MCID: HML033
MIFTS: 47

Hemolytic Uremic Syndrome, Atypical 1 malady

Genetic diseases, Rare diseases, Nephrological diseases, Blood diseases categories

Summaries for Hemolytic Uremic Syndrome, Atypical 1

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OMIM:45 Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic... (235400) more...

MalaCards based summary: Hemolytic Uremic Syndrome, Atypical 1, also known as atypical hemolytic-uremic syndrome, is related to complement factor h deficiency and thrombotic thrombocytopenic purpura, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and hypertension. An important gene associated with Hemolytic Uremic Syndrome, Atypical 1 is CFH (complement factor H), 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, 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.

NIH Rare Diseases:41 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

GeneReviews summary for husa

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 1

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Sources:
45OMIM, 10diseasecard, 22GTR, 19GeneReviews, 41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 20GeneTests, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
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Hemolytic Uremic Syndrome, Atypical 1, Aliases & Descriptions:

Name: Hemolytic Uremic Syndrome, Atypical 1 45
Atypical Hemolytic-Uremic Syndrome 19 41 21 47
Atypical Hemolytic Uremic Syndrome 41 20 22 60
Ahus 19 41 21 47
Atypical Hus 19 41 47
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1 10 22
Hemolytic-Uremic Syndrome Without Diarrhea 41 47
D-Hus 41 47
 
Hereditary Hemolytic-Uremic Syndrome 19
Hemolytic Uremic Syndrome, Atypical 45
Non-Shiga-Like Toxin-Associated Hus 21
Familial Hemolytic-Uremic Syndrome 19
Nonenteropathic Hus 21
Hus, Atypical 41
Non-Stx-Hus 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
atypical hemolytic-uremic syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age


External Ids:

OMIM45 235400
Orphanet47 2134
ICD10 via Orphanet26 D58.8
UMLS via Orphanet61 C2931788
MESH via Orphanet34 C538266

Related Diseases for Hemolytic Uremic Syndrome, Atypical 1

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Diseases in the Hemolytic Uremic Syndrome, Atypical 1 family:

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 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

Diseases related to Hemolytic Uremic Syndrome, Atypical 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1complement factor h deficiency31.1CFH
2thrombotic thrombocytopenic purpura31.1CFH, CD46
3thrombocytopenia30.4CD46, CFH, THBD
4hemolytic-uremic syndrome30.3CD46, CFHR1, CFHR3, CFH, THBD, CFB
5glomerulonephritis30.2CFH, CFI, CD46, C3
6membranoproliferative glomerulonephritis30.2C3, CD46, CFH
7lupus erythematosus30.0THBD, C3
8systemic lupus erythematosus29.5CFH, CD46, C3, THBD, CFI
9hemolytic uremic syndrome, atypical 210.6
10hemolytic uremic syndrome, atypical 310.6
11hemolytic uremic syndrome, atypical 410.6
12hemolytic uremic syndrome, atypical 510.6
13hemolytic uremic syndrome, atypical 610.6
14hemolytic uremic syndrome, atypical, childhood10.6
15influenza10.5
16purpura10.5
17cd46-related atypical hemolytic-uremic syndrome10.5
18cfb-related atypical hemolytic-uremic syndrome10.5
19cfh-related atypical hemolytic-uremic syndrome10.5
20cfi-related atypical hemolytic-uremic syndrome10.5
21thbd-related atypical hemolytic-uremic syndrome10.5
22cfhr3 and cfhr1-related atypical hemolytic-uremic syndrome10.5
23c3-related atypical hemolytic-uremic syndrome10.5
24cfhr1 and cfhr4-related atypical hemolytic-uremic syndrome10.5
25dgke-related atypical hemolytic-uremic syndrome10.5
26atypical hemolytic-uremic syndrome with thrombomodulin anomaly10.5
27atypical hemolytic-uremic syndrome with dgke deficiency10.5
28atypical hemolytic-uremic syndrome with b factor anomaly10.5
29atypical hemolytic-uremic syndrome with h factor anomaly10.5
30atypical hemolytic-uremic syndrome with c3 anomaly10.5
31atypical hemolytic-uremic syndrome with mcp/cd46 anomaly10.5
32atypical hemolytic-uremic syndrome with i factor anomaly10.5
33atypical hemolytic-uremic syndrome with anti-factor h antibodies10.5
34retinal drusen10.5CFH
35leukemia10.4
36factor xii deficiency10.3
37acute leukemia10.3
38hepatitis10.3
39hepatitis b10.3
40paroxysmal nocturnal hemoglobinuria10.3
41anuria10.3
42homocystinuria10.3
43proliferative glomerulonephritis10.3
44hellp syndrome10.3
45hemoglobinuria10.3
46lymphoblastic leukemia10.3
47malignant hypertension10.3
48peritonitis10.3
49pertussis10.3
50thrombophilia10.3

Graphical network of the top 20 diseases related to Hemolytic Uremic Syndrome, Atypical 1:



Diseases related to hemolytic uremic syndrome, atypical 1

Symptoms for Hemolytic Uremic Syndrome, Atypical 1

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Symptoms by clinical synopsis from OMIM:

235400

Clinical features from OMIM:

235400

HPO human phenotypes related to Hemolytic Uremic Syndrome, Atypical 1:

(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 Hemolytic Uremic Syndrome, Atypical 1

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Drug clinical trials:

Search ClinicalTrials for Hemolytic Uremic Syndrome, Atypical 1

Search NIH Clinical Center for Hemolytic Uremic Syndrome, Atypical 1

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 1

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Genetic tests related to Hemolytic Uremic Syndrome, Atypical 1:

id Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome20 22 THBD
2 Atypical Hemolytic-Uremic Syndrome 122

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 1

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

31
Kidney

Animal Models for Hemolytic Uremic Syndrome, Atypical 1 or affiliated genes

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MGI Mouse Phenotypes related to Hemolytic Uremic Syndrome, Atypical 1:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.8C3, CFI, CFB, CFH, THBD

Publications for Hemolytic Uremic Syndrome, Atypical 1

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Variations for Hemolytic Uremic Syndrome, Atypical 1

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

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

Clinvar genetic disease variations for Hemolytic Uremic Syndrome, Atypical 1:

6 (show all 32)
id Gene Variation 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 variantPathogenic, risk factorrs460897GRCh37Chr 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 variantPathogenic, risk factorrs121913059GRCh37Chr 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 Hemolytic Uremic Syndrome, Atypical 1

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Search GEO for disease gene expression data for Hemolytic Uremic Syndrome, Atypical 1.

Pathways for genes affiliated with Hemolytic Uremic Syndrome, Atypical 1

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Pathways related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.4C3, CFI, CFB, CFH
2
Show member pathways
7.4CFH, CD46, C3, CFHR3, CFI, CFB
3
Show member pathways
Immune response Alternative complement pathway58
Immune response Lectin Induced complement pathway58
Immune response Classic complement pathway58
7.4CD46, C3, CFHR3, CFI, CFB, CFH
4
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
7.2C3, CFI, CFB, CFH, THBD, CD46

Compounds for genes affiliated with Hemolytic Uremic Syndrome, Atypical 1

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Compounds related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

(show all 16)
idCompoundScoreTop Affiliating Genes
1cardiolipin43 1210.8CFH, THBD
2kininogen439.6CFI, THBD
3nacl439.4CFI, CFH, THBD
4neopterin439.1C3, THBD
5cyclosporin a43 28 5911.1THBD, CFH, CD46
6oleic acid43 28 24 1211.9BAAT, C3
7agarose438.8C3, CFB, THBD
8fibrinogen438.6C3, CFI, CFH, THBD
9creatinine438.6THBD, CFI, C3
10cholesterol43 28 24 1211.6THBD, CFH, CFI, C3
11progesterone43 28 59 24 1212.5CD46, C3, THBD
12polysaccharide438.5THBD, CFH, C3, CD46
13dexamethasone43 49 28 1211.4THBD, CFH, C3, CD46
14heparin43 28 24 1211.3C3, CFHR1, CFI, CFH, THBD
15glucose438.1THBD, CFH, CFB, CFI, C3
16serine437.5THBD, CFH, CFB, CFI, C3, CD46

GO Terms for genes affiliated with Hemolytic Uremic Syndrome, Atypical 1

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Cellular components related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.4C3, CFI, CFB, CFH
2blood microparticleGO:00725628.0C3, CFHR1, CFHR3, CFB, CFH
3extracellular spaceGO:00056157.3THBD, CFH, CFI, CFHR3, CFHR1, C3

Biological processes related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fatty acid metabolic processGO:00066319.2BAAT, C3
2complement activation, alternative pathwayGO:00069578.8CFH, CFB, C3
3complement activationGO:00069568.5CFH, CFB, CFHR1, C3
4complement activation, classical pathwayGO:00069588.3CD46, C3, CFI
5regulation of complement activationGO:00304497.8CD46, C3, CFI, CFB, CFH
6innate immune responseGO:00450877.6CFH, CFB, CFI, C3, CD46

Molecular functions related to Hemolytic Uremic Syndrome, Atypical 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1complement bindingGO:00018489.3CD46, CFB

Products for genes affiliated with Hemolytic Uremic Syndrome, Atypical 1

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Sources for Hemolytic Uremic Syndrome, Atypical 1

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3CDC
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
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46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
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61UMLS via Orphanet