{"orpha":1041,"name":"Hydrops fetalis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fetal anasarca","Fetal hydrops","Generalized fetal edema","HF"],"definition":"Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1041/","orphanet_url":"https://www.orpha.net/en/disease/detail/1041","names":{"fr":{"name":"Anasarque foetoplacentaire","synonyms":["Anasarque foetale","HF","Hydrops fetalis","Hydrops foeto-placentaire","Hydrops foetoplacentaire"],"definition":"L'anasarque foeto-placentaire est une maladie foetale sévère et difficile, généralement définie par une accumulation excessive de liquide amniotique dans le compartiment extra-vasculaire foetal et les cavités. Elle se manifeste par un oedème, un épanchement pleural et péricardique, et des ascites. Elle est présente dans la dernière phase d'une large variété de maladies. La cause peut être immunologique (anasarque foeto-placentaire immunologique, IHF) ou non immunologique (anasarque foeto-placentaire non immunologique, NIHF), selon la présence ou non d'anticorps maternels dirigés contre les antigènes des cellules sanguines foetales (incompatibilité ABO ou Rhésus (Rh))."},"de":{"name":"Hydrops fetalis","synonyms":["HF","Ödem, fetales generalisiertes"],"definition":"Der Hydrops fetalis ist eine schwere und medizinisch hohe Anforderungen stellende Erkrankung des Feten. Sie wird allgemein definiert als eine exzessive Flüssigkeitsvermehrung im Interstitium und den Körperhöhlen des Feten, die als Ödem, als Pleura- und Perikarderguss und als Aszites manifest wird. Der Hydrops fetalis ist das Endstadium verschiedenster Störungen. Abhängig vom Vorhandensein oder Fehlen mütterlicher Antikörper gegen Antigene der fötalen Erythrozyten (AB0-Inkompatibilität oder Rhesus (Rh)-Inkompatibilität) werden immunologische (Immun-Hydrops fetalis, IHF) und nicht-immunologische (Nicht-Immun-Hhydrops fetalis, NIHF) Ursachen unterschieden (siehe diese Termini)."},"es":{"name":"Hidropesía fetal","synonyms":["Anasarca fetal","Edema fetal generalizado","HF","Hidrops fetal"],"definition":"La hidropesia fetal es una enfermedad fetal grave y de difícil diagnóstico y manejo que se define normalmente como la acumulación excesiva de líquido fetal en los compartimentos extravasculares fetales y las cavidades del cuerpo que se manifiesta como edema, derrames pleural y pericárdico y ascitis. Es la consecuencia final de una amplia variedad de trastornos. La causa puede ser inmunológica (hidropesia fetal inmune, IHF) o no inmunológica (hidropesia fetal no inmune, NIHF) (consulte estos términos), dependiendo de la presencia o ausencia de anticuerpos maternos contra antígenos de glóbulos rojos fetales (incompatibilidad ABO o incompatibilidad rhesus (Rh))."},"it":{"name":"Idrope fetale","synonyms":["Anasarca fetale","Edema fetale generalizzato","HF","Idropisia fetale"],"definition":"L'idrope fetale è una condizione grave letale, di difficile gestione, definita dall'accumulo eccessivo di liquido all'interno dei compartimenti extravascolari e delle cavità del corpo del feto. Si presenta con edemi, versamento pleurico e pericardico e ascite. Rappresenta lo stadio terminale di un'ampia gamma di malattie. La causa può essere immunologica (idrope fetale immune, IHF) o non immunologica (idrope fetale non immune, NIHF) (si vedano questi termini), a seconda della presenza o dell'assenza di anticorpi materni diretti contro gli antigeni eritrocitari fetali (incompatibilità ABO o incompatibilità Rhesus [Rh])."},"nl":{"name":"Hydrops foetalis","synonyms":["Foetale anasarca","Foetale hydrops","Gegeneraliseerd foetaal oedeem","HF"],"definition":"Hydrops foetalis is een ernstige foetale conditie die meestal gedefinieerd wordt als de buitensporige accumulatie van foetale vloeistof in de foetale extravasculaire compartimenten en lichaamsholten en manifesteert zich als oedeem, pleurale en pericardiale effusie en ascites. Het is het eindstadium van diverse aandoeningen. De oorzaak kan immunologisch (immune hydrops fetalis, IHF) of niet immunologisch (niet-immune hydrops fetalis, IHF) (zie deze termen) zijn, afhankelijk van de aanwezigheid of afwezigheid van maternale antistoffen tegen foetale rode bloedcel antigenen (ABO incompatibiliteit of rhesus (Rh) incompatibiliteit)."},"pt":{"name":"Hidrópsia fetal","synonyms":["Edema fetal"]},"pl":{"name":"Obrzęk płodu","synonyms":["HF","Obrzęk uogólniony płodu","Wodniak płodu"]},"cs":{"name":"Hydrops plodu","synonyms":["Hydrops fetalis","Fetální anasarka","Fetální hydrops","Generalizovaný fetální edém","HF"]},"uk":{"name":"Водянка плоду","synonyms":["Анасарка плода","Fetal hydrops","Генералізований набряк плода","HF"],"definition":"Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility)."},"zh":{"name":"胎儿水肿","synonyms":["全身胎儿水肿"]},"tr":{"name":"Hidrops fetalis","synonyms":["HF","fetal hidrops","fetal anasarca","Jeneralize fetal ödem"]}},"xrefs":[{"source":"OMIM","code":"236750","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P56.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"P56.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"P83.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"KA85","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1028993421"},{"source":"ICD-11","code":"KA85.0","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1589938690"},{"source":"ICD-11","code":"KA85.Y","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"KC41.1","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1182287637"},{"source":"MONDO","code":"0015193","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015160","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0020305","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2783","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10020529","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93890,"name":"Rare developmental defect during embryogenesis","classifications":[147]}],"children":[{"orpha":364013,"name":"Immune hydrops fetalis","type":"Clinical subtype"},{"orpha":363999,"name":"Non-immune hydrops fetalis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ANGPT2","name":"angiopoietin 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34876502[PMID]","hgnc":"485","ensembl":"ENSG00000091879","omim":"601922","loci":["8p23.1"],"via":{"orpha":363999,"name":"Non-immune hydrops fetalis"}},{"symbol":"CALCRL","name":"calcitonin receptor like receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30115739[PMID]","hgnc":"16709","ensembl":"ENSG00000064989","omim":"114190","loci":["2q32.1"],"via":{"orpha":363999,"name":"Non-immune hydrops fetalis"}},{"symbol":"THSD1","name":"thrombospondin type 1 domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30055085[PMID]","hgnc":"17754","ensembl":"ENSG00000136114","omim":"616821","loci":["13q14.3"],"via":{"orpha":363999,"name":"Non-immune hydrops fetalis"}}],"inheritance":["Not applicable"],"onset":["Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":134.0,"area":"Ireland","status":"Validated","source":"16964808[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":380.0,"area":"Turkey","status":"Validated","source":"24094760[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":180.0,"area":"Thailand","status":"Validated","source":"19459517[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-13","source":"29500832[PMID]_31512356[PMID]","terms":[{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030005","label":"Capillary leak","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032548","label":"Increased placental thickness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001790","label":"Nonimmune hydrops fetalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005268","label":"Spontaneous abortion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001871","label":"Abnormality of blood and blood-forming tissues","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007430","label":"Generalized edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001698","label":"Pericardial effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032169","label":"Severe infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100763","label":"Abnormality of the lymphatic system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031110","label":"Twin-to-twin transfusion","frequency":"Very rare (<4-1%)","criteria":null}]}}