{"orpha":247638,"name":"Prenatal benign hypophosphatasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Prenatal benign Rathbun disease","Prenatal benign phosphoethanolaminuria"],"definition":"A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247638/","orphanet_url":"https://www.orpha.net/en/disease/detail/247638","names":{"fr":{"name":"Hypophosphatasie prénatale bénigne","synonyms":["Maladie de Rathbun prénatale benine","Phosphoéthanolaminurie prénatale benine"],"definition":"Forme très rare d'hypophosphatasie caractérisée par des manifestations squelettiques prénatales (membres raccourcis et recourbés) qui se résorbent lentement de manière spontanée et qui, chez l'enfant ou l'adulte, peuvent évoluer vers des formes modérées de la maladie."},"de":{"name":"Hypophosphatasie, benigne pränatale","synonyms":["Phosphoethanolaminurie, benigne pränatale","Rathburn-Krankheit, benigne pränatale"],"definition":"Eine sehr seltene Form der Hypophosphatasie, die durch pränatale Skelettmanifestationen (Verkürzung und Verkrümmung der Gliedmaßen) gekennzeichnet ist, die sich langsam spontan zurückbilden und sich später zu den moderaten Formen der Krankheit im Kindes- oder Erwachsenenalter entwickeln können."},"es":{"name":"Hipofosfatasia prenatal benigna","synonyms":["Enfermedad de Rathburn prenatal benigna","Fosfoetanolaminuria prenatal benigna"],"definition":"Es una forma muy poco frecuente de hipofosfatasia caracterizada por manifestaciones esqueléticas prenatales (acortamiento y arqueamiento de las extremidades), que remiten lentamente de manera espontánea, que pueden derivar más tarde en formas moderadas de la enfermedad: HPP infantil o del adulto."},"it":{"name":"Ipofosfatasia prenatale benigna","synonyms":["Fosfoetanolaminuria prenatale benigna","Malattia di Rathburn prenatale benigna"],"definition":"L'ipofosfatasia prenatale benigna (PB-HPP) è una forma molto rara di ipofosfatasia, caratterizzata da sintomi scheletrici prenatali (accorciamento e incurvamento degli arti) che si risolvono spontaneamente con il tempo. Successivamente, la malattia può evolvere verso la forma infantile moderata o dell'adulto."},"nl":{"name":"Prenatale goedaardige hypofosfatasie","synonyms":["Prenatale goedaardige fosfo-ethanolaminurie","Prenatale goedaardige ziekte van Rathburn"],"definition":"Een zeer zeldzame vorm van hypofosfatasie, gekarakteriseerd door prenatale manifestaties aan skelet (verkorting en verkromming van ledematen) die langzaamaan spontaan verdwijnen en daarna kunnen ontwikkelen tot mildere vormen van de ziekte bij kinderen of volwassenen."},"pt":{"name":"Hipofosfatasia pré-natal benigna","synonyms":["Doença de Rathbun benigna prénatal","Fosfoetanolaminuria benigna pré-natal"],"definition":"Forma muito rara de hipofosfatasia (HPP) caracterizada por manifestações esqueléticas pré-natais (encurtamento e encurvamento dos membros) que resolvem de forma lenta e espontânea sendo que mais tarde poderão evoluir para as formas moderadas de HPP (formas juvenil ou do adulto)."},"pl":{"name":"Prenatalna łagodna hipofosfatazja","synonyms":["Prenatalna łagodna choroba Rathburna","Prenatalna łagodna fosfoetanoloaminuria"]},"cs":{"name":"Prenatální benigní hypofosfatázie","synonyms":["Prenatální benigní Rathburnova choroba","Prenatální benigní fosfoetanolaminurie"]},"uk":{"name":"Пренатальна доброякісна гіпофосфатазія","synonyms":["Пренатальна доброякісна фосфоетаноламінурія","Пренатальна доброякісна хвороба Ратбуна"],"definition":"A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease."},"zh":{"name":"围产期良性低磷酸酯酶症","synonyms":["围产期良性低磷酸酯酶症"],"definition":"一种非常罕见的低磷酸酯酶症，其特征是产前发现骨骼异常（肢体缩短和弯曲），可缓慢自发消退，后续可能发展为中度的儿童或成人型低磷酸酯酶症。"},"tr":{"name":"Doğum öncesi selim hipofosfatazi","synonyms":["Doğum öncesi selim Rathbun hastalığı","Doğum öncesi selim fosfoetanolaminüri"]}},"xrefs":[{"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":"1239713511"},{"source":"UMLS","code":"C5679616","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]},{"orpha":139393,"name":"Syndromic craniosynostosis","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 dominant","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}