{"Name":"Hereditary thrombophilia due to congenital protein S deficiency","DiseaseID__c":"GARD:0016543","id":16543,"encodedName":"hereditary-thrombophilia-due-to-congenital-protein-s-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hereditary thrombophilia due to congenital protein S deficiency","Xref_IDs__c":"C2584611; DOID:0111905; MEDGEN:748876; MONDO:0019144; ORPHA:743","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019144","Disease_Description__c":"An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.","GARD_Name__c":"Hereditary thrombophilia due to congenital protein S deficiency","GARD_Synonym__c":"autosomal recessive thrombophilia due to congenital protein s deficiency; hereditary protein s deficiency; severe hereditary thrombophilia due to congenital protein s deficiency","Curated_Disease_Description_Source__c":"MONDO:0019144","Curated_Disease_Description__c":"An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:743","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019144","ORPHANET_ID__c":"ORPHA:743","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombofilia hereditaria grave por deficiencia congénita de proteína s","Spanish_Description_Source__c":"ORPHA:743","Spanish_Description__c":"Es un trastorno hereditario de la coagulación, debido a una reducción del nivel de síntesis y/o actividad de la proteína S, y caracterizado por el desarrollo de síntomas de trombosis venosa recurrente.","Spanish_Disease_Name__c":"trombofilia hereditaria grave por deficiencia congénita de proteína s","Spanish_GARD_Synonym__c":"trombofilia autosómica recesiva por deficiencia congénita de proteína s","Category_Linearization__c":"ORPHA:97992","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.","Curated_Disease_Description_Source__c":"MONDO:0019144","GARD_Synonym__c":"autosomal recessive thrombophilia due to congenital protein s deficiency; hereditary protein s deficiency; severe hereditary thrombophilia due to congenital protein s deficiency","Name":"Hereditary thrombophilia due to congenital protein S deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Blood Clot Alliance","Website__c":"https://www.stoptheclot.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:743"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:743"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2584611","Source__c":"C2584611","Xref__c":"C2584611"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=748876","Source__c":"C2584611","Xref__c":"MEDGEN:748876"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111905","Source__c":"MONDO:0019144","Xref__c":"DOID:0111905"},{"URL__c":"https://www.orpha.net/en/disease/detail/743","Source__c":"C2584611; MONDO:0019144; ORPHA:743","Xref__c":"ORPHA:743"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019144","Source__c":"GARD:0016543","Xref__c":"MONDO:0019144"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=439702007","Source__c":"C2584611","Xref__c":"439702007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PROS1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pros1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001933","HPO_Synonym__c":"Bleeding below the skin","HPO_Name__c":"Subcutaneous hemorrhage","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000488","HPO_Synonym__c":"Noninflammatory retina disease","HPO_Name__c":"Retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004418","HPO_Name__c":"Thrombophlebitis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100758","HPO_Synonym__c":"Death of body tissue due to lack of blood flow or infection","HPO_Name__c":"Gangrene","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The formation of a blood clot inside an artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004420","HPO_Synonym__c":"Blood clot in artery","HPO_Name__c":"Arterial thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008065","HPO_Synonym__c":"Absent/small skin; Absent/underdeveloped skin","HPO_Name__c":"Aplasia/Hypoplasia of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the cerebral blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100659","HPO_Synonym__c":"Abnormality of the cerebral blood vessels; Abnormality of the cerebral vasculature","HPO_Name__c":"Abnormal cerebral vascular morphology","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002204","HPO_Synonym__c":"Blood clot in artery of lung","HPO_Name__c":"Pulmonary embolism","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000963","HPO_Synonym__c":"Thin skin","HPO_Name__c":"Thin skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002625","HPO_Synonym__c":"Blood clot in a deep vein; Deep vein thrombosis; Multiple deep venous thrombosis","HPO_Name__c":"Deep venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005293","HPO_Synonym__c":"Poorly functioning veins","HPO_Name__c":"Venous insufficiency","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000979","HPO_Synonym__c":"Red or purple spots on the skin","HPO_Name__c":"Purpura","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:743","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the pigmentation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001000","HPO_Synonym__c":"Abnormal pigmentation; Abnormal skin color; Abnormal skin pigmentation; Abnormality of pigmentation; Abnormality of skin pigmentation; Pigmentary changes; Pigmentary skin changes; Pigmentation anomaly","HPO_Name__c":"Abnormality of skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Rheumatology","Hematology","Orthopedics","Pediatrics"]},"synonyms":["autosomal recessive thrombophilia due to congenital protein s deficiency"," hereditary protein s deficiency"," severe hereditary thrombophilia due to congenital protein s deficiency"]}