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Atypical hemolytic uremic syndrome with thrombomodulin anomaly
1 OMIM reference -
1 associated gene
5 connected diseases
No signs/symptoms info
Disease Type of connection
Familial thrombomodulin anomalies
Cerebral sinovenous thrombosis
Congenital factor II deficiency
Hereditary thrombophilia due to congenital protein C deficiency
Congenital plasminogen activator inhibitor type 1 deficiency
Synonym(s):
- Atypical HUS with thrombomodulin anomaly
- D-HUS with thrombomodulin anomaly
- Hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly
- aHUS with thrombomodulin anomaly
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
THBD P07204188040
No signs/symptoms info available.