{"orpha":247651,"name":"Infantile hypophosphatasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Infantile Rathbun disease","Infantile phosphoethanolaminuria"],"definition":"A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247651/","orphanet_url":"https://www.orpha.net/en/disease/detail/247651","names":{"fr":{"name":"Hypophosphatasie infantile","synonyms":["Maladie de Rathbun infantile","Phosphoéthanolaminurie infantile"],"definition":"Forme génétique sévère et rare d'hypophosphatasie (HPP) caractérisée par un rachitisme infantile, une réduction de l'activité de la phosphatase alcaline sérique (PA) et par un large éventail de manifestations cliniques dues à une hypominéralisation."},"de":{"name":"Hypophosphatasie, infantile","synonyms":["Phosphoethanolaminurie, infantile","Rathburn-Krankheit, infantile"],"definition":"Eine seltene, schwere, genetisch bedingte Form der Hypophosphatasie (HPP), die durch infantile Rachitis ohne erhöhte Aktivität der alkalischen Phosphatase (ALP) im Serum und ein breites Spektrum klinischer Manifestationen aufgrund von Hypomineralisierung gekennzeichnet ist."},"es":{"name":"Hipofosfatasia del lactante","synonyms":["Enfermedad de Rathburn del lactante","Fosfoetanolaminuria del lactante"],"definition":"Es una forma grave de hipofosfatasia, de origen genético y poco frecuente, caracterizada por raquitismo infantil sin elevación de la actividad de la fosfatasa alcalina sérica (ALP) y una gran diversidad de manifestaciones clínicas asociadas debido a la hipomineralización."},"it":{"name":"Ipofosfatasia infantile precoce","synonyms":["Fosfoetanolaminuria infantile","Malattia di Rathburn infantile"],"definition":"Si tratta di una forma genetica, rara e grave, di ipofosfatasia (HPP), caratterizzata da rachitismo neonatale senza aumento dell'attività della fosfatasi alcalina (ALP) sierica, e da un'ampia gamma di segni clinici secondari all'ipomineralizzazione."},"nl":{"name":"Infantiele hypofosfatasie","synonyms":["Infantiele fosfo-ethanolaminurie","Infantiele ziekte van Rathburn"],"definition":"Een zeldzame, ernstige, genetische vorm van hypofosfatasie (HPP), gekarakteriseerd door infantiele rachitis zonder verhoogde activiteit van alkalische fosfatase (ALP) in serum en een brede waaier van klinische manifestaties als gevolg van hypomineralisatie."},"pt":{"name":"Hipofosfatasia da infância","definition":"Forma genética rara e grave de hipofosfatasia (HPP), caracterizada por raquitismo infantil sem aumento de atividade da fosfatase alcalina (ALP) sérica e uma ampla gama de manifestações clínicas devidas a hipomineralização."},"pl":{"name":"Hipofosfatazja dziecięca","synonyms":["Dziecięca choroba Rathburna","Dziecięca fosfoetanoloaminuria"]},"cs":{"name":"Infantilní hypofosfatázie","synonyms":["Infantilní Rathburnova choroba","Infantilní fosfoetanolaminurie"]},"uk":{"name":"Інфантильна гіпофосфатазія","synonyms":["Інфантильна фосфоетаноламінурія","Дитяча хвороба Ратбуна"],"definition":"A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization."},"zh":{"name":"婴儿型低磷酸酯酶症","synonyms":["小儿低磷酸酯酶症"],"definition":"一种罕见的、严重的遗传性低磷酸酯酶症（HPP），其特征是由骨矿化不足所致的婴儿佝偻病，具有广泛的临床表现，不伴有血清碱性磷酸酶（ALP）活性升高。"},"tr":{"name":"İnfantil hipofosfatazi","synonyms":["İnfantil Rathbun hastalığı","İnfantil fosfoetanolaminüri"]}},"xrefs":[{"source":"OMIM","code":"241500","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":"index","validated":true,"icd11_uri":"1832803655"},{"source":"MeSH","code":"C562646","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268412","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]},{"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 recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}