Details of Disease

General Information of Disease (ID: DIS5NG8S)

• Disease Name: Hemolytic uremic syndrome, atypical, susceptibility to, 1
• Synonyms: hemolytic uremic syndrome, typical; Ahus, susceptibility to, 1; susceptibility to atypical hemolytic uremic syndrome 1; AHUS1; hemolytic uremic syndrome, atypical, susceptibility to, 1; hemolytic uremic syndrome, atypical, susceptibility to; hemolytic uremic syndrome, atypical, susceptibility to, type 1
• Disease Hierarchy:
  DIS98MYE: Inherited disease susceptibility
  DIS5NG8S: Hemolytic uremic syndrome, atypical, susceptibility to, 1
• Disease Identifiers:
  MONDO ID: MONDO_0009335
  UMLS CUI: C2749604
  OMIM ID: 235400
  MedGen ID: 412743

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CFH	TTUW6OP	Strong	Autosomal dominant	[1]
CFH	TTUW6OP	Strong	Biomarker	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CFHR1	OT72R16T	Limited	Unknown	[3]
CFHR3	OTYL8SDO	Limited	Unknown	[4]
CFH	OTAGKQTJ	Strong	Autosomal dominant	[1]

References

• [1] Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood. 2006 Aug 15;108(4):1267-79. doi: 10.1182/blood-2005-10-007252. Epub 2006 Apr 18.
• [2] Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.Mol Immunol. 2016 Mar;71:10-22. doi: 10.1016/j.molimm.2016.01.003. Epub 2016 Jan 27.
• [3] Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome. Blood. 2009 Nov 5;114(19):4261-71. doi: 10.1182/blood-2009-05-223834. Epub 2009 Sep 10.
• [4] A hybrid CFHR3-1 gene causes familial C3 glomerulopathy. J Am Soc Nephrol. 2012 Jul;23(7):1155-60. doi: 10.1681/ASN.2012020166. Epub 2012 May 24.