{"orpha":853,"name":"Fetal and neonatal alloimmune thrombocytopenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FNAIT","NAIT"],"definition":"A rare hematological disease characterized by maternal alloimmunisation against fetal platelet antigens that are inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopenia in otherwise healthy newborns.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-853/","orphanet_url":"https://www.orpha.net/en/disease/detail/853","names":{"fr":{"name":"Thrombopénie materno-foetale et néonatale allo-immune","synonyms":["NAIT","TNAI"],"definition":"Maladie hématologique rare caractérisée par une allo-immunisation plaquettaire foeto-maternelle dirigée contre des antigènes hérités du père et différents de ceux présents chez la mère. Elle se présente généralement sous la forme d'une thrombocytopénie isolée sévère chez des nouveau-nés par ailleurs en bonne santé."},"de":{"name":"Alloimmunthrombozytopenie, fetale und neonatale","synonyms":["FNAIT"],"definition":"Eine seltene hämatologische Erkrankung, die durch eine mütterliche Alloimmunisierung gegen fetale Thrombozytenantigene gekennzeichnet ist, die vom Vater vererbt werden und sich von denen der Mutter unterscheiden, und die sich in der Regel als schwere isolierte Thrombozytopenie bei ansonsten gesunden Neugeborenen zeigt."},"es":{"name":"Trombocitopenia aloinmune fetal y neonatal","synonyms":["NAIT"],"definition":"Es un trastorno protrombótico de mecanismo inmune e inducido por fármacos, poco frecuente y asociado a trombocitopenia y trombosis venosa y/o arterial."},"it":{"name":"Trombocitopenia alloimmune fetale e neonatale","synonyms":["NAIT"]},"nl":{"name":"Foetale en neonatale allo-immune trombocytopenie","synonyms":["FNAIT","NAIT"],"definition":"Een zeldzame hematologische aandoening, gekenmerkt door maternale allo-immunisatie tegen antigenen op foetale bloedplaatjes die worden overgeërfd van de vader en verschillen van diegenen die aanwezig zijn bij de moeder, en meestal met geïsoleerde trombocytopenie bij voor het overige gezonder neonaten als presentatie."},"pt":{"name":"Trombocitopenia aloimune fetal e neo-natal","definition":"Doença hematológica rara caracterizada por aloimunização materna contra antígenos plaquetários fetais herdados do pai e diferentes daqueles presentes na mãe, e geralmente apresenta-se como uma trombocitopenia isolada grave em recém-nascidos saudáveis."},"pl":{"name":"Alloimmunologiczna małopłytkowość płodowo/noworodkowa","synonyms":["NAIT"]},"cs":{"name":"Fetální a novorozenecká aloimunitní trombocytopénie","synonyms":["NAIT"]},"uk":{"name":"Алоімунна тромбоцитопенія плода та новонароджених","synonyms":["FNAIT","NAIT"],"definition":"A rare hematological disease characterized by maternal alloimmunisation against fetal platelet antigens that are inherited from the father and different from those present in the mother, and usually presents as a severe isolated thrombocytopenia in otherwise healthy newborns."},"zh":{"name":"胎儿和新生儿同种免疫性血小板减少症","synonyms":["FNAIT"]},"tr":{"name":"Fetal ve Yenidoğan alloimmün trombositopeni","synonyms":["NAIT","FNAIT"]}},"xrefs":[{"source":"ICD-10","code":"P61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B64.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1407651542"},{"source":"MONDO","code":"0019415","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3854603","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2295","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":248347,"name":"Rare hemorrhagic disorder due to an acquired platelet anomaly","classifications":[194]}],"children":[],"genes":[{"symbol":"CD109","name":"CD109 molecule","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"21685","ensembl":"ENSG00000156535","omim":"608859","loci":["6q13"]},{"symbol":"GP1BA","name":"glycoprotein Ib platelet subunit alpha","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"4439","ensembl":"ENSG00000185245","omim":"606672","loci":["17p13.2"]},{"symbol":"GP1BB","name":"glycoprotein Ib platelet subunit beta","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"4440","ensembl":"ENSG00000203618","omim":"138720","loci":["22q11.21"]},{"symbol":"ITGA2","name":"integrin subunit alpha 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"6137","ensembl":"ENSG00000164171","omim":"192974","loci":["5q11.2"]},{"symbol":"ITGA2B","name":"integrin subunit alpha 2b","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"6138","ensembl":"ENSG00000005961","omim":"607759","loci":["17q21.31"]},{"symbol":"ITGB3","name":"integrin subunit beta 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"19821948[PMID]","hgnc":"6156","ensembl":"ENSG00000259207","omim":"173470","loci":["17q21.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":39.6307,"area":"Worldwide","status":"Validated","source":"23384054[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":66.6667,"area":"Worldwide","status":"Validated","source":"23384054[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-17","source":"30827816[PMID]_17032445[PMID]_30971767[PMID]_30828796[PMID]","terms":[{"hpo":"HP:0004809","label":"Neonatal alloimmune thrombocytopenia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012541","label":"Cephalohematoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031364","label":"Ecchymosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002249","label":"Melena","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002138","label":"Subarachnoid hemorrhage","frequency":"Very rare (<4-1%)","criteria":null}]}}