr3 and cfhr1-related atypical hemolytic-uremic syndrome10.4
24c3-related atypical hemolytic-uremic syndrome10.4
25cfhr1 and cfhr4-related atypical hemolytic-uremic syndrome10.4
26dgke-related atypical hemolytic-uremic syndrome10.4
27hemolytic uremic syndrome, atypical 110.4
28hemolytic uremic syndrome, atypical 210.4
29peritonitis10.3
30membranous glomerulonephritis10.2
31anuria10.2
32proliferative glomerulonephritis10.2
33factor xii deficiency10.2
34homocystinuria10.2
35lymphoblastic leukemia10.2
36malignant hypertension10.2
37pertussis10.2
38renal hypertension10.2
39thrombophilia10.2
40vascular disease10.2
41hemolytic uremic syndrome, atypical, childhood10.2
42complement factor h deficiency10.2
43hemolytic uremic syndrome, atypical 310.2
44hemolytic uremic syndrome, atypical 410.2
45nephrotic syndrome, type 710.2
46hemolytic uremic syndrome, atypical 510.2
47hemolytic uremic syndrome, atypical 610.2
48syndromic diarrhea10.0
49functional diarrhea10.0
50diarrhea10.0

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



Diseases related to atypical hemolytic-uremic syndrome

Clinical Features for Atypical Hemolytic-Uremic Syndrome

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46OMIM
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Clinical features from OMIM:

235400,609814

Clinical synopsis from OMIM:

235400

Drugs & Therapeutics for Atypical Hemolytic-Uremic Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Atypical Hemolytic-Uremic Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.2CFI, CFB, CFH, THBD, C3, C4B
2MP:00053767.8ADAMTS13, FHL1, C4B, MLH1, CFI, CFB

Publications for Atypical Hemolytic-Uremic Syndrome

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50PubMed
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Articles related to Atypical Hemolytic-Uremic Syndrome:

(show top 50)    (show all 215)
idTitleAuthorsYear
1
Functional evaluation of factor H genetic and acquired abnormalities: application for atypical hemolytic uremic syndrome (aHUS). (24218264)
2014
2
Early infantile onset of atypical hemolytic-uremic syndrome is caused by recessive mutations in DGKE. (23875923)
2013
3
Neonatal onset atypical hemolytic uremic syndrome successfully treated with eculizumab. (22956028)
2013
4
Managing and preventing atypical hemolytic uremic syndrome recurrence after kidney transplantation. (24076560)
2013
5
Complement activation by heme as a secondary hit for atypical hemolytic uremic syndrome. (23692858)
2013
6
Macrovascular involvement in a child with atypical hemolytic uremic syndrome. (24352218)
2013
7
Atypical hemolytic uremic syndrome: from the rediscovery of complement to targeted therapy. (23756030)
2013
8
Hepatitis B vaccine-associated atypical hemolytic uremic syndrome. (24385836)
2013
9
Assesment, treatment and prevention of atypical hemolytic uremic syndrome. (23412906)
2013
10
Anti-C5 as prophylactic therapy in atypical hemolytic uremic syndrome in living-related kidney transplantation. (23958887)
2013
11
Eculizumab in atypical hemolytic-uremic syndrome. (24088107)
2013
12
Atypical hemolytic uremic syndrome with membranoproliferative glomerulonephritis. (24036644)
2013
13
Renal transplantation under prophylactic eculizumab in atypical hemolytic uremic syndrome with CFH/CFHR1 hybrid protein. (22494769)
2012
14
Atypical hemolytic uremic syndrome: what is it, how is it diagnosed, and how is it treated? (23233643)
2012
15
Posttransplant recurrence of atypical hemolytic uremic syndrome. (22760880)
2012
16
Preservation of renal function in atypical hemolytic uremic syndrome by eculizumab: a case report. (23027168)
2012
17
Atypical hemolytic uremic syndrome associated with Bordetella pertussis infection. (23069800)
2012
18
Efficacy of eculizumab in a patient with factor-H-associated atypical hemolytic uremic syndrome. (21161283)
2011
19
Eculizumab safely reverses neurologic impairment and eliminates need for dialysis in severe atypical hemolytic uremic syndrome. (22287852)
2011
20
The development of atypical hemolytic uremic syndrome depends on complement C5. (21148255)
2011
21
Pre-emptive eculizumab and plasmapheresis for renal transplant in atypical hemolytic uremic syndrome. (21617085)
2011
22
Prognostic value of renal pathological findings in children with atypical hemolytic uremic syndrome. (22057069)
2011
23
Targeting complement C5 in atypical hemolytic uremic syndrome. (21127140)
2011
24
Atypical hemolytic uremic syndrome associated with H1N1 influenza A virus infection. (20803299)
2011
25
Optimizing treatment strategies in paediatric atypical hemolytic uremic syndrome. (21647645)
2011
26
Eculizumab in atypical hemolytic uremic syndrome: long-term clinical course and histological findings. (21877169)
2011
27
Atypical hemolytic uremic syndrome: update on the complement system and what is new. (20090363)
2010
28
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
29
Pulse cyclophosphamide therapy and clinical remission in atypical hemolytic uremic syndrome with anti-complement factor H autoantibodies. (20202729)
2010
30
Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. (20059470)
2010
31
More on eculizumab for congenital atypical hemolytic-uremic syndrome. (19439754)
2009
32
Complement inhibitor eculizumab in atypical hemolytic uremic syndrome. (19556379)
2009
33
Liver-kidney transplantation to cure atypical hemolytic uremic syndrome. (19092117)
2009
34
Eculizumab for congenital atypical hemolytic-uremic syndrome. (19179329)
2009
35
Mutations in proteins of the alternative pathway of complement and the pathogenesis of atypical hemolytic uremic syndrome. (18423815)
2008
36
Complement and the atypical hemolytic uremic syndrome in children. (18594873)
2008
37
The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome. (18235085)
2008
38
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. (18006700)
2008
39
Atypical hemolytic uremic syndrome and the CFH gene]. (19134264)
2008
40
Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome. (16882452)
2007
41
Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate. (17295030)
2007
42
Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. (17599974)
2007
43
Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome. (16528247)
2006
44
Plasma infusion therapy in atypical hemolytic uremic syndrome long term outcome. (16528114)
2006
45
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. (16762990)
2006
46
A case of atypical hemolytic uremic syndrome with a transient decrease in complement factor H. (16362720)
2006
47
Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions. (16338962)
2006
48
Atypical hemolytic uremic syndrome caused by infection with a non-Shiga toxin-producing strain of Escherichia Coli. (11893355)
2002
49
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (10577907)
1999
50
Atypical Hemolytic-Uremic Syndrome (20301541)
1993

Genetic Variations for Atypical Hemolytic-Uremic Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Atypical Hemolytic-Uremic Syndrome:

62 (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

Expression for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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1BioGPS, 15Gene 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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53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 55SinoBiological, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Atypical Hemolytic-Uremic Syndrome according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1cardiolipin44 1111.5CFH
2Intravenous Immunoglobulin1110.1C3, C4B
3n-methyl-n-nitrosourea4410.0MSH2, MLH1
46 thioguanine449.9MSH2, MLH1
5nacl449.8CFI, CFH, THBD, ADAMTS13
6polysaccharide449.8CD46, CFH, THBD, C3
7mononucleotide449.6MSH2, MLH1
8agarose449.6C4B, MLH1, CFB, THBD, C3
9cholesterol44 28 11 2412.4C3, THBD, CFH, CFI, C4BPA
10fibrinogen449.4C4BPA, CFI, CFH, THBD, C3, ADAMTS13
11serine449.3C4BPB, CD46, MSH2, C3, ADAMTS13
12steroid449.1C4B, MLH1, THBD, C3, ADAMTS13
13alanine449.1C4BPB, MLH1, CD46, CFH, THBD, MSH2
14heparin44 28 11 2410.9ADAMTS13, C4BPA, C4BPB, C4B, CFHR4, CFI

GO Terms for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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16Gene Ontology
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Cellular components related to Atypical Hemolytic-Uremic Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.0CFHR3, CFI, CFH, CFHR1, C3, ADAMTS13
2extracellular regionGO:0055767.7C3, C4BPA, C4BPB, C4B, CFHR4, CFI

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1isotype switchingGO:0451909.9MSH2, MLH1
2complement activation, alternative pathwayGO:0069579.7CFB, CFH, CFHR5, C3
3somatic hypermutation of immunoglobulin genesGO:0164469.6MSH2, MLH1
4complement activationGO:0069569.5C4B, CFB, CFH, CFHR1, C3
5complement activation, classical pathwayGO:0069589.1C4BPA, C4BPB, C4B, CD46, CFI, C3
6regulation of complement activationGO:0304498.7C3, C4BPA, C4BPB, C4B, CD46, CFI
7innate immune responseGO:0450878.5C4BPA, C4BPB, C4B, CD46, CFI, CFB

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

idNameGO IDScoreTop Affiliating Genes
1guanine/thymine mispair bindingGO:0321379.9MSH2, MLH1
2complement bindingGO:0018489.8CFB, CD46

Products for genes affiliated with Atypical Hemolytic-Uremic Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet