{"Name":"Hereditary thrombophilia due to congenital protein C deficiency","DiseaseID__c":"GARD:0016544","id":16544,"encodedName":"hereditary-thrombophilia-due-to-congenital-protein-c-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Hereditary thrombophilia due to congenital protein C deficiency","Xref_IDs__c":"76407009; C0598221; C535424; C99025; D020151; DOID:3756; MEDGEN:671121; MONDO:0019145; ORPHA:745","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019145","Disease_Description__c":"A rare inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.","GARD_Name__c":"Hereditary thrombophilia due to congenital protein C deficiency","GARD_Synonym__c":"autosomal recessive thrombophilia due to congenital protein c deficiency; autosomal recessive thrombophilia due to pc deficiency; hereditary protein c deficiency; hereditary thrombophilia due to pc deficiency; protein c deficiency; protein c deficiency disease; severe hereditary thrombophilia due to congenital protein c deficiency","Curated_Disease_Description_Source__c":"ORPHA:745","Curated_Disease_Description__c":"Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe. Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from the surface of the skin. A DVT can travel through the bloodstream and lodge in the lungs, causing a life-threatening blockage of blood flow known as a pulmonary embolism (PE). While most people with mild protein C deficiency never develop abnormal blood clots, certain factors can add to the risk of their development. These factors include increased age, surgery, inactivity, or pregnancy. Having another inherited disorder of blood clotting in addition to protein C deficiency can also influence the risk of abnormal blood clotting. In severe cases of protein C deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Purpura fulminans is characterized by the formation of blood clots in the small blood vessels throughout the body. These blood clots block normal blood flow and can lead to localized death of body tissue (necrosis). Widespread blood clotting uses up all available blood clotting proteins. As a result, abnormal bleeding occurs in various parts of the body, which can cause large, purple patches on the skin. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:745","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019145","ORPHANET_ID__c":"ORPHA:745","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombofilia hereditaria grave por deficiencia congénita de proteína c","Spanish_Description_Source__c":"ORPHA:745","Spanish_Description__c":"El déficit congénito de proteína C es un trastorno hereditario de la coagulación debido a una reducción del nivel de síntesis y/o actividad de la proteína C y caracterizado por síntomas profundos de trombosis venosas. La prevalencia del déficit grave de proteína C.","Spanish_Disease_Name__c":"trombofilia hereditaria grave por deficiencia congénita de proteína c","Spanish_GARD_Synonym__c":"trombofilia autosómica recesiva por deficiencia congénita de proteína c; trombofilia autosómica recesiva por deficiencia de pc","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":"Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe. Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from the surface of the skin. A DVT can travel through the bloodstream and lodge in the lungs, causing a life-threatening blockage of blood flow known as a pulmonary embolism (PE). While most people with mild protein C deficiency never develop abnormal blood clots, certain factors can add to the risk of their development. These factors include increased age, surgery, inactivity, or pregnancy. Having another inherited disorder of blood clotting in addition to protein C deficiency can also influence the risk of abnormal blood clotting. In severe cases of protein C deficiency, infants develop a life-threatening blood clotting disorder called purpura fulminans soon after birth. Purpura fulminans is characterized by the formation of blood clots in the small blood vessels throughout the body. These blood clots block normal blood flow and can lead to localized death of body tissue (necrosis). Widespread blood clotting uses up all available blood clotting proteins. As a result, abnormal bleeding occurs in various parts of the body, which can cause large, purple patches on the skin. Individuals who survive the newborn period may experience recurrent episodes of purpura fulminans.","Curated_Disease_Description_Source__c":"ORPHA:745","GARD_Synonym__c":"autosomal recessive thrombophilia due to congenital protein c deficiency; autosomal recessive thrombophilia due to pc deficiency; hereditary protein c deficiency; hereditary thrombophilia due to pc deficiency; protein c deficiency; protein c deficiency disease; severe hereditary thrombophilia due to congenital protein c deficiency","Name":"Hereditary thrombophilia due to congenital protein C deficiency","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"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":"Neonatal","Provided_By__c":"ORPHA:745"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/745","Source__c":"C0598221; MONDO:0019145; ORPHA:745","Xref__c":"ORPHA:745"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=76407009","Source__c":"MONDO:0019145","Xref__c":"76407009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3756","Source__c":"MONDO:0019145","Xref__c":"DOID:3756"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535424","Source__c":"MONDO:0019145","Xref__c":"C535424"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C99025","Source__c":"MONDO:0019145","Xref__c":"C99025"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0598221","Source__c":"C0598221","Xref__c":"C0598221"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=671121","Source__c":"C0598221","Xref__c":"MEDGEN:671121"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020151","Source__c":"MONDO:0019145","Xref__c":"D020151"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019145","Source__c":"GARD:0016544","Xref__c":"MONDO:0019145"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=439274008","Source__c":"C0598221","Xref__c":"439274008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PROC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/proc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:745","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:745","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001038","HPO_Name__c":"Warfarin-induced skin necrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:745","HPO_Frequency__c":"Frequent (30-79%)","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:745","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:745","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:745","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:745","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:745","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:745","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"}},{"Provided_By__c":"ORPHA:745","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004936","HPO_Synonym__c":"Blood clot in vein","HPO_Name__c":"Venous thrombosis","Feature_System__c":"Blood and Blood-Forming Tissue","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 c deficiency"," autosomal recessive thrombophilia due to pc deficiency"," hereditary protein c deficiency"," hereditary thrombophilia due to pc deficiency"," protein c deficiency"," protein c deficiency disease"," severe hereditary thrombophilia due to congenital protein c deficiency"]}