Details of Disease

General Information of Disease (ID: DIS5W0HW)

Disease Name Atypical hemolytic-uremic syndrome with I factor anomaly
Synonyms
aHUS3; susceptibility to atypical hemolytic uremic syndrome 3; AHUS3; aHUS, susceptibility to, 3; hemolytic uremic syndrome, atypical, susceptibility to, 3; D-HUS with I factor anomaly; aHUS with I factor anomaly; hemolytic-uremic syndrome without diarrhoea with I factor anomaly; hemolytic uremic syndrome, atypical, susceptibility to, type 3; atypical HUS with I factor anomaly; hemolytic-uremic syndrome without diarrhea with I factor anomaly
Disease Hierarchy
DISVHQI0: Atypical hemolytic uremic syndrome with complement gene abnormality
DIS5W0HW: Atypical hemolytic-uremic syndrome with I factor anomaly
Disease Identifiers
MONDO ID
MONDO_0013041
UMLS CUI
C2752039
OMIM ID
612923
MedGen ID
414542

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CFI TT6ATLX Strong Autosomal dominant [1]
CFI TT6ATLX Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CFI OTQYYX0P Strong Autosomal dominant [1]
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References

1 Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2005 Jul;16(7):2150-5. doi: 10.1681/ASN.2005010103. Epub 2005 May 25.
2 Reclassification of membranoproliferative glomerulonephritis: Identification of a new GN: C3GN.World J Nephrol. 2016 Jul 6;5(4):308-20. doi: 10.5527/wjn.v5.i4.308.