Details of Disease

General Information of Disease (ID: DISSCBGW)

• Disease Name: Hemolytic-uremic syndrome
• Synonyms: acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'); acute renal failure, thrombocytopenia, and microangiopathic hemolytic anaemia associated with distorted erythrocytes ('burr cells'); hemolytic uremic syndrome; haemolytic-uraemic syndrome; HUS
• Definition: Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia.
• Disease Hierarchy:
  DIS9X3H6: Coagulation defect
  DISSCBGW: Hemolytic-uremic syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0001549
  MESH ID: D006463
  UMLS CUI: C0019061
  MedGen ID: 42403
  HPO ID: HP:0005575
  Orphanet ID: 544458
  SNOMED CT ID: 111407006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 16 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
C3AR1	TTI6B3F	Limited	Biomarker	[1]
CDA	TTQ12RK	Limited	Genetic Variation	[2]
LIPG	TTHSZXO	Limited	Genetic Variation	[3]
FABP1	TTIV96N	Disputed	Biomarker	[4]
ALB	TTFNGC9	moderate	Biomarker	[5]
CFI	TT6ATLX	moderate	Genetic Variation	[6]
ADAMTS13	TTUREBK	Strong	Altered Expression	[7]
C3	TTJGY7A	Strong	Biomarker	[8]
CFB	TTA0P7K	Strong	Biomarker	[9]
EPO	TTQG4NR	Strong	Therapeutic	[10]
IL1A	TTPM6HI	Strong	Biomarker	[11]
NQO1	TT8XK6L	Strong	Biomarker	[12]
PCSK5	TTPFWHU	Strong	Biomarker	[13]
THBD	TTAPV67	Strong	Biomarker	[14]
VWF	TT3SZBT	Strong	Genetic Variation	[15]
MCHR2	TTS17MG	Definitive	Biomarker	[16]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A10	DTJYKDQ	Definitive	Altered Expression	[17]

This Disease Is Related to 19 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
A4GALT	OTPX3UGY	Limited	Altered Expression	[18]
CFHR5	OT7BMOYE	Limited	Genetic Variation	[19]
MATK	OTVOJJLJ	Limited	Genetic Variation	[20]
MMACHC	OTX0TT3W	Limited	Genetic Variation	[21]
NLE1	OT1BV82K	Limited	Biomarker	[22]
SUMF2	OT37I8JL	Limited	Biomarker	[23]
RAB7B	OT60A0E9	Disputed	Biomarker	[24]
CAPG	OTJ86KI6	Strong	Genetic Variation	[25]
CFHR1	OT72R16T	Strong	Genetic Variation	[26]
CFHR3	OTYL8SDO	Strong	Genetic Variation	[26]
DBR1	OTLTWLTE	Strong	Biomarker	[27]
DESI1	OTFNIW98	Strong	Biomarker	[28]
DGKE	OTWS86AS	Strong	Genetic Variation	[26]
GRHPR	OTLV63QV	Strong	Biomarker	[29]
SH3BP4	OTVIRKW7	Strong	Biomarker	[30]
SLC35G1	OTKZUA8O	Strong	Biomarker	[28]
STX1A	OTSBUZB4	Strong	Biomarker	[31]
TRIM25	OT35SG1R	Strong	CausalMutation	[32]
CLEC1B	OTO38TRG	Definitive	Altered Expression	[17]

References

• [1] Alternative pathway activation of complement by Shiga toxin promotes exuberant C3a formation that triggers microvascular thrombosis.J Immunol. 2011 Jul 1;187(1):172-80. doi: 10.4049/jimmunol.1100491. Epub 2011 Jun 3.
• [2] Structure and function of plasmid pColD157 of enterohemorrhagic Escherichia coli O157 and its distribution among strains from patients with diarrhea and hemolytic-uremic syndrome.J Clin Microbiol. 1998 Jan;36(1):24-9. doi: 10.1128/JCM.36.1.24-29.1998.
• [3] Association of genomic O island 122 of Escherichia coli EDL 933 with verocytotoxin-producing Escherichia coli seropathotypes that are linked to epidemic and/or serious disease.J Clin Microbiol. 2003 Nov;41(11):4930-40. doi: 10.1128/JCM.41.11.4930-4940.2003.
• [4] L-FABP and IL-6 as markers of chronic kidney damage in children after hemolytic uremic syndrome.Adv Clin Exp Med. 2018 Jul;27(7):955-962. doi: 10.17219/acem/70567.
• [5] Pathogenicity of cationized albumin in the dog: renal and extrarenal effects.Clin Sci (Lond). 1984 Jul;67(1):19-33. doi: 10.1042/cs0670019.
• [6] Eculizumab therapy in a child with hemolytic uremic syndrome and CFI mutation.Pediatr Nephrol. 2012 Dec;27(12):2327-31. doi: 10.1007/s00467-012-2283-9. Epub 2012 Aug 19.
• [7] Successful treatment of thrombotic microangiopathy associated with dengue infection: A case report and literature review.Transpl Infect Dis. 2018 Feb;20(1). doi: 10.1111/tid.12824. Epub 2018 Jan 19.
• [8] A Familial C3GN Secondary to Defective C3 Regulation by Complement Receptor 1 and Complement Factor H.J Am Soc Nephrol. 2016 Jun;27(6):1665-77. doi: 10.1681/ASN.2015040348. Epub 2015 Oct 15.
• [9] High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.J Am Soc Nephrol. 2016 Apr;27(4):1245-53. doi: 10.1681/ASN.2015040385. Epub 2015 Aug 17.
• [10] Erythropoietin is beneficial in mitomycin-induced hemolytic-uremic syndrome.Nephron. 2002 Jun;91(2):324-6. doi: 10.1159/000058411.
• [11] The role of circulating immune complexes and biocompatibility of staphylococcal protein A immunoadsorption in mitomycin C-induced hemolytic uremic syndrome.Am J Kidney Dis. 2004 Oct;44(4):e50-8.
• [12] NAD(P)H: quinone oxidoreductase 1 expression in kidney podocytes.J Histochem Cytochem. 2003 Mar;51(3):297-302. doi: 10.1177/002215540305100304.
• [13] Crosstalk between Human Microvascular Endothelial Cells and Tubular Epithelial Cells Modulates Pro-Inflammatory Responses Induced by Shiga Toxin Type 2 and Subtilase Cytotoxin.Toxins (Basel). 2019 Nov 7;11(11):648. doi: 10.3390/toxins11110648.
• [14] The efficacy of recombinant human soluble thrombomodulin for the treatment of shiga toxin-associated hemolytic uremic syndrome model mice.Nephrol Dial Transplant. 2015 Jun;30(6):969-77. doi: 10.1093/ndt/gfv004. Epub 2015 Feb 17.
• [15] Thrombotic microangiopathies: new insights and new challenges.Curr Opin Nephrol Hypertens. 2010 Jul;19(4):372-8. doi: 10.1097/MNH.0b013e32833aff4a.
• [16] Incomplete hemolytic-uremic syndrome in Argentinean children with bloody diarrhea.J Pediatr. 1995 Sep;127(3):364-7. doi: 10.1016/s0022-3476(95)70064-1.
• [17] Elevated plasma levels of soluble C-type lectin-like receptor 2 (CLEC2) in patients with thrombotic microangiopathy.Thromb Res. 2019 Jun;178:54-58. doi: 10.1016/j.thromres.2019.03.018. Epub 2019 Mar 28.
• [18] Identification and characterization of the human Gb3/CD77 synthase gene promoter.Glycobiology. 2008 Dec;18(12):1028-35. doi: 10.1093/glycob/cwn082. Epub 2008 Aug 29.
• [19] Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome.Mol Immunol. 2007 Mar;44(7):1704-8. doi: 10.1016/j.molimm.2006.08.004. Epub 2006 Sep 26.
• [20] Wild ungulates as disseminators of Shiga toxin-producing Escherichia coli in urban areas.PLoS One. 2013 Dec 11;8(12):e81512. doi: 10.1371/journal.pone.0081512. eCollection 2013.
• [21] Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency.Nephron. 2019;142(3):258-263. doi: 10.1159/000497822. Epub 2019 May 28.
• [22] Molecular analysis as an aid to assess the public health risk of non-O157 Shiga toxin-producing Escherichia coli strains.Appl Environ Microbiol. 2008 Apr;74(7):2153-60. doi: 10.1128/AEM.02566-07. Epub 2008 Feb 1.
• [23] Genomic comparisons and Shiga toxin production among Escherichia coli O157:H7 isolates from a day care center outbreak and sporadic cases in southeastern Wisconsin.J Clin Microbiol. 1998 Mar;36(3):727-33. doi: 10.1128/JCM.36.3.727-733.1998.
• [24] Rab7b participation on the TLR4 (Toll-like receptor) endocytic pathway in Shiga toxin-associated Hemolytic Uremic Syndrome (HUS).Cytokine. 2019 Sep;121:154732. doi: 10.1016/j.cyto.2019.05.019. Epub 2019 May 30.
• [25] Autoantibodies in haemolytic uraemic syndrome (HUS).Thromb Haemost. 2009 Feb;101(2):227-32.
• [26] Atypical presentation of atypical haemolytic uraemic syndrome.BMJ Case Rep. 2018 Feb 11;2018:bcr2017222560. doi: 10.1136/bcr-2017-222560.
• [27] Class II human leucocyte antigen DRB1*11 in hairy cell leukaemia patients with and without haemolytic uraemic syndrome.Br J Haematol. 2014 Sep;166(5):729-38. doi: 10.1111/bjh.12956. Epub 2014 Jun 13.
• [28] A post-partum hemolytic-uremic-like-syndrome in a patient with pre-eclampsia: description of a clinical case.Transfus Apher Sci. 2006 Feb;34(1):11-4. doi: 10.1016/j.transci.2005.09.007. Epub 2006 Jan 20.
• [29] 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.
• [30] Plasma sFas and sFas ligand levels in patients with thrombotic thrombocytopenic purpura and in those with disseminated intravascular coagulation.Am J Hematol. 1999 May;61(1):21-5. doi: 10.1002/(sici)1096-8652(199905)61:1<21::aid-ajh5>3.0.co;2-8.
• [31] Shiga Toxin Type 1a (Stx1a) Reduces the Toxicity of the More Potent Stx2a In Vivo and In Vitro.Infect Immun. 2019 Mar 25;87(4):e00787-18. doi: 10.1128/IAI.00787-18. Print 2019 Apr.
• [32] Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.Clin J Am Soc Nephrol. 2015 Jun 5;10(6):1011-9. doi: 10.2215/CJN.08520814. Epub 2015 Apr 8.