{"orpha":247676,"name":"Adult hypophosphatasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Adult Rathbun disease","Adult phosphoethanolaminuria"],"definition":"A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247676/","orphanet_url":"https://www.orpha.net/en/disease/detail/247676","names":{"fr":{"name":"Hypophosphatasie de l'adulte","synonyms":["Maladie de Rathbun de l'adulte","Phosphoéthanolaminurie de l'adulte"],"definition":"Forme modérée d'hypophosphatasie (HPP) caractérisée par une ostéomalacie apparaissant à l'âge adulte, une chondrocalcinose, une ostéoarthropathie, des fractures de stress et des anomalies dentaires."},"de":{"name":"Hypophosphatasie des Erwachsenen","synonyms":["Phosphoethanolaminurie, adulte","Rathburn-Krankheit, adulte"],"definition":"Eine moderate Form der Hypophosphatasie (HPP), die durch Osteomalazie im Erwachsenenalter, Chondrokalzinose, Osteoarthropathie, Stressfrakturen und Zahnanomalien gekennzeichnet ist."},"es":{"name":"Hipofosfatasia del adulto","synonyms":["Enfermedad de Rathburn del adulto","Fosfoetanolaminuria del adulto"],"definition":"Es una forma moderada de hipofosfatasia (HPP) caracterizada por osteomalacia, condrocalcinosis, osteoartropatía, fracturas por estrés y anomalías dentales de inicio en la edad adulta."},"it":{"name":"Ipofosfatasia dell'adulto","synonyms":["Fosfoetanolaminuria dell'adulto","Malattia di Rathburn dell'adulto"],"definition":"Si tratta di una forma moderata di ipofosfatasia (HPP), caratterizzata da osteomalacia a esordio nell'età adulta, condrocalcinosi, osteoartropatia, fratture da stress e anomalie dei denti."},"nl":{"name":"Volwassen hypofosfatasie","synonyms":["Volwassen fosfo-ethanolaminurie","Ziekte van Rathburn bij volwassenen"],"definition":"Een matige vorm van hypofosfatasie (HPP), gekarakteriseerd door in de volwassenheid optredende osteomalacie, chondrocalcinose, osteoartropathie, stressfracturen, en tandanomalieën."},"pt":{"name":"Hipofosfatasia no adulto","definition":"Forma moderada de hipofosfatasia (HPP) caracterizada por osteomalácia com início na idade adulta, condrocalcinose, osteoartropatia, fraturas de stress e anomalias dentárias."},"pl":{"name":"Hipofosfatazja dorosłych","synonyms":["Choroba Rathburna dorosłych","Fosfoetanoloaminuria dorosłych"]},"cs":{"name":"Adultní hypofosfatázie","synonyms":["Adultní Rathburnova choroba","Adultní fosfoetanolaminurie"]},"uk":{"name":"Гіпофосфатазія у дорослих","synonyms":["Фосфоетаноламінурія у дорослих","Хвороба Ратбуна у дорослих"],"definition":"A moderate form of hypophosphatasia (HPP) characterized by adult onset osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures and dental anomalies."},"zh":{"name":"成人型低磷酸酯酶症","synonyms":["成人低磷酸酯酶症"],"definition":"一种中度低磷酸酯酶症（HPP），以成人期发病的骨软化症、软骨钙质沉着症、骨关节病、应力性骨折和牙齿异常为特征。"},"tr":{"name":"Yetişkin hipofosfatazi","synonyms":["Erişkin Rathbun hastalığı","Erişkin fosfoetanolaminüri"]}},"xrefs":[{"source":"OMIM","code":"146300","qualifier":"E","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":"attributed","validated":true},{"source":"MeSH","code":"C562647","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268413","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":98027,"name":"Rare disease with odontological manifestation","classifications":[197]}],"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":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}