MCID: HML033
MIFTS: 48

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:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hemolytic Uremic Syndrome, Atypical 1:

Name: Hemolytic Uremic Syndrome, Atypical 1 51
Ahus 47 24 25 53 69
Atypical Hemolytic-Uremic Syndrome 24 25 53 26
Atypical Hus 47 24 53
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1 51 12
Hemolytic-Uremic Syndrome Without Diarrhea 53 69
Hemolytic Uremic Syndrome Atypical 1 69 26
Atypical Hemolytic Uremic Syndrome 47 67
Hemolytic-Uremic Syndrome 69 67
Hemolytic-Uremic Syndrome Without Diarrhea with Anti-Factor H Antibodies 53
Atypical Hemolytic-Uremic Syndrome with Anti-Factor H Antibodies 53
Atypical Hemolytic Uremic Syndrome with H Factor Anomaly 69
Atypical Hus with Anti-Factor H Antibodies 53
Hemolytic-Uremic Syndrome with Diarrhea 53
Hereditary Hemolytic-Uremic Syndrome 24
Non-Shiga-Like Toxin-Associated Hus 25
 
D-Hus with Anti-Factor H Antibodies 53
Hemolytic Uremic Syndrome, Atypical 51
Hemolytic Uremic Syndrome, Typical 67
Familial Hemolytic-Uremic Syndrome 24
Ahus with Anti-Factor H Antibodies 53
Typical Hemolytic-Uremic Syndrome 53
Shiga-Like Toxin-Associated Hus 53
Nonenteropathic Hus 25
Hus, Atypical 47
Typical Hus 53
Non-Stx-Hus 25
Sxt-Hus 53
D+hus 53
D Hus 69
Ahus1 69
D-Hus 53

Characteristics:

Orphanet epidemiological data:

53
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:

63
hemolytic uremic syndrome, atypical 1:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 235400
MESH via Orphanet39 C538266
UMLS via Orphanet68 C2931788
ICD10 via Orphanet30 D58.8, D59.3
MeSH38 D006463

Summaries for Hemolytic Uremic Syndrome, Atypical 1

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OMIM:51 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 complement factor h deficiency and hemolytic uremic syndrome, atypical 2, 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 Staphylococcus aureus infection and Immune response Lectin induced complement pathway. Affiliated tissues include kidney and endothelial.

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:47 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. These genes confers an increasing 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:69 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
1complement factor h deficiency31.7CFH, CFHR1, CFI
2hemolytic uremic syndrome, atypical 212.5
3hemolytic uremic syndrome, atypical 312.5
4hemolytic uremic syndrome, atypical 412.5
5hemolytic uremic syndrome, atypical 512.5
6hemolytic uremic syndrome, atypical 612.5
7genetic atypical hemolytic-uremic syndrome12.2
8thbd-related atypical hemolytic-uremic syndrome12.1
9hemolytic uremic syndrome, atypical, childhood12.1
10c3-related atypical hemolytic-uremic syndrome12.1
11cd46-related atypical hemolytic-uremic syndrome12.1
12cfb-related atypical hemolytic-uremic syndrome12.1
13cfh-related atypical hemolytic-uremic syndrome12.1
14cfhr1 and cfhr4-related atypical hemolytic-uremic syndrome12.1
15cfhr3 and cfhr1-related atypical hemolytic-uremic syndrome12.1
16cfi-related atypical hemolytic-uremic syndrome12.1
17dgke-related atypical hemolytic-uremic syndrome12.1
18atypical hemolytic-uremic syndrome with h factor anomaly12.1
19nephrotic syndrome, type 711.8
20hemolytic-uremic syndrome10.4
21lower limb deficiency-hypospadias syndrome10.2CFH, CFI
22angioosteohypotrophic syndrome10.2CFH, CFI
23parametrium malignant neoplasm10.1CFH, CFHR1
24disorders of intracellular cobalamin metabolism10.0CFH, CFHR5
25norse10.0CFH, CFHR5
26lacrimal gland carcinoma10.0CFH, CFHR5
27diarrhea9.9
28peritonitis9.9
29thrombotic thrombocytopenic purpura9.9
30purpura9.9
31catsper1-related nonsyndromic male infertility9.7CFHR1, CFHR3, CFHR5
32third cranial nerve disease9.7CFH, CFI
33fiedler's myocarditis9.6CFI, THBD
34granuloma annulare9.6CFH, CFHR5, CFI
35hyperinsulinism9.5CFH, CFHR1, CFHR3, CFI
36tracheal cancer9.5CFI, THBD
37macular degeneration, age-related, 18.5CFH, CFHR1, CFHR3, CFHR4, CFHR5, CFI

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

Human phenotypes related to Hemolytic Uremic Syndrome, Atypical 1:

 63 (show all 23)
id Description HPO Frequency HPO Source Accession
1 hypertension63 HP:0000822
2 purpura63 HP:0000979
3 seizures63 HP:0001250
4 coma63 HP:0001259
5 hemiparesis63 HP:0001269
6 thrombocytopenia63 HP:0001873
7 acute kidney injury63 HP:0001919
8 reticulocytosis63 HP:0001923
9 microangiopathic hemolytic anemia63 HP:0001937
10 fever63 HP:0001945
11 schistocytosis63 HP:0001981
12 diarrhea63 HP:0002014
13 dysphasia63 HP:0002357
14 hyperlipidemia63 HP:0003077
15 increased blood urea nitrogen63 HP:0003138
16 elevated serum creatinine63 HP:0003259
17 decreased serum complement factor i63 HP:0005356
18 decreased serum complement factor h63 HP:0005369
19 decreased serum complement factor b63 HP:0005416
20 decreased serum complement c363 HP:0005421
21 hemolytic-uremic syndrome63 HP:0005575
22 anuria63 HP:0100519
23 cognitive impairment63 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 2228
2Complement Inactivating AgentsPhase 396

Interventional clinical trials:

(show all 21)
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)Not yet recruitingNCT02949128Phase 3
4The Safety and Efficacy of Eculizumab in Japanese Patients With Atypical Hemolytic Uremic Syndrome (aHUS)Unknown statusNCT01757431Phase 2
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
11Complement Inhibition in aHUS Dialysis PatientsRecruitingNCT02464891Phase 2
12Safety and Efficacy Study of OMS721 in Patients With Thrombotic MicroangiopathiesRecruitingNCT02222545Phase 2
13Complement Activation During Hemodialysis in Atypical Hemolytic Uraemic Syndrome as Underlying Kidney DiseaseUnknown statusNCT00930423
14A Retrospective, Observational, Non-interventional Trial to Assess Eculizumab Treatment Effect in Patients With Atypical Hemolytic Uremic Syndrome (aHUS)CompletedNCT01770951
15To Characterize the Safety and Tolerability of Eculizumab in Two Japanese aHUS PatientsCompletedNCT01755429
16Haemolytic Uraemic Syndrome in Childhood: Clinical, Cognitive and Psychological AspectsCompletedNCT01666548
17Atypcial Hemolytic-Uremic Syndrome (aHUS) RegistryRecruitingNCT01522183
18Study of 'Vascular Competence' Profile and Endothelial Activation in the Hemolytic Uremic Syndrome in Children and AdultsRecruitingNCT02904863
19aHUS Observational Long Term Follow-UpActive, not recruitingNCT01522170
20The Role of Microparticles as a BiomarkerEnrolling by invitationNCT02626663
21International 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 126
2 Atypical Hemolytic Uremic Syndrome26
3 Hemolytic Uremic Syndrome, Atypical, Susceptibility to26
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:

35
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:

69 (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 17)
id Gene Variation Type Significance SNP ID Assembly Location
1C2;CFBNM_001710.5(CFB): c.26T> A (p.Leu9His)SNVPathogenicrs4151667GRCh37Chr 6, 31914024: 31914024
2CFHNM_000186.3(CFH): c.3643C> G (p.Arg1215Gly)SNVrisk factorrs121913051GRCh38Chr 1, 196747260: 196747260
3CFHNM_000186.3(CFH): c.3572C> T (p.Ser1191Leu)SNVPathogenic, risk factorrs460897GRCh37Chr 1, 196716319: 196716319
4CFHNM_000186.3(CFH): c.3677_*4del24deletionrisk factorrs796052136GRCh37Chr 1, 196716424: 196716447
5CFHNM_000186.3(CFH): c.3566T> G (p.Leu1189Arg)SNVrisk factorrs121913055GRCh37Chr 1, 196716313: 196716313
6CFHNM_000186.3(CFH): c.83_86delGAAA (p.Arg28Ilefs)deletionrisk factorrs796052137GRCh37Chr 1, 196642132: 196642135
7CFHNM_000186.3(CFH): c.2697T> A (p.Tyr899Ter)SNVrisk factorrs121913057GRCh37Chr 1, 196706705: 196706705
8CFHNM_000186.3(CFH): c.3628C> T (p.Arg1210Cys)SNVPathogenic, risk factorrs121913059GRCh37Chr 1, 196716375: 196716375
9CFHNM_000186.3(CFH): c.3514G> T (p.Glu1172Ter)SNVrisk factorrs121913060GRCh37Chr 1, 196716261: 196716261
10CFHNM_000186.3(CFH): c.3592G> T (p.Glu1198Ter)SNVrisk factorrs121913063GRCh37Chr 1, 196716339: 196716339
11CFH;CFHR1;CFHR3NC_000001.11deletionPathogenicGRCh37Chr 1, 196712876: 196797546
12CFHNM_000186.3(CFH): c.3590T> C (p.Val1197Ala)SNVPathogenicrs460184GRCh37Chr 1, 196716337: 196716337
13BAATNM_001701.3(BAAT): c.858C> G (p.Ser286=)SNVPathogenicrs80356746GRCh37Chr 9, 104125109: 104125109
14BAATNM_001701.3(BAAT): c.967A> G (p.Ile323Val)SNVPathogenicrs80356747GRCh37Chr 9, 104125000: 104125000
15C3AR1NM_004054.3(C3AR1): c.355_356dupGA (p.Asp119Glufs)duplicationLikely pathogenicrs869312973GRCh37Chr 12, 8212426: 8212427
16CFHNM_000186.3(CFH): c.2950T> C (p.Cys984Arg)SNVLikely pathogenicrs886039869GRCh37Chr 1, 196709916: 196709916
17CFINM_000204.4(CFI): c.782G> A (p.Gly261Asp)SNVPathogenicrs112534524GRCh37Chr 4, 110681527: 110681527

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:00725629.3CFH, CFHR1, CFHR3
2extracellular regionGO:00055768.4CFH, CFHR4, CFHR5, CFI
3extracellular spaceGO:00056157.7CFH, CFHR1, CFHR3, CFI, THBD

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

idNameGO IDScoreTop Affiliating Genes
1complement activation, alternative pathwayGO:00069579.7CFH, CFHR5
2regulation of complement activationGO:00304499.6CFH, CFI
3complement activationGO:00069569.4CFH, CFHR1

Sources for Hemolytic Uremic Syndrome, Atypical 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet