MCID: HML033
MIFTS: 39

Hemolytic Uremic Syndrome, Atypical 1 malady

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

Aliases & Classifications for Hemolytic Uremic Syndrome, Atypical 1

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Sources:
49OMIM, 67UniProtKB/Swiss-Prot, 65UMLS, 11diseasecard, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 45NIH Rare Diseases, 24GTR, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards 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 21 22 23 51
Atypical Hus 21 45 22 51
Atypical Hemolytic Uremic Syndrome 45 24 65
Hemolytic-Uremic Syndrome Without Diarrhea 51 67
Hemolytic Uremic Syndrome Atypical 1 67 24
Hereditary Hemolytic-Uremic Syndrome 21 22
Familial Hemolytic-Uremic Syndrome 21 22
Hemolytic-Uremic Syndrome 67 65
 
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1 11
Atypical Hemolytic Uremic Syndrome with H Factor Anomaly 67
Hemolytic Uremic Syndrome, Atypical 49
Non-Shiga-Like Toxin-Associated Hus 23
Nonenteropathic Hus 23
Hus, Atypical 45
Non-Stx-Hus 23
D-Hus 51
D Hus 67
Ahus1 67

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

HPO:

61
hemolytic uremic syndrome, atypical 1:
Inheritance: autosomal recessive inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 235400
Orphanet51 2134
UMLS via Orphanet66 C2931788
ICD10 via Orphanet28 D58.8
MESH via Orphanet37 C538266
MeSH36 D006463
UMLS65 C2931788

Summaries for Hemolytic Uremic Syndrome, Atypical 1

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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 and hemolytic uremic syndrome, atypical 2, and has symptoms including cognitive impairment, anuria and hemolytic-uremic syndrome. 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.

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.

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.

GeneReviews summary for NBK1367

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 41)
idRelated DiseaseScoreTop Affiliating Genes
1hemolytic-uremic syndrome13.0
2hemolytic uremic syndrome, atypical 212.8
3hemolytic uremic syndrome, atypical 312.8
4hemolytic uremic syndrome, atypical 412.8
5hemolytic uremic syndrome, atypical 512.8
6hemolytic uremic syndrome, atypical 612.8
7hemolytic uremic syndrome, atypical, childhood12.8
8thbd-related atypical hemolytic-uremic syndrome12.7
9c3-related atypical hemolytic-uremic syndrome12.6
10cd46-related atypical hemolytic-uremic syndrome12.6
11cfb-related atypical hemolytic-uremic syndrome12.6
12cfh-related atypical hemolytic-uremic syndrome12.6
13cfhr1 and cfhr4-related atypical hemolytic-uremic syndrome12.6
14cfhr3 and cfhr1-related atypical hemolytic-uremic syndrome12.6
15cfi-related atypical hemolytic-uremic syndrome12.6
16dgke-related atypical hemolytic-uremic syndrome12.6
17atypical hemolytic-uremic syndrome with thrombomodulin anomaly12.6
18atypical hemolytic-uremic syndrome with dgke deficiency12.6
19atypical hemolytic-uremic syndrome with b factor anomaly12.6
20atypical hemolytic-uremic syndrome with h factor anomaly12.6
21atypical hemolytic-uremic syndrome with c3 anomaly12.6
22atypical hemolytic-uremic syndrome with mcp/cd46 anomaly12.6
23atypical hemolytic-uremic syndrome with i factor anomaly12.6
24atypical hemolytic-uremic syndrome with anti-factor h antibodies12.6
25nephrotic syndrome, type 712.2
26typical hemolytic-uremic syndrome11.6
27down syndrome10.2
28sclerosing cholangitis10.2
29cholangitis10.2
30leukemia10.2
31autoimmune hemolytic anemia, warm type10.0CFH, THBD
32autosomal recessive proximal renal tubular acidosis9.9CFHR1, CFHR3
33tongue squamous cell carcinoma9.9CFH, THBD
34cask-related intellectual disability9.9CFHR1, CFHR3
35dentin dysplasia sclerotic bones9.9CFH, CFHR1
36thumb absent short stature immune deficiency9.9CFH, THBD
37odontoclasia9.7CFH, CFHR1
38connective tissue cancer9.7CFH, CFHR1, CFHR3
39macular degeneration, age-related, 19.5CFH, CFHR1, CFHR3
40acute kidney tubular necrosis9.3CFH, CFHR1, CFHR3, THBD
41hemolytic uremic syndrome, atypical 18.8BAAT, CFH, CFHR1, CFHR3, 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 cognitive impairment HP:0100543
2 anuria HP:0100519
3 hemolytic-uremic syndrome HP:0005575
4 decreased serum complement c3 HP:0005421
5 decreased serum complement factor b HP:0005416
6 decreased serum complement factor h HP:0005369
7 decreased serum complement factor i HP:0005356
8 elevated serum creatinine HP:0003259
9 increased blood urea nitrogen (bun) HP:0003138
10 hyperlipidemia HP:0003077
11 dysphasia HP:0002357
12 diarrhea HP:0002014
13 schistocytosis HP:0001981
14 fever HP:0001945
15 microangiopathic hemolytic anemia HP:0001937
16 reticulocytosis HP:0001923
17 acute kidney injury HP:0001919
18 thrombocytopenia HP:0001873
19 hemiparesis HP:0001269
20 coma HP:0001259
21 seizures HP:0001250
22 purpura HP:0000979
23 hypertension HP:0000822

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 2190

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
12Safety and Effect of GL-ONC1 Administered IV With or Without Eculizumab Prior to Surgery to Patients With Solid Organ Cancers Undergoing SurgeryRecruitingNCT02714374Phase 1
13A Retrospective, Observational, Non-interventional Trial to Assess Eculizumab Treatment Effect in Patients With Atypical Hemolytic Uremic Syndrome (aHUS)CompletedNCT01770951
14To Characterize the Safety and Tolerability of Eculizumab in Two Japanese aHUS PatientsCompletedNCT01755429
15Haemolytic Uraemic Syndrome in Childhood: Clinical, Cognitive and Psychological AspectsCompletedNCT01666548
16Complement Activation During Hemodialysis in Atypical Hemolytic Uraemic Syndrome as Underlying Kidney DiseaseRecruitingNCT00930423
17Atypcial Hemolytic-Uremic Syndrome (aHUS) RegistryRecruitingNCT01522183
18aHUS Observational Long Term Follow-UpEnrolling by invitationNCT01522170
19The Role of Microparticles as a BiomarkerNot yet recruitingNCT02626663
20International 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

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Genetic tests related to Hemolytic Uremic Syndrome, Atypical 1:

id Genetic test Affiliating Genes
1 Atypical Hemolytic-Uremic Syndrome22 THBD

Anatomical Context for Hemolytic Uremic Syndrome, Atypical 1

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

33
Kidney

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:

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 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_004054.2(C3AR1): c.355_356dupGA (p.Asp119Glufs)duplicationLikely pathogenicrs869312973GRCh37Chr 12, 8212426: 8212427

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:00725629.3CFHR1, CFHR3

Sources for Hemolytic Uremic Syndrome, Atypical 1

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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