Details of Disease

General Information of Disease (ID: DIS17ALE)

Disease Name Atypical hemolytic-uremic syndrome with DGKE deficiency
Synonyms
hemolytic-uremic syndrome without diarrhoea with DGKE deficiency; hemolytic-uremic syndrome without diarrhea with DGKE deficiency; atypical HUS with DGKE deficiency; aHUS with DGKE deficiency; D-HUS with DGKE deficiency
Disease Hierarchy
DIS6FUDJ: Atypical hemolytic uremic syndrome
DIS17ALE: Atypical hemolytic-uremic syndrome with DGKE deficiency
Disease Identifiers
MONDO ID
MONDO_0018159
UMLS CUI
C5679921
MedGen ID
1826167
Orphanet ID
357008
SNOMED CT ID
1269225005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DGKE OTWS86AS Supportive Autosomal recessive [1]
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References

1 Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet. 2013 May;45(5):531-6. doi: 10.1038/ng.2590. Epub 2013 Mar 31.