Details of Disease

General Information of Disease (ID: DIS6FUDJ)

Disease Name Atypical hemolytic uremic syndrome
Synonyms
D-minus hemolytic uremic syndrome (D-HUS); HUS, atypical; hemolytic-uremic syndrome without diarrhea; non-diarrhea-associated hemolytic uremic syndrome; D-HUS; Atypical Hemolytic Uremic Syndrome; atypical HUS; hemolytic-uremic syndrome without diarrhoea; atypical hemolytic uremic syndrome; aHUS
Disease Class 3A10: Hereditary haemolytic anaemia
Definition A rare, genetic thrombotic microangiopathy due to dysregulation of the alternative complement pathway and characterized by the triad of hemolytic anemia, thrombocytopenia, and acute renal dysfunction.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISTJLCH: Hereditary hemolytic uremic syndrome
DISGN469: Complement deficiency
DISLZ0VW: Thrombotic microangiopathy
DIS6FUDJ: Atypical hemolytic uremic syndrome
ICD Code
ICD-11
ICD-11: 3A10.Y
Disease Identifiers
MONDO ID
MONDO_0016244
MESH ID
D065766
UMLS CUI
C2931788
MedGen ID
444141
Orphanet ID
2134
SNOMED CT ID
789660001

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
OMS721 DMK6QBZ Phase 3 NA [1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 12 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CD46 TTMS7DF Limited Biomarker [2]
THBD TTAPV67 Limited Biomarker [3]
ADAMTS13 TTUREBK Strong Biomarker [4]
C3 TTJGY7A Strong Biomarker [5]
C3AR1 TTI6B3F Strong Biomarker [6]
C5 TTKANGO Strong Biomarker [7]
CFB TTA0P7K Strong Biomarker [8]
CFI TT6ATLX Strong Biomarker [9]
CPB1 TT4UJX5 Strong Genetic Variation [10]
GPR182 TTT23CG Strong Biomarker [11]
CFH TTUW6OP Definitive Semidominant [12]
CFI TT6ATLX Definitive Autosomal dominant [12]
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⏷ Show the Full List of 12 DTT(s)
This Disease Is Related to 12 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C17orf67 OTCL5EE8 Strong CausalMutation [13]
CAPG OTJ86KI6 Strong Genetic Variation [14]
CFHR3 OTYL8SDO Strong Biomarker [15]
CFHR4 OTWXGQMU Strong Biomarker [16]
CFHR5 OT7BMOYE Strong Biomarker [17]
DGKE OTWS86AS Strong Biomarker [4]
GRHPR OTLV63QV Strong Altered Expression [16]
MASP1 OTWWCNZP Strong Genetic Variation [4]
PIGA OT51UWUR Strong Biomarker [18]
SMARCAL1 OTTKXLUZ Strong Genetic Variation [19]
CFH OTAGKQTJ Definitive Semidominant [12]
CFI OTQYYX0P Definitive Autosomal dominant [12]
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⏷ Show the Full List of 12 DOT(s)

References

1 ClinicalTrials.gov (NCT03205995) Safety and Efficacy Study of OMS721 in Patients With Atypical Hemolytic Uremic Syndrome (aHUS). U.S. National Institutes of Health.
2 Mother and Child Reunion in "Hypertensive" End-Stage Renal Disease: Will They Complement Each Other?.Nephron. 2019;142(3):253-257. doi: 10.1159/000497779. Epub 2019 Mar 14.
3 Thrombomodulin and Endothelial Dysfunction: A Disease-Modifier Shared between Malignant Hypertension and Atypical Hemolytic Uremic Syndrome.Nephron. 2018;140(1):63-73. doi: 10.1159/000490201. Epub 2018 Jun 25.
4 Whole-exome sequencing detects mutations in pediatric patients with atypical hemolytic uremic syndrome in Taiwan.Clin Chim Acta. 2019 Jul;494:143-150. doi: 10.1016/j.cca.2019.03.1623. Epub 2019 Mar 21.
5 Hyperfunctional complement C3 promotes C5-dependent atypical hemolytic uremic syndrome in mice.J Clin Invest. 2019 Mar 1;129(3):1061-1075. doi: 10.1172/JCI99296. Epub 2019 Feb 4.
6 Brain microvascular endothelial cells exhibit lower activation of the alternative complement pathway than glomerular microvascular endothelial cells.J Biol Chem. 2018 May 11;293(19):7195-7208. doi: 10.1074/jbc.RA118.002639. Epub 2018 Mar 19.
7 Ravulizumab: First Global Approval.Drugs. 2019 Feb;79(3):347-352. doi: 10.1007/s40265-019-01068-2.
8 Atypical hemolytic uremic syndrome: a syndrome in need of clarity.Clin Kidney J. 2018 Jul 31;12(3):338-347. doi: 10.1093/ckj/sfy066. eCollection 2019 Jun.
9 Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.Clin Genet. 2018 Oct;94(3-4):330-338. doi: 10.1111/cge.13392. Epub 2018 Jul 10.
10 Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med. 2009 Jul 23;361(4):345-57. doi: 10.1056/NEJMoa0810739.
11 A 'silent', new polymorphism of factor H and apparent de novo atypical haemolytic uraemic syndrome after kidney transplantation.BMJ Case Rep. 2014 Dec 23;2014:bcr2014207630. doi: 10.1136/bcr-2014-207630.
12 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
13 Phenotypic expansion of DGKE-associated diseases.J Am Soc Nephrol. 2014 Jul;25(7):1408-14. doi: 10.1681/ASN.2013080886. Epub 2014 Feb 7.
14 Atypical hemolytic-uremic syndrome: recurrent phenotypic expression of a patient with MCP gene mutation combined with risk haplotypes.Blood Coagul Fibrinolysis. 2019 Mar;30(2):68-70. doi: 10.1097/MBC.0000000000000793.
15 Complement factor Hrelated 3 overexpression affects hepatocellular carcinoma proliferation and apoptosis.Mol Med Rep. 2019 Sep;20(3):2694-2702. doi: 10.3892/mmr.2019.10514. Epub 2019 Jul 23.
16 Hemolytic Uremic Syndrome in an Infant with Primary Hyperoxaluria Type II: An Unreported Clinical Association.Nephron. 2019;142(3):264-270. doi: 10.1159/000497823. Epub 2019 Mar 19.
17 Complement factor H related proteins (CFHRs). Mol Immunol. 2013 Dec 15;56(3):170-80. doi: 10.1016/j.molimm.2013.06.001. Epub 2013 Jul 3.
18 Modified Ham test for atypical hemolytic uremic syndrome.Blood. 2015 Jun 4;125(23):3637-46. doi: 10.1182/blood-2015-02-629683. Epub 2015 Apr 10.
19 Recurrent atypical haemolytic uraemic syndrome post kidney transplant due to a CD46 mutation in the setting of SMARCAL1-mediated inherited kidney disease.Nephrology (Carlton). 2017 Feb;22 Suppl 1:11-14. doi: 10.1111/nep.12933.