{"orpha":743,"name":"Severe hereditary thrombophilia due to congenital protein S deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal recessive thrombophilia due to congenital protein S deficiency"],"definition":"An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-743/","orphanet_url":"https://www.orpha.net/en/disease/detail/743","names":{"fr":{"name":"Thrombophilie héréditaire sévère due au déficit congénital en protéine S","synonyms":["Thrombophilie autosomique récessive due au déficit congénital en protéine S"],"definition":"Le déficit congénital en protéine S est un trouble héréditaire de coagulation caractérisé par le développement de thromboses veineuses à répétition en raison d'une diminution de la synthèse et/ou de l'activité de la protéine S."},"de":{"name":"Schwere hereditäre Thrombophilie durch kongenitalen Protein-S-Mangel","synonyms":["Thrombophilie durch kongenitalen Protein-S-Mangel, autosomal-rezessive"],"definition":"Der Kongenitale Protein S-Mangel ist eine erbliche Gerinnungsstörung mit rezidivierenden venösen Thrombosen als Folge verminderter Synthese und/oder Aktivität des Proteins S."},"es":{"name":"Trombofilia hereditaria grave por deficiencia congénita de proteína S","synonyms":["Trombofilia autosómica recesiva por deficiencia congénita de proteína S"],"definition":"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."},"it":{"name":"Trombofilia ereditaria da deficit congenito della proteina S"},"nl":{"name":"Ernstige erfelijke trombofilie door congenitale proteïne S-deficiëntie","synonyms":["Autosomaal recessieve trombofilie door congenitale proteïne S-deficiëntie"],"definition":"Een erfelijke coagulatiestoornis, gekenmerkt door recidiverende symptomen van veneuze trombose als gevolg van verminderde synthese en/of activiteit van proteïne S."},"pt":{"name":"Trombofilia hereditária grave devida a deficiência de proteína S","definition":"A deficiência congénita da proteína S é uma patologia hereditária da coagulação caracterizada por sintomas de trombose venosa recorrente devido a síntese e/ou atividade reduzidas dos níveis de proteína S."},"pl":{"name":"Dziedziczna małopłytkowość spowodowana wrodzonym niedoborem białka S","synonyms":["Autosomal recessive thrombophilia due to congenital protein S deficiency"]},"cs":{"name":"Vážná hereditární trombofilie způsobená vrozeným deficitem proteinu S","synonyms":["Autosomal recessive thrombophilia due to congenital protein S deficiency"]},"uk":{"name":"Тяжка спадкова тромбофілія внаслідок вродженого дефіциту S протеїну","synonyms":["Аутосомно-рецесивна тромбофілія внаслідок вродженого дефіциту протеїну S"],"definition":"An inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S."},"zh":{"name":"遗传性蛋白S缺乏所致严重遗传性血栓形成","synonyms":["先天性S蛋白缺陷所致常染色体隐性血栓形成倾向"]},"tr":{"name":"Doğumsal protein S eksikliğine bağlı ağır kalıtsal trombofili","synonyms":["Doğumsal protein S eksikliğine bağlı otozomal Çekinik trombofili"]}},"xrefs":[{"source":"OMIM","code":"612336","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614514","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":"1305244529"},{"source":"MONDO","code":"0019144","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19144","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2584611","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":"PROS1","name":"protein S","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17849042[PMID]_19466456[PMID]","hgnc":"9456","ensembl":"ENSG00000184500","omim":"176880","loci":["3q11.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"Pr Jenny GOUDEMAND[EXPERT]"},{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"Pr Jenny GOUDEMAND[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000979","label":"Purpura","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002625","label":"Deep venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001933","label":"Subcutaneous hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004418","label":"Thrombophlebitis","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:0004420","label":"Arterial thrombosis","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:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}