MCID: HML033
MIFTS: 48

Hemolytic Uremic Syndrome, Atypical 1 malady

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

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 1

About this section
Sources:
49OMIM, 67UniProtKB/Swiss-Prot, 11diseasecard, 24GTR, 21GeneReviews, 23Genetics Home Reference, 51Orphanet, 22GeneTests, 45NIH Rare Diseases, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Hemolytic Uremic Syndrome, Atypical 1:

Name: Hemolytic Uremic Syndrome, Atypical 1 49
Ahus 21 45 22 23 51 67
Atypical Hemolytic Uremic Syndrome 45 22 24 65
Atypical Hemolytic-Uremic Syndrome 21 23 51
Atypical Hus 21 45 51
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1 11 24
Hemolytic-Uremic Syndrome Without Diarrhea 51 67
Hereditary Hemolytic-Uremic Syndrome 21 22
Familial Hemolytic-Uremic Syndrome 21 22
Hus, Atypical 45 22
 
Atypical Hemolytic Uremic Syndrome with H Factor Anomaly 67
Hemolytic Uremic Syndrome Atypical 1 67
Hemolytic Uremic Syndrome, Atypical 49
Non-Shiga-Like Toxin-Associated Hus 23
Hemolytic-Uremic Syndrome 67
Nonenteropathic Hus 23
Non-Stx-Hus 23
D Hus 67
D-Hus 51
Ahus1 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
ahus:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age


External Ids:

OMIM49 235400
Orphanet51 2134
UMLS via Orphanet66 C2931788
ICD10 via Orphanet28 D58.8
MESH via Orphanet37 C538266
MeSH36 D006463

Summaries for Hemolytic Uremic Syndrome, Atypical 1

About this section
OMIM:49 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 5 and complement factor h deficiency, 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 Immune System. Affiliated tissues include kidney, and related mouse phenotype renal/urinary system.

Genetics Home Reference:23 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:45 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:67 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.

GeneReviews summary for husa

Related Diseases for Hemolytic Uremic Syndrome, Atypical 1

About this section

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 top 50)    (show all 214)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic uremic syndrome, atypical 530.9C3, CD46
2complement factor h deficiency30.9CD46, CFH, CFI
3purpura11.1
4thrombotic thrombocytopenic purpura11.1
5hemolytic-uremic syndrome10.9
6diarrhea10.9
7pneumonia10.8
8typical hemolytic-uremic syndrome10.8
9hemolytic uremic syndrome, atypical 210.7
10hemolytic uremic syndrome, atypical 310.7
11hemolytic uremic syndrome, atypical 410.7
12hemolytic uremic syndrome, atypical 610.7
13endotheliitis10.7
14hemolytic anemia10.7
15thrombocytopenia10.7
16deficiency anemia10.7
17glomerulonephritis10.7
18thrombocytosis10.7
19blood platelet disease10.7
20capillary disease10.7
21uremia10.7
22child syndrome10.6
23pancreatitis10.6
24kid syndrome10.6
25encephalopathy10.6
26hemolytic uremic syndrome, atypical, childhood10.6
27c syndrome10.6
28adult syndrome10.6
29anuria10.6
30thrombocytopenia 210.5
31colitis10.5
32influenza10.5
33glomerular disease10.5
34nephrotic syndrome, type 710.5
35malaria10.5
36leukemia10.5
37shigellosis10.5
38membranoproliferative glomerulonephritis10.5
39nephrosclerosis10.5
40malignant hypertension10.5
41retinitis10.5
42urinary system disease10.5
43d-minus hemolytic uremic syndrome10.5
44d-plus hemolytic uremic syndrome10.5
45atypical hemolytic-uremic syndrome with thrombomodulin anomaly10.5
46atypical hemolytic-uremic syndrome with dgke deficiency10.5
47atypical hemolytic-uremic syndrome with b factor anomaly10.5
48atypical hemolytic-uremic syndrome with h factor anomaly10.5
49atypical hemolytic-uremic syndrome with c3 anomaly10.5
50atypical hemolytic-uremic syndrome with mcp/cd46 anomaly10.5

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

About this section

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

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Complement System ProteinsPhase 2171

Interventional clinical trials:

(show all 19)
idNameStatusNCT IDPhase
1Eval. of Potential Predictors of Disease Progression in Patients With aHUS Including Genetics, Biomarkers and TreatmentEnrolling by invitationNCT02614898Phase 4
2Study Assessing an Algorithm-based Strategy of Eculizumab Discontinuation in Children and Adults With aHUSNot yet recruitingNCT02574403Phase 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
17aHUS Observational Long Term Follow-UpEnrolling by invitationNCT01522170
18The Role of Microparticles as a BiomarkerNot yet recruitingNCT02626663
19International Registry and Biorepository for TMA(Thrombotic Microangiopathy)TerminatedNCT00593229

Search NIH Clinical Center for Hemolytic Uremic Syndrome, Atypical 1

Genetic Tests for Hemolytic Uremic Syndrome, Atypical 1

About this section

Genetic tests related to Hemolytic Uremic Syndrome, Atypical 1:

id Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome22 24 THBD
2 Atypical Hemolytic-Uremic Syndrome 124

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 1

About this section

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

33
Kidney

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

About this section

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.8C3, CFB, CFH, CFI, THBD

Publications for Hemolytic Uremic Syndrome, Atypical 1

About this section

Variations for Hemolytic Uremic Syndrome, Atypical 1

About this section

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

67 (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 33)
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
10CFHNM_000186.3(CFH): c.3677_*4del24deletionrisk factorrs796052136GRCh37Chr 1, 196716424: 196716447
11CFHNM_000186.3(CFH): c.3566T> G (p.Leu1189Arg)single nucleotide variantrisk 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)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
19NM_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_000064.3(C3): c.1775G> A (p.Arg592Gln)single nucleotide variantrisk factorrs121909583GRCh37Chr 19, 6709765: 6709765
24C3NM_000064.3(C3): c.3281C> T (p.Ala1094Val)single nucleotide variantrisk factorrs121909584GRCh37Chr 19, 6693044: 6693044
25C3NM_000064.3(C3): c.3343G> A (p.Asp1115Asn)single nucleotide variantrisk factorrs121909585GRCh37Chr 19, 6692982: 6692982
26C3NM_000064.3(C3): c.2562C> G (p.Tyr854Ter)single nucleotide variantrisk factorrs121909586GRCh37Chr 19, 6697684: 6697684
27C3NM_000064.3(C3): c.640C> T (p.Pro214Ser)single nucleotide variantLikely pathogenicrs794729228GRCh37Chr 19, 6714219: 6714219
28NC_000001.11deletionPathogenicGRCh37Chr 1, 196712876: 196797546
29CFHNM_000186.3(CFH): c.3590T> C (p.Val1197Ala)single nucleotide variantPathogenicrs460184GRCh37Chr 1, 196716337: 196716337
30BAATNM_001701.3(BAAT): c.858C> G (p.Ser286=)single nucleotide variantPathogenicrs80356746GRCh37Chr 9, 104125109: 104125109
31BAATNM_001701.3(BAAT): c.967A> G (p.Ile323Val)single nucleotide variantPathogenicrs80356747GRCh37Chr 9, 104125000: 104125000
32CFINM_000204.3(CFI): c.782G> A (p.Gly261Asp)single nucleotide variantPathogenicrs112534524GRCh37Chr 4, 110681527: 110681527
33CFICFI, GLY119ARGsingle nucleotide variantrisk factor

Expression for genes affiliated with Hemolytic Uremic Syndrome, Atypical 1

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

Pathways for genes affiliated with Hemolytic Uremic Syndrome, Atypical 1

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725628.5C3, CFB, CFH, CFHR1, CFHR3
2extracellular exosomeGO:00700627.1C3, CD46, CFB, CFH, CFHR1, CFHR3
3extracellular spaceGO:00056156.8C3, CFB, CFH, CFHR1, CFHR3, CFI

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

idNameGO IDScoreTop Affiliating Genes
1fatty acid metabolic processGO:00066319.5BAAT, C3
2complement activation, alternative pathwayGO:00069579.1C3, CFB, CFH
3complement activation, classical pathwayGO:00069589.1C3, CD46, CFI
4complement activationGO:00069568.8C3, CFB, CFH, CFHR1
5regulation of complement activationGO:00304498.2C3, CD46, CFB, CFH, CFI
6innate immune responseGO:00450877.8C3, CD46, CFB, CFH, CFI

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

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

Sources for Hemolytic Uremic Syndrome, Atypical 1

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet