MCID: HML033
MIFTS: 43

Hemolytic Uremic Syndrome, Atypical 1 malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Blood diseases, Immune diseases

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 1

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Sources:
50OMIM, 12diseasecard, 68UniProtKB/Swiss-Prot, 46NIH Rare Diseases, 66UMLS, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 25GTR, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hemolytic Uremic Syndrome, Atypical 1:

Name: Hemolytic Uremic Syndrome, Atypical 1 50
Ahus 46 23 24 52 68
Atypical Hemolytic-Uremic Syndrome 23 24 52 25
Atypical Hus 46 23 52
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1 50 12
Hemolytic-Uremic Syndrome Without Diarrhea 52 68
Hemolytic Uremic Syndrome Atypical 1 68 25
Atypical Hemolytic Uremic Syndrome 46 66
Hemolytic-Uremic Syndrome Without Diarrhea with Anti-Factor H Antibodies 52
Atypical Hemolytic-Uremic Syndrome with Anti-Factor H Antibodies 52
Atypical Hemolytic Uremic Syndrome with H Factor Anomaly 68
Atypical Hus with Anti-Factor H Antibodies 52
Hemolytic-Uremic Syndrome with Diarrhea 52
Hereditary Hemolytic-Uremic Syndrome 23
D-Hus with Anti-Factor H Antibodies 52
Hemolytic Uremic Syndrome, Atypical 50
 
Non-Shiga-Like Toxin-Associated Hus 24
Ahus with Anti-Factor H Antibodies 52
Familial Hemolytic-Uremic Syndrome 23
Typical Hemolytic-Uremic Syndrome 52
Shiga-Like Toxin-Associated Hus 52
Hemolytic-Uremic Syndrome 68
Nonenteropathic Hus 24
Hus, Atypical 46
Typical Hus 52
Non-Stx-Hus 24
Sxt-Hus 52
D Hus 68
D-Hus 52
D+hus 52
Ahus1 68

Characteristics:

Orphanet epidemiological data:

52
ahus:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (United States),1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age
hemolytic-uremic syndrome with diarrhea:
Inheritance: Not applicable; Prevalence: 1-9/100000 (United States); Age of onset: All ages

HPO:

62
hemolytic uremic syndrome, atypical 1:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 235400
UMLS via Orphanet67 C2931788
ICD10 via Orphanet29 D58.8, D59.3
MESH via Orphanet38 C538266
MeSH37 D006463

Summaries for Hemolytic Uremic Syndrome, Atypical 1

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OMIM:50 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 ahus, is related to hemolytic uremic syndrome, atypical 2 and hemolytic uremic syndrome, atypical 3, and has symptoms including hypertension, purpura and seizures. An important gene associated with Hemolytic Uremic Syndrome, Atypical 1 is CFH (Complement Factor H), and among its related pathways are Immune response Lectin induced complement pathway and Creation of C4 and C2 activators. Affiliated tissues include kidney and endothelial.

Genetics Home Reference:24 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:46 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

UniProtKB/Swiss-Prot:68 Hemolytic uremic syndrome atypical 1: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.

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 C3-Related Atypical Hemolytic-Uremic Syndrome
Cd46-Related Atypical Hemolytic-Uremic Syndrome Cfb-Related Atypical Hemolytic-Uremic Syndrome
Cfh-Related Atypical Hemolytic-Uremic Syndrome Cfi-Related Atypical Hemolytic-Uremic Syndrome
Dgke-Related Atypical Hemolytic-Uremic Syndrome Thbd-Related Atypical Hemolytic-Uremic Syndrome

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

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic uremic syndrome, atypical 212.5
2hemolytic uremic syndrome, atypical 312.5
3hemolytic uremic syndrome, atypical 412.5
4hemolytic uremic syndrome, atypical 512.5
5hemolytic uremic syndrome, atypical 612.5
6hemolytic uremic syndrome, atypical, childhood12.4
7genetic atypical hemolytic-uremic syndrome12.2
8thbd-related atypical hemolytic-uremic syndrome12.2
9c3-related atypical hemolytic-uremic syndrome12.2
10cd46-related atypical hemolytic-uremic syndrome12.2
11cfb-related atypical hemolytic-uremic syndrome12.2
12cfh-related atypical hemolytic-uremic syndrome12.2
13cfhr1 and cfhr4-related atypical hemolytic-uremic syndrome12.2
14cfhr3 and cfhr1-related atypical hemolytic-uremic syndrome12.2
15cfi-related atypical hemolytic-uremic syndrome12.2
16dgke-related atypical hemolytic-uremic syndrome12.2
17atypical hemolytic-uremic syndrome with h factor anomaly12.2
18nephrotic syndrome, type 711.8
19hemolytic-uremic syndrome10.5
20peritonitis10.1
21disorders of intracellular cobalamin metabolism10.0CFH, CFHR5
22purpura10.0
23complement factor h deficiency10.0CFH, CFHR1
24norse9.9CFH, CFHR5
25granuloma annulare9.9CFH, CFHR5
26lacrimal gland carcinoma9.8CFH, CFHR5
27hyperinsulinism9.7CFH, CFHR1, CFHR3
28parametrium malignant neoplasm9.6CFH, CFHR1
29catsper1-related nonsyndromic male infertility9.6CFHR1, CFHR3, CFHR5
30macular degeneration, age-related, 19.1CFH, CFHR1, CFHR3, CFHR5
31duane retraction syndrome8.4CFH, CFHR1, CFHR3, CFHR5, THBD
32hemolytic uremic syndrome, atypical 17.8BAAT, CFH, CFHR1, CFHR3, CFHR5, THBD

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

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 1

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Interventional clinical trials:

(show all 20)
idNameStatusNCT IDPhase
1Study Assessing an Algorithm-based Strategy of Eculizumab Discontinuation in Children and Adults With aHUSRecruitingNCT02574403Phase 4
2Eval. of Potential Predictors of Disease Progression in Patients With aHUS Including Genetics, Biomarkers and TreatmentEnrolling by invitationNCT02614898Phase 4
3An Open-label, Multi-center Clinical Trial of Eculizumab in Adult Patients With Atypical Hemolytic-uremic SyndromeCompletedNCT01194973Phase 2
4An Open-Label, Multi-Center Clinical Trial of Eculizumab in Pediatric Patients With Atypical Hemolytic-Uremic SyndromeCompletedNCT01193348Phase 2
5Open Label Controlled Trial of Eculizumab in Adult Patients With Plasma Therapy-sensitive Atypical Hemolytic Uremic Syndrome (aHUS)CompletedNCT00838513Phase 2
6Open Label Controlled Trial of Eculizumab in Adult Patients With Plasma Therapy-Resistant aHUSCompletedNCT00844545Phase 2
7Open Label Controlled Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Resistant aHUSCompletedNCT00844844Phase 2
8Open Label Controlled Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Sensitive aHUSCompletedNCT00844428Phase 2
9Complement Inhibition in aHUS Dialysis PatientsRecruitingNCT02464891Phase 2
10The Safety and Efficacy of Eculizumab in Japanese Patients With Atypical Hemolytic Uremic Syndrome (aHUS)RecruitingNCT01757431Phase 2
11Safety and Efficacy Study of OMS721 in Patients With Thrombotic MicroangiopathiesRecruitingNCT02222545Phase 2
12A Retrospective, Observational, Non-interventional Trial to Assess Eculizumab Treatment Effect in Patients With Atypical Hemolytic Uremic Syndrome (aHUS)CompletedNCT01770951
13To Characterize the Safety and Tolerability of Eculizumab in Two Japanese aHUS PatientsCompletedNCT01755429
14Haemolytic Uraemic Syndrome in Childhood: Clinical, Cognitive and Psychological AspectsCompletedNCT01666548
15Complement Activation During Hemodialysis in Atypical Hemolytic Uraemic Syndrome as Underlying Kidney DiseaseRecruitingNCT00930423
16Atypcial Hemolytic-Uremic Syndrome (aHUS) RegistryRecruitingNCT01522183
17Study of 'Vascular Competence' Profile and Endothelial Activation in the Hemolytic Uremic Syndrome in Children and AdultsRecruitingNCT02904863
18aHUS Observational Long Term Follow-UpActive, not recruitingNCT01522170
19The Role of Microparticles as a BiomarkerEnrolling by invitationNCT02626663
20International Registry and Biorepository for TMA(Thrombotic Microangiopathy)TerminatedNCT00593229

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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 Syndrome 125
2 Atypical Hemolytic Uremic Syndrome25
3 Hemolytic Uremic Syndrome, Atypical, Susceptibility to25
4 Atypical Hemolytic-Uremic Syndrome23 THBD

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 1

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

34
Kidney, Endothelial

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

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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:

68 (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:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1CFHNM_000186.3(CFH): c.3643C> G (p.Arg1215Gly)single nucleotide variantrisk factorrs121913051GRCh37Chr 1, 196716390: 196716390
2CFHNM_000186.3(CFH): c.3572C> T (p.Ser1191Leu)single nucleotide variantPathogenic, risk factorrs460897GRCh37Chr 1, 196716319: 196716319
3CFHNM_000186.3(CFH): c.3677_*4del24deletionrisk factorrs796052136GRCh37Chr 1, 196716424: 196716447
4CFHNM_000186.3(CFH): c.3566T> G (p.Leu1189Arg)single nucleotide variantrisk factorrs121913055GRCh37Chr 1, 196716313: 196716313
5CFHNM_000186.3(CFH): c.83_86delGAAA (p.Arg28Ilefs)deletionrisk factorrs796052137GRCh37Chr 1, 196642132: 196642135
6CFHNM_000186.3(CFH): c.2697T> A (p.Tyr899Ter)single nucleotide variantrisk factorrs121913057GRCh37Chr 1, 196706705: 196706705
7CFHNM_000186.3(CFH): c.3628C> T (p.Arg1210Cys)single nucleotide variantPathogenic, risk factorrs121913059GRCh37Chr 1, 196716375: 196716375
8CFHNM_000186.3(CFH): c.3514G> T (p.Glu1172Ter)single nucleotide variantrisk factorrs121913060GRCh37Chr 1, 196716261: 196716261
9CFHNM_000186.3(CFH): c.3592G> T (p.Glu1198Ter)single nucleotide variantrisk factorrs121913063GRCh37Chr 1, 196716339: 196716339
10NC_000001.11deletionPathogenicGRCh37Chr 1, 196712876: 196797546
11CFHNM_000186.3(CFH): c.3590T> C (p.Val1197Ala)single nucleotide variantPathogenicrs460184GRCh37Chr 1, 196716337: 196716337
12BAATNM_001701.3(BAAT): c.858C> G (p.Ser286=)single nucleotide variantPathogenicrs80356746GRCh37Chr 9, 104125109: 104125109
13BAATNM_001701.3(BAAT): c.967A> G (p.Ile323Val)single nucleotide variantPathogenicrs80356747GRCh37Chr 9, 104125000: 104125000
14C3AR1NM_004054.3(C3AR1): c.355_356dupGA (p.Asp119Glufs)duplicationLikely pathogenicrs869312973GRCh37Chr 12, 8212426: 8212427

Copy number variations for Hemolytic Uremic Syndrome, Atypical 1 from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1262801198700000214500000DeletionCFHR1Atypical hemolytic uremic syndrome
2262811198700000214500000DeletionCFHR3Atypical hemolytic uremic syndrome
3262821198700000214500000DeletionCFHR4Atypical hemolytic uremic syndrome

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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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
1blood microparticleGO:00725629.0CFH, CFHR1, CFHR3
2extracellular spaceGO:00056158.3CFH, CFHR1, CFHR3, THBD

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

idNameGO IDScoreTop Affiliating Genes
1complement activation, alternative pathwayGO:00069579.6CFH, CFHR5
2complement activationGO:00069569.5CFH, CFHR1

Sources for Hemolytic Uremic Syndrome, Atypical 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet