{"orpha":247685,"name":"Odontohypophosphatasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247685/","orphanet_url":"https://www.orpha.net/en/disease/detail/247685","names":{"fr":{"name":"Odontohypophosphatasie","definition":"Forme particulière d'hypophosphatasie (HPP) caractérisée par une diminution de l'activité de la phosphatase alcaline sérique non fractionnée, une exfoliation prématurée des dents primaires et/ou permanentes et/ou des formes sévères de caries dentaires, en l'absence d'anomalies du système squelettique."},"de":{"name":"Odontohypophosphatasie","definition":"Ein Subtyp der Hypophosphatasie (HPP), die durch eine verminderte Aktivität der unfraktionierten alkalischen Serumphosphatase, eine vorzeitige Exfoliation der Milchzähne und/oder der bleibenden Zähne und/oder eine schwere Zahnkaries gekennzeichnet ist, ohne dass Anomalien des Skelettsystems vorliegen."},"es":{"name":"Odontohipofosfatasia","definition":"Es una forma particular de hipofosfatasia (HPP) caracterizada por una reducción de la actividad de la fosfatasa alcalina no fraccionada sérica, exfoliación precoz de los dientes temporales y/o de los permanentes que puede ir acompañada, o no, de graves caries dentales, en ausencia de anomalías del sistema esquelético."},"it":{"name":"Odontoipofosfatasia","definition":"Si tratta di una forma di ipofosfatasia (HPP) caratterizzata dalla riduzione dell'attività della fosfatasi alcalina sierica non frazionata, esfoliazione prematura dei denti decidui e/o permanenti, e/o carie dentali gravi, in assenza di anomalie scheletriche."},"nl":{"name":"Odontohypofosfatasie","definition":"Een specifieke vorm van hypofosfatasie (HPP), gekarakteriseerd door verminderde activiteit van alkalische fosfatase in niet-gefractioneerd serum, premature exfoliatie van primaire en/of permanente tanden en/of ernstige dentale cariës, in afwezigheid van skeletafwijkingen."},"pt":{"name":"Odontohipofosfatasia","definition":"Forma particular de hipofosfatasia (HPP) caracterizada por atividade reduzida da fosfatase alcalina sérica não fracionada, queda prematura de dentes decíduos e/ou permanentes e/ou cáries dentárias graves, na ausência de anomalias do sistema esquelético."},"pl":{"name":"Odontohipofosfatazja"},"cs":{"name":"Odontohypofosfatázie"},"uk":{"name":"Одонтогіпофосфатазія","definition":"A particular form of hypophosphatasia (HPP) characterized by reduced activity of unfractionated serum alkaline phosphatase, premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities."},"zh":{"name":"牙齿型低磷酸酯酶症","definition":"一种特殊形式的低磷酸酯酶症（HPP），其特征是普通血清碱性磷酸酶活性降低，乳牙和/或恒牙过早脱落和/或严重龋齿，而骨骼系统无异常表现。"},"tr":{"name":"Odontohipofosfatazya"}},"xrefs":[{"source":"OMIM","code":"146300","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016607","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564146","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840322","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":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}