{"orpha":247623,"name":"Perinatal lethal hypophosphatasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Perinatal lethal Rathbun disease","Perinatal lethal phosphoethanolaminuria"],"definition":"A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization <i>in utero</i> due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247623/","orphanet_url":"https://www.orpha.net/en/disease/detail/247623","names":{"fr":{"name":"Hypophosphatasie périnatale létale","synonyms":["Maladie de Rathbun périnatale létale","Phosphoéthanolaminurie périnatale létale"],"definition":"Forme rare d'hypophosphatasie (HPP) d'origine génétique caractérisée par une nette altération de la minéralisation osseuse in utero, due à une activité réduite de la phosphatase alcaline sérique (ALP), et provoquant une mortinaissance ou une insuffisance respiratoire dans les jours suivant la naissance."},"de":{"name":"Hypophosphatasie, letale perinatale","synonyms":["Phosphoethanolaminurie, letale perinatale","Rathbun-Krankheit, letale perinatale"],"definition":"Eine genetisch bedingte Form der Hypophosphatasie (HPP), die durch eine deutlich beeinträchtigte Knochenmineralisierung <i>in utero</i> aufgrund einer verminderten Aktivität der alkalischen Phosphatase (ALP) im Serum gekennzeichnet ist und innerhalb weniger Tage nach der Geburt zu einer Totgeburt oder Atemstillstand führt."},"es":{"name":"Hipofosfatasia perinatal letal","synonyms":["Enfermedad de Rathburn perinatal letal","Fosfoetanolaminuria perinatal letal"],"definition":"Es una forma de hipofosfatasia (HPP) de origen genético y poco frecuente, caracterizada por una mineralización ósea <i>in utero</i> notablemente reducida debido a la disminución de la actividad de la fosfatasa alcalina (ALP) sérica, causando mortinatalidad o insuficiencia respiratoria a los pocos días del nacimiento."},"it":{"name":"Ipofosfatasia perinatale letale","synonyms":["Fosfoetanolaminuria perinatale letale","Malattia di Rathburn perinatale letale"],"definition":"L'ipofosfatasia perinatale letale (PL-HPP) è una forma genetica rara di ipofosfatasia (HPP), caratterizzata da una grave compromissione della mineralizzazione ossea in utero, secondaria alla riduzione dell'attività della fosfatasi alcalina (ALP) sierica. Si associa a morte perinatale o insufficienza respiratoria nei primi giorni di vita."},"nl":{"name":"Perinatale letale hypofosfatasie","synonyms":["Perinatale letale fosfo-ethanolaminurie","Perinatale letale ziekte van Rathburn"],"definition":"Een zeldzame, genetische vorm van hypofosfatasie (HPP), gekarakteriseerd door aanzienlijk verstoorde botmineralisatie <i>in utero</i> als gevolg van verminderde activiteit van alkalische fosfatase (ALP) in serum, en met doodgeboorte of respiratoir falen binnen enkele dagen na de geboorte tot gevolg."},"pt":{"name":"Hipofosfatasia perinatal fatal","definition":"Forma genética rara de hipofosfatasia (HPP) caracterizada por uma diminuição grave da mineralização óssea in utero devido à atividade reduzida da fosfatase alcalina (ALP) sérica, e resulta em nado-morto ou em insuficiência respiratória poucos dias após o nascimento."},"pl":{"name":"Prenatalna śmiertelna hipofosfatazja","synonyms":["Prenatalna śmiertelna choroba Rathburna","Prenatalna śmiertelna fosfoetanoloaminuria"]},"cs":{"name":"Perinatální letální hypofosfatázie","synonyms":["Perinatální letální Rathburnova choroba","Perinatální letální fosfoetanolaminurie"]},"uk":{"name":"Перинатальна летальна гіпофосфатазія","synonyms":["Перинатальна летальна фосфоетаноламінурія","Перинатальна летальна хвороба Ратбуна"],"definition":"A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization <i>in utero</i> due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth."},"zh":{"name":"围产期致命性低磷酸酯酶症","synonyms":["围产期致命性低磷酸酯酶症"],"definition":"一种罕见的遗传性低磷酸酯酶症（HPP），其特征是由于血清碱性磷酸酶（ALP）活性降低引起 宫内 的骨矿化明显受损，并可导致死产或在出生后几天内发生呼吸衰竭。"},"tr":{"name":"Perinatal letal hipofosfatazi","synonyms":["Perinatal letal Rathbun hastalığı","Perinatal letal fosfoetanolaminüri"]}},"xrefs":[{"source":"OMIM","code":"241500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"542239706"},{"source":"MONDO","code":"0016605","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567107","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2673477","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":436,"name":"Hypophosphatasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"ALPL","name":"alkaline phosphatase, biomineralization associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10737975[PMID]_17916236[PMID]_20301329[PMID]","hgnc":"438","ensembl":"ENSG00000162551","omim":"171760","loci":["1p36.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}