Details of Disease

General Information of Disease (ID: DISZ9IGZ)

Disease Name Atypical hemolytic-uremic syndrome with B factor anomaly
Synonyms
aHUS, susceptibility to, 4; AHUS4; aHUS4; susceptibility to atypical hemolytic uremic syndrome 4; hemolytic uremic syndrome, atypical, susceptibility to, 4; hemolytic-uremic syndrome without diarrhoea with B factor anomaly; aHUS with B factor anomaly; hemolytic uremic syndrome, atypical, susceptibility to, type 4; D-HUS with B factor anomaly; hemolytic-uremic syndrome without diarrhea with B factor anomaly; atypical HUS with B factor anomaly
Disease Hierarchy
DISVHQI0: Atypical hemolytic uremic syndrome with complement gene abnormality
DISZ9IGZ: Atypical hemolytic-uremic syndrome with B factor anomaly
Disease Identifiers
MONDO ID
MONDO_0013042
UMLS CUI
C2752038
OMIM ID
612924
MedGen ID
416691

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
CFB TT3SGK7 Strong Autosomal dominant [1]
CFB TTA0P7K 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
CFB OTZITNEJ Strong Autosomal dominant [1]
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References

1 Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci U S A. 2007 Jan 2;104(1):240-5. doi: 10.1073/pnas.0603420103. Epub 2006 Dec 20.
2 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.