Details of Disease

General Information of Disease (ID: DIS8TF4K)

Disease Name Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Synonyms
AHUS6; hemolytic uremic syndrome, atypical, susceptibility to, 6; Ahus, susceptibility to, 6; susceptibility to atypical hemolytic uremic syndrome 6; hemolytic-uremic syndrome without diarrhoea with thrombomodulin anomaly; D-HUS with thrombomodulin anomaly; hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly; atypical HUS with thrombomodulin anomaly; aHUS with thrombomodulin anomaly; hemolytic uremic syndrome, atypical, susceptibility to, type 6
Disease Hierarchy
DISVHQI0: Atypical hemolytic uremic syndrome with complement gene abnormality
DIS8TF4K: Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Disease Identifiers
MONDO ID
MONDO_0013044
UMLS CUI
C2752036
OMIM ID
612926
MedGen ID
414541

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
THBD TTAPV67 Strong Autosomal dominant [1]
THBD TTAPV67 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
THBD OT8VHLKY Strong Autosomal dominant [1]
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References

1 Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med. 2009 Jul 23;361(4):345-57. doi: 10.1056/NEJMoa0810739.
2 Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.Clin J Am Soc Nephrol. 2013 Apr;8(4):554-62. doi: 10.2215/CJN.04760512. Epub 2013 Jan 10.