AHUS
MCID: ATY010
MIFTS: 53

Atypical Hemolytic-Uremic Syndrome (AHUS) malady

Immune, Blood, Nephrological, Genetic categories

Summaries for Atypical Hemolytic-Uremic Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 protein s 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 skin, liver and kidney, 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:47 235400

GeneReviews summary for husa

Aliases & Classifications for Atypical Hemolytic-Uremic Syndrome

Sources:
19GeneReviews, 21Genetics Home Reference, 43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS, 47OMIM, 49Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Immune, Blood, Nephrological


Aliases & Descriptions:

atypical hemolytic-uremic syndrome 19 21
atypical hemolytic uremic syndrome 43 20 22 61
ahus 19 43 21
atypical hus 19 43
hemolytic-uremic syndrome without diarrhea with anti-factor h antibodies 49
atypical hemolytic uremic syndrome with anti-factor h antibodies 49
hemolytic-uremic syndrome without diarrhea with h factor anomaly 49
atypical hemolytic uremic syndrome with h factor anomaly 49
atypical hus with anti-factor h antibodies 49
hemolytic-uremic syndrome with diarrhea 49
hereditary hemolytic-uremic syndrome 19
hemolytic uremic syndrome, atypical 47
d-hus with anti-factor h antibodies 49
non-shiga-like toxin-associated hus 21
atypical hus with h factor anomaly 49
hemolytic uremic syndrome, typical 61
ahus with anti-factor h antibodies 49
familial hemolytic-uremic syndrome 19
typical hemolytic uremic syndrome 49
shiga-like toxin-associated hus 49
d-hus with h factor anomaly 49
ahus with h factor anomaly 49
nonenteropathic hus 21
hus, atypical 43
non-stx-hus 21
typical hus 49
sxt-hus 49
d+hus 49


External Ids:

OMIM47 235400
ICD10 via Orphanet26 D59.3, D58.8
ICD1025 D59.3

Related Diseases for Atypical Hemolytic-Uremic Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Atypical Hemolytic-Uremic Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic-uremic syndrome32.1CD46, ADAMTS13, THBD, CFHR1, CFH, CFB
2protein s deficiency30.8C4BPB, C4BPA
3hellp syndrome30.4ADAMTS13
4membranoproliferative glomerulonephritis30.3C3, CFH, CD46
5systemic lupus erythematosus30.3C4BPA, C4B, CD46, CFI, CFH, THBD
6n syndrome10.9
7kid syndrome10.8
8adult syndrome10.6
9protein c deficiency10.6
10micro syndrome10.6
11char syndrome10.6
12cfh-related atypical hemolytic-uremic syndrome10.6
13complement factor h deficiency10.6
14thrombotic thrombocytopenic purpura10.5
15protein r deficiency10.5
16complement factor d deficiency10.5
17acute leukemia10.4
18cd4 deficiency10.4
19cd46-related atypical hemolytic-uremic syndrome10.4
20cfb-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
29mass syndrome10.3
30anuria10.3
31proliferative glomerulonephritis10.3
32homocystinuria10.3
33hepatitis a10.3
34thrombophilia10.3
35vascular disease10.3
36l1 syndrome10.3
37hemolytic uremic syndrome, atypical, childhood10.3
38young syndrome10.3
39bod syndrome10.3
40cblc10.3
41hemolytic uremic syndrome, atypical 310.3
42hemolytic uremic syndrome, atypical 410.3
43nephrotic syndrome, type 710.3
44hemolytic uremic syndrome, atypical 510.3
45hemolytic uremic syndrome, atypical 610.3
46rheumatic disease10.3
47null syndrome10.3
48diffuse alveolar hemorrhage10.3
49pediatric systemic lupus erythematosus10.3
50autism spectrum disorder10.2

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

235400

Clinical synopsis from OMIM:

235400

Drugs & Therapeutics for Atypical Hemolytic-Uremic Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Atypical Hemolytic-Uremic Syndrome:

33
Skin, Liver, Kidney, T cells, B lymphoblasts, B cells, Endothelial

Animal Models for Atypical Hemolytic-Uremic Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Atypical Hemolytic-Uremic Syndrome:

37
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

Sources:
51PubMed
See all sources

Articles related to Atypical Hemolytic-Uremic Syndrome:

(show top 50)    (show all 217)
idTitleAuthorsYear
1
Functional evaluation of factor H genetic and acquired abnormalities: application for atypical hemolytic uremic syndrome (aHUS). (24218264)
2014
2
Peripheral gangrene in children with atypical hemolytic uremic syndrome. (23230076)
2013
3
Eculizumab in atypical hemolytic-uremic syndrome. (24088109)
2013
4
Eculizumab for atypical hemolytic uremic syndrome in pregnancy. (23884270)
2013
5
Eculizumab in atypical hemolytic-uremic syndrome. (24088105)
2013
6
Atypical hemolytic uremic syndrome: from the rediscovery of complement to targeted therapy. (23756030)
2013
7
Neurologic involvement in atypical hemolytic uremic syndrome and successful treatment with eculizumab. (23389237)
2013
8
Recognition of malondialdehyde modified proteins by C-terminus of complement factor H is mediated via the polyanion binding site and impaired by mutations found in atypical hemolytic uremic syndrome. (24344133)
2013
9
Eculizumab in atypical hemolytic-uremic syndrome. (24088107)
2013
10
Overcoming technical challenges when treating atypical hemolytic uremic syndrome with therapeutic plasma exchange. (24277990)
2013
11
Factor I autoantibodies in patients with atypical hemolytic uremic syndrome: disease-associated or an epiphenomenon? (22223611)
2012
12
Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome. (22170528)
2012
13
Eculizumab in the treatment of atypical hemolytic uremic syndrome in infants. (22196848)
2012
14
Recent advances in the management of atypical hemolytic uremic syndrome. (23073053)
2012
15
A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome. (22250080)
2012
16
A time for reappraisal of "atypical" hemolytic uremic syndrome: should all patients be treated the same? (22673930)
2012
17
Immunogenicity of meningococcus C vaccination in a patient with atypical hemolytic uremic syndrome (aHUS) on eculizumab therapy. (21967634)
2012
18
Preservation of renal function in atypical hemolytic uremic syndrome by eculizumab: a case report. (23027168)
2012
19
Idiopathic Atypical Hemolytic Uremic Syndrome (aHUS) with Trilineage Myelodysplasia. (23450222)
2012
20
Atypical hemolytic uremic syndrome associated with Bordetella pertussis infection. (23069800)
2012
21
The complement system in pediatric systemic lupus erythematosus, atypical hemolytic uremic syndrome, and complocentric membranoglomerulopathies. (22810363)
2012
22
Successful therapeutic plasma exchange in a 3.2-kg body weight neonate with atypical hemolytic uremic syndrome. (21322001)
2011
23
Atypical hemolytic uremic syndrome in the Tunisian population. (20499172)
2011
24
A case of atypical hemolytic uremic syndrome due to anti-factor H antibody in a patient presenting with a factor XII deficiency identified two novel mutations. (21271273)
2011
25
Pre-emptive eculizumab and plasmapheresis for renal transplant in atypical hemolytic uremic syndrome. (21617085)
2011
26
Targeting complement C5 in atypical hemolytic uremic syndrome. (21127140)
2011
27
Long-term renal function under plasma exchange in atypical hemolytic uremic syndrome. (21647646)
2011
28
Complement activation during liver transplantation-special emphasis on patients with atypical hemolytic uremic syndrome. (21812916)
2011
29
Eculizumab in atypical hemolytic uremic syndrome: long-term clinical course and histological findings. (21877169)
2011
30
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
31
Successful isolated liver transplantation in a child with atypical hemolytic uremic syndrome and a mutation in complement factor H. (20738267)
2010
32
Pulse cyclophosphamide therapy and clinical remission in atypical hemolytic uremic syndrome with anti-complement factor H autoantibodies. (20202729)
2010
33
The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome. (19454698)
2009
34
Atypical hemolytic uremic syndrome responsive to steroids and intravenous immune globulin. (19301397)
2009
35
Complement inhibitor eculizumab in atypical hemolytic uremic syndrome. (19556379)
2009
36
Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient. (18805611)
2009
37
Efficacy of plasma therapy in atypical hemolytic uremic syndrome with complement factor H mutations. (18425537)
2008
38
The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome. (18235085)
2008
39
Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. (18006700)
2008
40
Simultaneous occurrence of atypical hemolytic uremic syndrome and acute lymphoblastic leukemia: a case report and literature review. (18188608)
2008
41
Atypical hemolytic uremic syndrome and the CFH gene]. (19134264)
2008
42
Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome. (17914026)
2008
43
Plasma infusion therapy in atypical hemolytic uremic syndrome long term outcome. (16528114)
2006
44
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. (16762990)
2006
45
Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome. (15917334)
2005
46
Atypical hemolytic uremic syndrome associated with group A beta hemolytic streptococcus. (15206022)
2004
47
Atypical hemolytic uremic syndrome. (11867846)
2002
48
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (10762557)
2000
49
Typical and atypical hemolytic uremic syndrome. (8887262)
1996
50
Atypical hemolytic-uremic syndrome: a comparison with postdiarrheal disease. (8618184)
1996

Genetic Variations for Atypical Hemolytic-Uremic Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Atypical Hemolytic-Uremic Syndrome:

63 (show all 31)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 56SinoBiological, 30KEGG, 12EMD Millipore
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Compounds for genes affiliated with Atypical Hemolytic-Uremic Syndrome

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB
See all sources

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

(show all 14)
idCompoundScoreTop Affiliating Genes
1cardiolipin45 1111.5CFH
2Intravenous Immunoglobulin1110.1C3, C4B
3n-methyl-n-nitrosourea4510.0MSH2, MLH1
46 thioguanine459.9MSH2, MLH1
5nacl459.8CFI, CFH, THBD, ADAMTS13
6polysaccharide459.8CD46, CFH, THBD, C3
7mononucleotide459.6MSH2, MLH1
8agarose459.6C4B, MLH1, CFB, THBD, C3
9cholesterol45 29 11 2412.4C3, THBD, CFH, CFI, C4BPA
10fibrinogen459.4C4BPA, CFI, CFH, THBD, C3, ADAMTS13
11serine459.3C4BPB, CD46, MSH2, C3, ADAMTS13
12steroid459.1C4B, MLH1, THBD, C3, ADAMTS13
13alanine459.1C4BPB, MLH1, CD46, CFH, THBD, MSH2
14heparin45 29 11 2410.9ADAMTS13, C4BPA, C4BPB, C4B, CFHR4, CFI

GO Terms for genes affiliated with Atypical Hemolytic-Uremic Syndrome

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet