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Details
Link-It Detail - Disease - Protein S Deficiency
Debug Stats
  • ### Total Build Time: 97 ms 29.874 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 383 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 861 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1.402 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 4.082 KB
  • CONCEPT_RELATIONSHIPS gt=46 ms Completed: 46 ms rowSize= 10.226 KB
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 11.576 KB
  • CONCEPT_XREFS gt=16 ms Completed: 16 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Protein S Deficiency C0242666
DEFIC PROTEIN S
Definition (1)
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)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Thrombophilia C0398623
img Blood Coagulation Disorders C0005779
img Blood Protein Disorders C0005830
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Thrombophilia C0398623
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Blood Coagulation Disorders C0005779
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Blood Protein Disorders C0005830
Relationships (22)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 3
diso_​to_​diso : 11
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 16
entry_​version_​of : 1
is_​associated_​anatomic_​site_​of : 1
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
isa : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO76img Complication Aspects C1171258
DISO_to_DISO69img Complication Aspects C1171258
DISO_to_PHEN52img genetic aspects C0017399
DISO_to_PHEN34img genetic aspects C0017399
DISO_to_DISO29img Protein C Deficiency C0398625
DISO_to_DISO26img DEFIC PROTEIN C C0398625
DISO_to_DISO26img Venous Thrombosis C0042487
DISO_to_CHEM25img Protein S C0072393
DISO_to_CHEM23img Protein S C0072393
DISO_to_DISO23img Venous Thrombosis C0042487
DISO_to_ANAT22img In Blood C0005768
DISO_to_CHEM19img Blood Proteins C0005832
DISO_to_ANAT13img In Blood C0005768
DISO_to_DISO10img Thrombophilia C0398623
DISO_to_DISO10img Thrombosis C0040053
DISO_to_PHYS10img Mutation C0026882
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg HEMOLYMPHORETICULAR TISSUE C1512398
DISO_to_ANATis_associated_anatomic_site_ofimg Hematopoietic and Lymphatic System C1512394
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Hematopoietic and Lymphoid Cell C1512385
DISO_to_DISOentry_version_ofimg DEFIC PROTEIN S C0242666
DISO_to_DISOisaimg Hereditary protein S deficiency C2584611
DISO_to_DISOisaimg Thrombophilia due to acquired protein S deficiency C2586317
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanDPM18813dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
img OMIM, Score=1000, UMLKSK CUI: C0242666
HumanTFPI7035tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
img GENERIF, Score=1000, Pubmed Id: 16488980, UMLKSK CUI: C0242666
HumanPROS15627protein S (alpha)
img GENERIF, Score=756, Pubmed Id: 16363235, UMLKSK CUI: C0242666
img OMIM, Score=909, UMLKSK CUI: C0242666
img GENERIF, Score=1000, Pubmed Id: 16488980, UMLKSK CUI: C0242666
img GENERIF, Score=1000, Pubmed Id: 17849042, UMLKSK CUI: C0242666
img OMIM, Score=1000, UMLKSK CUI: C0242666
img GAD, Score=1000, Pubmed Id: 8584989, UMLKSK CUI: C0242666
img GENERIF, Score=923, Pubmed Id: 17157360, UMLKSK CUI: C0242666
img GENERIF, Score=717, Pubmed Id: 17938802, UMLKSK CUI: C0242666
img GENERIF, Score=1000, Pubmed Id: 15893367, UMLKSK CUI: C0242666
HumanMTHFR4524methylenetetrahydrofolate reductase (NAD(P)H)
img GAD, Score=1000, Pubmed Id: 14723717, UMLKSK CUI: C0242666
HumanF52153coagulation factor V (proaccelerin, labile factor)
img GENERIF, Score=1000, Pubmed Id: 15978097, UMLKSK CUI: C0242666
img GENERIF, Score=1000, Pubmed Id: 17641719, UMLKSK CUI: C0242666
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0242666Protein S Deficiency0self