AHUS1
MCID: HML033
MIFTS: 47

Hemolytic Uremic Syndrome, Atypical 1 (AHUS1) 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:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hemolytic Uremic Syndrome, Atypical 1:

Name: Hemolytic Uremic Syndrome, Atypical 1 52
Ahus 48 24 25 54 70
Atypical Hemolytic-Uremic Syndrome 24 25 54 27
Atypical Hus 48 24 54
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1 52 12
Hemolytic-Uremic Syndrome Without Diarrhea 54 70
Hemolytic Uremic Syndrome Atypical 1 70 27
Atypical Hemolytic Uremic Syndrome 48 68
Hemolytic-Uremic Syndrome 70 68
Hemolytic-Uremic Syndrome Without Diarrhea with Anti-Factor H Antibodies 54
Atypical Hemolytic-Uremic Syndrome with Anti-Factor H Antibodies 54
Atypical Hemolytic Uremic Syndrome with H Factor Anomaly 70
Atypical Hus with Anti-Factor H Antibodies 54
Hemolytic-Uremic Syndrome with Diarrhea 54
Hereditary Hemolytic-Uremic Syndrome 24
Non-Shiga-Like Toxin-Associated Hus 25
 
D-Hus with Anti-Factor H Antibodies 54
Hemolytic Uremic Syndrome, Atypical 52
Hemolytic Uremic Syndrome, Typical 68
Familial Hemolytic-Uremic Syndrome 24
Ahus with Anti-Factor H Antibodies 54
Typical Hemolytic-Uremic Syndrome 54
Shiga-Like Toxin-Associated Hus 54
Nonenteropathic Hus 25
Hus, Atypical 48
Typical Hus 54
Non-Stx-Hus 25
Sxt-Hus 54
D+hus 54
D Hus 70
Ahus1 70
D-Hus 54

Characteristics:

Orphanet epidemiological data:

54
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:

64
hemolytic uremic syndrome, atypical 1:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 235400
MESH via Orphanet40 C538266
UMLS via Orphanet69 C2931788
ICD10 via Orphanet31 D58.8, D59.3
MeSH39 D006463

Summaries for Hemolytic Uremic Syndrome, Atypical 1

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OMIM:52 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 Array, Array and Array. 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. Affiliated tissues include kidney.

Genetics Home Reference:25 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:48 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. in about 60% of ahus, a gene mutation may be identified. the genes associated with genetic ahus include c3, cd46 (mcp), cfb, cfh, cfhr1, cfhr3, cfhr4, cfi, dgke, and thbd. mutations in these genes  increase the likelihood (predisposition) to developing ahus, rather than directly causing the disease. most cases are sporadic. in familiar cases, predisposition to ahus is inherited in 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: 1/23/2017

UniProtKB/Swiss-Prot:70 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 37)
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 syndrome12.1
9c3-related atypical hemolytic-uremic syndrome12.1
10cd46-related atypical hemolytic-uremic syndrome12.1
11cfb-related atypical hemolytic-uremic syndrome12.1
12cfh-related atypical hemolytic-uremic syndrome12.1
13cfhr1 and cfhr4-related atypical hemolytic-uremic syndrome12.1
14cfhr3 and cfhr1-related atypical hemolytic-uremic syndrome12.1
15cfi-related atypical hemolytic-uremic syndrome12.1
16dgke-related atypical hemolytic-uremic syndrome12.1
17atypical hemolytic-uremic syndrome with h factor anomaly12.1
18nephrotic syndrome, type 711.8
19hemolytic-uremic syndrome10.5
20elane-related neutropenia10.1CFH, CFHR5
21multiple synostoses syndrome 110.1CFH, DGKE
22uterine adnexa cancer10.1CFH, CFHR1
23desmoplastic small round cell tumor10.1CFH, CFHR5
24bronchiolitis10.0CFH, CFHR5
25extraventricular neurocytoma10.0CFH, CFI
26pdgfra-associated chronic eosinophilic leukemia10.0CFHR1, CFHR3, CFHR5
27acute ackee fruit intoxication10.0CFH, CFI
28peritonitis9.9
29macular degeneration, age-related, 49.9CFH, CFHR1, CFI
30thyroid cancer, anaplastic9.9CFH, THBD
31septic myocarditis9.8CFI, THBD
32heart valve disease9.8CFH, CFHR5, CFI
33placental choriocarcinoma9.7CFH, CFHR1, CFHR3, CFI
34acute proliferative glomerulonephritis9.7CFH, CFI, THBD
35camptodactyly-arthropathy-coxa vara-pericarditis syndrome9.4CFH, CFHR1, CFHR3, CFHR4, CFHR5, CFI
36chronic progressive external ophthalmoplegia9.1CFH, CFHR1, CFHR3, CFHR5, CFI, DGKE
37complement factor h deficiency8.8BAAT, CFH, CFHR1, CFHR3, CFHR4, CFHR5

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



Diseases related to hemolytic uremic syndrome, atypical 1

Symptoms & Phenotypes for Hemolytic Uremic Syndrome, Atypical 1

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Symptoms by clinical synopsis from OMIM:

235400

Clinical features from OMIM:

235400

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 1:

 54 64 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria54 Very frequent (99-80%)
2 hematuria54 Very frequent (99-80%)
3 abnormality of blood and blood-forming tissues54 Very frequent (99-80%)
4 thrombocytopenia64 54 Very frequent (99-80%) HP:0001873
5 acute kidney injury64 54 Very frequent (99-80%) HP:0001919
6 microangiopathic hemolytic anemia64 54 Very frequent (99-80%) HP:0001937
7 abnormality of metabolism/homeostasis54 Very frequent (99-80%)
8 abnormal lactate dehydrogenase activity54 Very frequent (99-80%)
9 complement deficiency54 Frequent (79-30%)
10 abnormality of complement system54 Frequent (79-30%)
11 decreased serum complement factor i64 54 Frequent (79-30%) HP:0005356
12 decreased serum complement factor b64 54 Frequent (79-30%) HP:0005416
13 decreased level of thrombomodulin54 Frequent (79-30%)
14 hypertension64 HP:0000822
15 purpura64 HP:0000979
16 seizures64 HP:0001250
17 coma64 HP:0001259
18 hemiparesis64 HP:0001269
19 reticulocytosis64 HP:0001923
20 fever64 HP:0001945
21 schistocytosis64 HP:0001981
22 diarrhea64 HP:0002014
23 dysphasia64 HP:0002357
24 hyperlipidemia64 HP:0003077
25 increased blood urea nitrogen64 HP:0003138
26 elevated serum creatinine64 HP:0003259
27 decreased serum complement factor h64 HP:0005369
28 decreased serum complement c364 HP:0005421
29 hemolytic-uremic syndrome64 HP:0005575
30 anuria64 HP:0100519
31 cognitive impairment64 HP:0100543

Drugs & Therapeutics for Hemolytic Uremic Syndrome, Atypical 1

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Drugs for Hemolytic Uremic Syndrome, Atypical 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Complement System ProteinsPhase 3, Phase 2232
2Complement Inactivating AgentsPhase 396

Interventional clinical trials:

(show all 22)
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
3Single Arm Study of ALXN1210 in Complement Inhibitor Treatment-Naïve Adult and Adolescent Patients With Atypical Hemolytic Uremic Syndrome (aHUS)RecruitingNCT02949128Phase 3
4Study of ALXN1210 in Children and Adolescents With Atypical Hemolytic Uremic Syndrome (aHUS)Not yet recruitingNCT03131219Phase 3
5An Open-label, Multi-center Clinical Trial of Eculizumab in Adult Patients With Atypical Hemolytic-uremic SyndromeCompletedNCT01194973Phase 2
6An Open-Label, Multi-Center Clinical Trial of Eculizumab in Pediatric Patients With Atypical Hemolytic-Uremic SyndromeCompletedNCT01193348Phase 2
7Open Label Controlled Trial of Eculizumab in Adult Patients With Plasma Therapy-sensitive Atypical Hemolytic Uremic Syndrome (aHUS)CompletedNCT00838513Phase 2
8Open Label Controlled Trial of Eculizumab in Adult Patients With Plasma Therapy-Resistant aHUSCompletedNCT00844545Phase 2
9Open Label Controlled Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Resistant aHUSCompletedNCT00844844Phase 2
10Open Label Controlled Trial of Eculizumab in Adolescent Patients With Plasma Therapy-Sensitive aHUSCompletedNCT00844428Phase 2
11The Safety and Efficacy of Eculizumab in Japanese Patients With Atypical Hemolytic Uremic Syndrome (aHUS)CompletedNCT01757431Phase 2
12Safety and Efficacy Study of OMS721 in Patients With Thrombotic MicroangiopathiesRecruitingNCT02222545Phase 2
13Complement Inhibition in aHUS Dialysis PatientsTerminatedNCT02464891Phase 2
14Complement Activation During Hemodialysis in Atypical Hemolytic Uraemic Syndrome as Underlying Kidney DiseaseUnknown statusNCT00930423
15A Retrospective, Observational, Non-interventional Trial to Assess Eculizumab Treatment Effect in Patients With Atypical Hemolytic Uremic Syndrome (aHUS)CompletedNCT01770951
16To Characterize the Safety and Tolerability of Eculizumab in Two Japanese aHUS PatientsCompletedNCT01755429
17Haemolytic Uraemic Syndrome in Childhood: Clinical, Cognitive and Psychological AspectsCompletedNCT01666548
18Atypcial Hemolytic-Uremic Syndrome (aHUS) RegistryRecruitingNCT01522183
19Study of 'Vascular Competence' Profile and Endothelial Activation in the Hemolytic Uremic Syndrome in Children and AdultsRecruitingNCT02904863
20The Role of Microparticles as a BiomarkerEnrolling by invitationNCT02626663
21aHUS Observational Long Term Follow-UpTerminatedNCT01522170
22International 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 127
2 Atypical Hemolytic Uremic Syndrome27
3 Hemolytic Uremic Syndrome, Atypical, Susceptibility to27
4 Atypical Hemolytic-Uremic Syndrome24 THBD

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 1

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

36
Kidney

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:

70 (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 24)
id Gene Variation Type Significance SNP ID Assembly Location
1THBDNM_ 000361.2(THBD): c.127G> A (p.Ala43Thr)SNVrisk factorrs1800576GRCh37Chr 20, 23030015: 23030015
2DGKENM_ 003647.2(DGKE): c.1000C> T (p.Gln334Ter)SNVLikely pathogenicrs312262697GRCh37Chr 17, 54926168: 54926168
3DGKENM_ 003647.2(DGKE): c.472dupT (p.Trp158Leufs)duplicationLikely pathogenicrs312262698GRCh37Chr 17, 54921387: 54921387
4DGKENM_ 003647.2(DGKE): c.486dupA (p.Val163Serfs)duplicationLikely pathogenic, risk factorrs312262699GRCh37Chr 17, 54921401: 54921401
5DGKENM_ 003647.2(DGKE): c.889-1G> ASNVLikely pathogenicrs312262696GRCh37Chr 17, 54926056: 54926056
6DGKENM_ 003647.2(DGKE): c.966G> A (p.Trp322Ter)SNVLikely pathogenic, risk factorrs138924661GRCh37Chr 17, 54926134: 54926134
7C2; CFBNM_ 001710.5(CFB): c.95G> A (p.Arg32Gln)SNVprotectivers641153GRCh37Chr 6, 31914180: 31914180
8CFHNM_ 000186.3(CFH): c.3643C> G (p.Arg1215Gly)SNVrisk factorrs121913051GRCh37Chr 1, 196716390: 196716390
9CFHNM_ 000186.3(CFH): c.3572C> T (p.Ser1191Leu)SNVPathogenic, risk factorrs460897GRCh37Chr 1, 196716319: 196716319
10CFHNM_ 000186.3(CFH): c.3677_ *4del24deletionrisk factorrs796052136GRCh37Chr 1, 196716424: 196716447
11CFHNM_ 000186.3(CFH): c.3566T> G (p.Leu1189Arg)SNVrisk factorrs121913055GRCh37Chr 1, 196716313: 196716313
12CFHNM_ 000186.3(CFH): c.83_ 86delGAAA (p.Arg28Ilefs)deletionrisk factorrs796052137GRCh37Chr 1, 196642132: 196642135
13CFHNM_ 000186.3(CFH): c.2697T> A (p.Tyr899Ter)SNVrisk factorrs121913057GRCh37Chr 1, 196706705: 196706705
14CFHNM_ 000186.3(CFH): c.3628C> T (p.Arg1210Cys)SNVPathogenic, risk factorrs121913059GRCh37Chr 1, 196716375: 196716375
15CFHNM_ 000186.3(CFH): c.3514G> T (p.Glu1172Ter)SNVrisk factorrs121913060GRCh37Chr 1, 196716261: 196716261
16CFHNM_ 000186.3(CFH): c.3592G> T (p.Glu1198Ter)SNVrisk factorrs121913063GRCh37Chr 1, 196716339: 196716339
17CFH; CFHR1; CFHR3NC_ 000001.11: g.(196743746_ 196743798)_ (196828364_ 196828416)deldeletionPathogenicGRCh37Chr 1, 196712876: 196797546
18CFHNM_ 000186.3(CFH): c.3590T> C (p.Val1197Ala)SNVPathogenicrs460184GRCh37Chr 1, 196716337: 196716337
19BAATNM_ 001701.3(BAAT): c.858C> G (p.Ser286=)SNVPathogenicrs80356746GRCh37Chr 9, 104125109: 104125109
20BAATNM_ 001701.3(BAAT): c.967A> G (p.Ile323Val)SNVPathogenicrs80356747GRCh37Chr 9, 104125000: 104125000
21C3AR1NM_ 004054.3(C3AR1): c.355_ 356dupGA (p.Asp119Glufs)duplicationLikely pathogenicrs869312973GRCh37Chr 12, 8212426: 8212427
22CFHNM_ 000186.3(CFH): c.2950T> C (p.Cys984Arg)SNVLikely pathogenicrs886039869GRCh37Chr 1, 196709916: 196709916
23DGKENM_ 003647.2(DGKE): c.32C> A (p.Ser11Ter)SNVLikely pathogenic, risk factorrs148605410GRCh37Chr 17, 54912188: 54912188
24DGKENM_ 003647.2(DGKE): c.818G> C (p.Arg273Pro)SNVLikely pathogenic, risk factorrs312262695GRCh37Chr 17, 54925356: 54925356

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:007256210.2CFH, CFHR1, CFHR3
2extracellular spaceGO:00056158.3CFH, CFHR1, CFHR3, CFI, THBD

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

idNameGO IDScoreTop Affiliating Genes
1complement activationGO:000695610.4CFH, CFHR1
2complement activation, alternative pathwayGO:000695710.2CFH, CFHR5
3regulation of complement activationGO:00304498.3CFH, CFHR1, CFHR4, CFHR5, CFI

Sources for Hemolytic Uremic Syndrome, Atypical 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet