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ONTOLOGY REPORT - ANNOTATIONS


Term:protein S deficiency
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Accession:DOID:2451 term browser browse the term
Definition:An autosomal dominant disorder showing decreased levels of plasma protein S antigen or activity, associated with venous thrombosis and pulmonary embolism. PROTEIN S is a vitamin K-dependent plasma protein that inhibits blood clotting by serving as a cofactor for activated PROTEIN C (also a vitamin K-dependent protein), and the clinical manifestations of its deficiency are virtually identical to those of protein C deficiency. Treatment with heparin for acute thrombotic processes is usually followed by maintenance administration of coumarin drugs for the prevention of recurrent thrombosis. (From Harrison's Principles of Internal Medicine, 12th ed, p1511; Wintrobe's Clinical Hematology, 9th ed, p1523)
Synonyms:exact_synonym: Hereditary Thrombophilia Due To Protein S Deficiency;   Protein S Deficiencies;   Protein S deficiency disease
 primary_id: MESH:D018455
 alt_id: RDO:0007202
 xref: GARD:4524;   NCI:C99026
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protein S deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:1599209
RGD:8554872
RGD:11251679
RGD:11251677
RGD:11250419
RGD:11250418
RGD:11250415
RGD:1578677
G Tfpi tissue factor pathway inhibitor JBrowse link 3 71,852,738 71,902,127 RGD:11060129
RGD:11060140
Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:7240710
RGD:8554872
Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arl13b ADP-ribosylation factor like GTPase 13B JBrowse link 7 1,122,567 1,188,209 RGD:8554872
G Pros1 protein S JBrowse link 7 1,206,648 1,288,140 RGD:7240710
RGD:8554872
G Stx19 syntaxin 19 JBrowse link 7 1,145,002 1,149,978 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      hematopoietic system disease 1469
        blood protein disease 275
          protein S deficiency 4
            Acquired Protein S Deficiency 0
            Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Dominant 1
            Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Recessive 3
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      Hemic and Lymphatic Diseases 1748
        hematopoietic system disease 1469
          blood coagulation disease 504
            thrombophilia 37
              protein S deficiency 4
                Acquired Protein S Deficiency 0
                Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Dominant 1
                Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Recessive 3
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