{"orpha":745,"name":"Severe hereditary thrombophilia due to congenital protein C deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive thrombophilia due to PC deficiency","Autosomal recessive thrombophilia due to congenital protein C deficiency"],"definition":"A rare inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-745/","orphanet_url":"https://www.orpha.net/en/disease/detail/745","names":{"fr":{"name":"Thrombophilie héréditaire sévère due au déficit congénital en protéine C","synonyms":["Thrombophilie autosomique récessive due au déficit congénital en protéine C","Thrombophilie autosimique récessive par déficit en PC"],"definition":"Le déficit congénital en protéine C est un trouble héréditaire de coagulation associé à un risque accru de thromboses veineuses en raison d'une synthèse réduite et/ou d'une baisse d'activité de la protéine C."},"de":{"name":"Schwere hereditäre Thrombophilie durch kongenitalen Protein-C-Mangel","synonyms":["Hereditäre Thrombophilie durch PC-Mangel","Thrombophilie durch PC-Mangel, autosomal-rezessive","Thrombophilie durch kongenitalen Protein C-Mangel, autosomal-rezessive"],"definition":"Der Kongenitale Protein C-Mangel ist eine erbliche Gerinnungsstörung mit tiefen venösen Thrombosen als Folge verminderter Synthese und/oder Aktivität des Proteins C."},"es":{"name":"Trombofilia hereditaria grave por deficiencia congénita de proteína C","synonyms":["Trombofilia autosómica recesiva por deficiencia congénita de proteína C","Trombofilia autosómica recesiva por deficiencia de PC"],"definition":"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."},"it":{"name":"Trombofilia ereditaria da deficit congenito della proteina C","synonyms":["Trombofilia ereditaria da deficit di PC"]},"nl":{"name":"Ernstige erfelijke trombofilie als gevolg van congenitale proteïne C-deficiëntie","synonyms":["Autosomaal recessieve trombofilie als gevolg van PC-deficiëntie","Autosomaal recessieve trombofilie als gevolg van congenitale proteïne C-deficiëntie"],"definition":"Congenitale deficiëntie van proteïne C is een erfelijke coagulatiestoornis, gekenmerkt door symptomen van diepe veneuze trombose als gevolg van verminderde synthese en/of activiteit van proteïne C."},"pt":{"name":"Trombofilia hereditária grave por deficiência de proteína C congénita","synonyms":["Trombofilia autossómica recessiva por deficiência de PC","Trombofilia autossómica recessiva por deficiência de proteína C congénita"],"definition":"A deficiência congénita da proteína C é uma patologia da coagulação hereditária caracterizada por sintomas de trombose venosa profunda devido a síntese e/ou atividade reduzida dos níveis de proteína C."},"pl":{"name":"Dziedziczna trombofilia z powodu wrodzonego niedoboru białka C","synonyms":["Dziedziczna trombofilia z powodu niedoboru PC"]},"cs":{"name":"Hereditární trombofilie způsobená vrozeným nedostatkem proteinu C","synonyms":["Hereditární trombofilie způsobená nedostatkem PC"]},"uk":{"name":"Тяжка спадкова тромбофілія внаслідок вродженого дефіциту протеїну С","synonyms":["Аутосомно-рецесивна тромбофілія внаслідок вродженого дефіциту протеїну С","Аутосомно-рецесивна тромбофілія, зумовлена дефіцитом PC"],"definition":"A rare inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C."},"zh":{"name":"遗传性蛋白C缺乏所致严重遗传性血栓症","synonyms":["原发性C缺乏所致常染色体隐性遗传血栓形成倾向"]},"tr":{"name":"Doğumsal protein C eksikliğine bağlı ağır kalıtsal trombofili","synonyms":["PC eksikliğine bağlı otozomal Çekinik trombofili","Doğumsal protein C eksikliğine bağlı otozomal Çekinik trombofili"]}},"xrefs":[{"source":"OMIM","code":"176860","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612304","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B61.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2021932081"},{"source":"MONDO","code":"0019145","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19145","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0598221","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":217454,"name":"Rare hereditary thrombophilia","classifications":[156,194,196,199]}],"children":[],"genes":[{"symbol":"PROC","name":"protein C, inactivator of coagulation factors Va and VIIIa","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23521084[PMID]","hgnc":"9451","ensembl":"ENSG00000115718","omim":"612283","loci":["2q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Worldwide","status":"Validated","source":"16689776[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001038","label":"Warfarin-induced skin necrosis","frequency":"Occasional (29-5%)","criteria":null}]}}