{"orpha":80,"name":"Antiphospholipid syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["APLS","Antiphospholipid antibody syndrome","Classic APLS","Classic antiphospholipid syndrome","Hughes syndrome"],"definition":"A rare systemic autoimmune disease characterized by hypercoagulability with vascular thrombosis and, in women, pregnancy morbidity (miscarriages, severe pre-eclampsia, placental insufficiency) in the presence of serum antiphospholipid antibodies, such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-80/","orphanet_url":"https://www.orpha.net/en/disease/detail/80","names":{"fr":{"name":"Syndrome des antiphospholipides","synonyms":["SAPL","SAPL classique","Syndrome de Hughes","Syndrome des anticorps antiphospholipides","Syndrome des antiphospholipides classique"],"definition":"Maladie systémique auto-immune rare caractérisée par une hypercoagulabilité avec thrombose vasculaire et, chez la femme, une morbidité en cas de grossesse (fausses-couches, prééclampsie sévère, insuffisance placentaire), en présence d'anticorps antiphospholipides sériques, tels que les anticoagulants lupiques, les anticorps anticardiolipine et les anticorps anti-bêta2-glycoprotéine 1."},"de":{"name":"Anti-Phospholipid-Syndrom","synonyms":["APLS","APLS, klassisch","Anti-Phospholipid-Antikörper-Syndrom","Hughes-Syndrom","Klassisches Anti-Phospholipid-Syndrom","Lupus-Antikoagulans, familiäre"],"definition":"Eine seltene systemische Autoimmunerkrankung, die durch Hyperkoagulabilität mit Gefäßthrombose und bei Frauen durch Schwangerschaftsmorbidität (Fehlgeburten, schwere Präeklampsie, Plazentainsuffizienz) bei Vorhandensein von Serum-Antiphospholipid-Antikörpern wie Lupus-Antikoagulans, Anticardiolipin-Antikörpern und Anti-Beta2-Glycoprotein-1-Antikörpern gekennzeichnet ist."},"es":{"name":"Síndrome antifosfolípido","synonyms":["SAFL","SAFL clásico","Síndrome antifosfolípido clásico","Síndrome de Hughes","Síndrome de anticuerpos antifosfolípidos"],"definition":"Es una enfermedad autoinmune sistémica poco frecuente caracterizada por hipercoagulabilidad con trombosis vascular y, en mujeres, morbilidad del embarazo (abortos espontáneos, preeclampsia grave, insuficiencia placentaria) en presencia de anticuerpos antifosfolipídicos, como el anticoagulante lúpico, anticuerpos anticardiolipina y anticuerpos anti-beta2-glicoproteína 1."},"it":{"name":"Sindrome da antifosfolipidi","synonyms":["APLS","APLS classica","Sindrome classica da antifosfolipidi","Sindrome da anticorpi antifosfolipidi","Sindrome di Hughes"]},"nl":{"name":"Antifosfolipidensyndroom","synonyms":["Antifosfolipide antilichamen-syndroom","Klassiek APLS","Klassiek antifosfolipidensyndroom","Syndroom van Hughes"],"definition":"Een zeldzame systemische auto-immuunziekte, gekenmerkt door hypercoagulabiliteit met vasculaire trombose en bij vrouwen aan zwangerschap gerelateerde morbiditeit (miskraam, ernstige pre-eclampsie, placenta-insufficiëntie), in aanwezigheid van antifosfolipide-antilichamen in serum, zoals lupus-anticoagulans, anticardiolipine-antilichamen, en antilichamen tegen bèta2-glycoproteïne 1."},"pt":{"name":"Síndrome antifosfolipídico","synonyms":["APLS","APLS clássico","Síndrome Hughes","Síndrome do anticorpo anti-fosfolípido"],"definition":"Doença autoimune sistémica rara caracterizada por hipercoagulabilidade com trombose vascular e, em mulheres, morbilidade na gravidez (abortos espontâneos, pré&#8208;eclâmpsia grave, insuficiência placentária) na presença de anticorpos antifosfolipídicos séricos, como anticoagulante lúpico, anticorpos anticardiolipina e anticorpos anti-beta2-glicoproteína 1."},"pl":{"name":"Zespół antyfosfolipidowy","synonyms":["Zespół Hughesa"]},"cs":{"name":"Antifosfolipidový syndrom","synonyms":["APLS","Antiphospholipid antibody syndrome","Classic APLS","Classic antiphospholipid syndrome","Hughes syndrome"]},"uk":{"name":"Антифосфоліпідний синдром","synonyms":["Синдром антифосфоліпідних антитіл","APLS","Класичний антифосфоліпідний синдром","Класичний APLS","Синдром Хьюза"],"definition":"A rare systemic autoimmune disease characterized by hypercoagulability with vascular thrombosis and, in women, pregnancy morbidity (miscarriages, severe pre-eclampsia, placental insufficiency) in the presence of serum antiphospholipid antibodies, such as lupus anticoagulant, anticardiolipin antibodies, and anti-beta2-glycoprotein 1 antibodies."},"zh":{"name":"欧洲非罕见：抗磷脂综合征","synonyms":["抗磷脂抗体综合征"]},"tr":{"name":"AVRUPA'DA NADİR OLMAYAN: Antifosfolipid sendromu","synonyms":["APS","Hughes sendromu","Ailesel lupus antikoagülan","Antifosfolipid antikor sendromu"]}},"xrefs":[{"source":"ICD-10","code":"D68.6","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4A45","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1173370808"},{"source":"MONDO","code":"8000010","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016736","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085278","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5824","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10002817","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":163637,"name":"Rare disorder related with pregnancy, childbirth and puerperium","classifications":[205]},{"orpha":248365,"name":"Rare thrombotic disorder due to an acquired coagulation factors defect","classifications":[194]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":45.0,"area":"Worldwide","status":"Validated","source":"34985614[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-02-02","source":"36849186[PMID]_32413497[PMID]_31866276[PMID]_28613698[PMID]","terms":[{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032376","label":"Anti-beta 2 glycoprotein I antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034156","label":"Anti-beta-2-Glycoprotein I IgG antibody positivity","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0034157","label":"Anti-beta-2-Glycoprotein I IgM antibody positivity","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0020136","label":"Anticardiolipin IgG antibody positivity","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0020137","label":"Anticardiolipin IgM antibody positivity","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003613","label":"Antiphospholipid antibody positivity","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008222","label":"Female infertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100724","label":"Hypercoagulability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002140","label":"Ischemic stroke","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033260","label":"Livedo racemosa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033505","label":"Livedo reticularis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025343","label":"Lupus anticoagulant","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100602","label":"Preeclampsia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0034101","label":"Anti-annexin-V antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034097","label":"Anti-phosphatidyl choline antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034084","label":"Anti-phosphatidyl ethanolamine antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034098","label":"Anti-phosphatidyl glycerol antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034099","label":"Anti-phosphatidyl inositol antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0034100","label":"Anti-phosphatidyl serine antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001718","label":"Mitral stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025420","label":"Diffuse alveolar hemorrhage","frequency":"Very rare (<4-1%)","criteria":null}]}}