Details of Disease

General Information of Disease (ID: DISKM417)

Disease Name Atypical hemolytic-uremic syndrome with C3 anomaly
Synonyms
Ahus, susceptibility to, 5; susceptibility to atypical hemolytic uremic syndrome 5; hemolytic uremic syndrome, atypical, susceptibility to, 5; AHUS5; hemolytic-uremic syndrome without diarrhoea with C3 anomaly; aHUS with C3 anomaly; hemolytic-uremic syndrome without diarrhea with C3 anomaly; D-HUS with C3 anomaly; hemolytic uremic syndrome, atypical, susceptibility to, type 5; atypical HUS with C3 anomaly
Disease Hierarchy
DISVHQI0: Atypical hemolytic uremic syndrome with complement gene abnormality
DISKM417: Atypical hemolytic-uremic syndrome with C3 anomaly
Disease Identifiers
MONDO ID
MONDO_0013043
UMLS CUI
C2752037
OMIM ID
612925
MedGen ID
442875

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
C3 TTJGY7A Strong Biomarker [1]
C3 TTJGY7A Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
C3 OTCH5GS0 Definitive Autosomal dominant [2]
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References

1 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.
2 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.