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thrombophilia due to protein S deficiency, autosomal dominant
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.
Uniprot Description A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Based on the plasma levels of total and free PROS1 as well as the serine protease-activated protein C cofactor activity, three types of THPH5 have been described: type I, characterized by reduced total and free PROS1 levels together with reduced anticoagulant activity; type III, in which only free PROS1 antigen and PROS1 activity levels are reduced; and the rare type II which is characterized by normal concentrations of both total and free PROS1 antigen, but low cofactor activity.
Mondo Term and Equivalent IDs
MONDO:0012868: thrombophilia due to protein S deficiency, autosomal dominant
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C567077
OMIM:612336
Orphanet:26349
UMLS:C3278211
MONDO:0012868
High level summary of knowledge for a disease, including descriptions and datasource references.