{"orpha":275555,"name":"Preeclampsia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-275555/","orphanet_url":"https://www.orpha.net/en/disease/detail/275555","names":{"fr":{"name":"Pré-éclampsie","synonyms":["Toxémie gravidique"],"definition":"Trouble hypertensif lié à la grossesse caractérisé par une hypertension d'apparition récente avec protéinurie se manifestant après 20&nbsp;semaines de grossesse et qui, selon qu'il s'agit d'une forme légère ou sévère, peut initialement se manifester par des céphalées sévères, des troubles de la vue et une hyperréflexie."},"de":{"name":"Präeklampsie","synonyms":["Schwangerschaftstoxikose"],"definition":"Eine schwangerschaftsbedingte Bluthochdruckerkrankung, die durch eine neu auftretende Hypertonie mit Proteinurie gekennzeichnet ist, die nach der 20. Schwangerschaftswoche auftritt und je nach leichter oder schwerer Ausprägung zunächst mit starken Kopfschmerzen, Sehstörungen und Hyperreflexie einhergehen kann."},"es":{"name":"Preeclampsia","definition":"Es un trastorno hipertensivo del embarazo caracterizado por hipertensión de nueva aparición con proteinuria que se presenta después de las 20 semanas de gestación y que, dependiendo de si se trata de una forma leve o grave, puede presentarse inicialmente con cefalea intensa, trastornos visuales e hiperreflexia."},"it":{"name":"Pre-eclampsia"},"nl":{"name":"Pre-eclampsie","synonyms":["Zwangerschapsvergiftiging"],"definition":"Een hypertensieve aandoening bij zwangerschap, gekarakteriseerd door nieuw optredende hypertensie met proteïnurie die zich presenteert na 20 weken zwangerschap, en zich, afhankelijk van milde of ernstige vormen, initieel kan manifesteren met ernstige hoofdpijn, visuele stoornissen, en hyperreflexie."},"pt":{"name":"Pré-eclâmpsia"},"pl":{"name":"Stan przedrzucawkowy"},"cs":{"name":"Preeklampsie"},"uk":{"name":"Прееклампсія","definition":"A hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia."},"zh":{"name":"先兆子痫","definition":"先兆子痫是一种妊娠高血压疾病，其特征是妊娠20周后出现蛋白尿的新发高血压，根据其轻微或严重的形式，最初可能出现严重的头痛、视力障碍和反射亢进。"},"tr":{"name":"Preeklampsi"}},"xrefs":[{"source":"OMIM","code":"189800","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"609402","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609403","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609404","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614595","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"O14.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"O14.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"O14.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"O14.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"JA24","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"229121159"},{"source":"ICD-11","code":"JA24.0","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"2044260215"},{"source":"ICD-11","code":"JA24.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"479404771"},{"source":"MONDO","code":"0005081","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011225","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0032914","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036485","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":96344,"name":"Rare gynecologic or obstetric disease"},"parents":[{"orpha":163637,"name":"Rare disorder related with pregnancy, childbirth and puerperium","classifications":[205]}],"children":[],"genes":[{"symbol":"CORIN","name":"corin, serine peptidase","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22437503[PMID]","hgnc":"19012","ensembl":"ENSG00000145244","omim":"605236","loci":["4p12"]},{"symbol":"FLT1","name":"fms related receptor tyrosine kinase 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"28628106[PMID]","hgnc":"3763","ensembl":"ENSG00000102755","omim":"165070","loci":["13q12.3"]},{"symbol":"STOX1","name":"storkhead box 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"21490791[PMID]","hgnc":"23508","ensembl":"ENSG00000165730","omim":"609397","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":45.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2011[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-10-22","source":"31590294[PMID]_31487641[PMID]_26693822[PMID]_27094609[PMID]_29037542[PMID]_34033373[PMID]","terms":[{"hpo":"HP:0100767","label":"Abnormality of the placenta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005117","label":"Elevated diastolic blood pressure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004421","label":"Elevated systolic blood pressure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410019","label":"Epigastric pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100598","label":"Pulmonary edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006707","label":"Abnormality of the hepatic vasculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031418","label":"Increased body mass index","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005202","label":"Helicobacter pylori infection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Very rare (<4-1%)","criteria":null}]}}