Details of Disease

General Information of Disease (ID: DISJ0S64)

Disease Name Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Synonyms
AHUS2; aHUS2; hemolytic uremic syndrome, atypical, susceptibility to, 2; AHUS, susceptibility to, 2; susceptibility to atypical hemolytic uremic syndrome 2; hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly; hemolytic-uremic syndrome without diarrhoea with MCP/CD46 anomaly; D-HUS with MCP/CD46 anomaly; hemolytic uremic syndrome, atypical, susceptibility to, type 2; aHUS with MCP/CD46 anomaly; atypical HUS with MCP/CD46 anomaly
Disease Hierarchy
DISVHQI0: Atypical hemolytic uremic syndrome with complement gene abnormality
DISJ0S64: Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Disease Identifiers
MONDO ID
MONDO_0013040
UMLS CUI
C2752040
OMIM ID
612922
MedGen ID
414167

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
CD46 TTMS7DF Strong Biomarker [1]
CD46 TTMS7DF Definitive Semidominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CD46 OTQ8NWJD Definitive Semidominant [2]
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References

1 Atypical hemolytic uremic syndrome. Orphanet J Rare Dis. 2011 Sep 8;6:60. doi: 10.1186/1750-1172-6-60.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.