{"orpha":88661,"name":"Amelogenesis imperfecta","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88661/","orphanet_url":"https://www.orpha.net/en/disease/detail/88661","names":{"fr":{"name":"Amélogenèse imparfaite","definition":"L'amélogenèse imparfaite (AI) constitue un groupe d'anomalies du développement affectant la structure et l'apparence clinique de l'émail de toutes ou de quasiment toutes les dents, de façon plus ou moins identique. L'AI peut être associée à d'autres anomalies morphologiques ou biochimiques."},"de":{"name":"Amelogenesis imperfecta","definition":"Als Amelogenesis imperfecta (AI) wird eine Gruppe von Entwicklungsstörungen des Zahnschmelzes bezeichnet. Struktur und klinischer Aspekt des Schmelzes sind in mehr oder weniger gleicher Weise an allen oder fast allen Zähnen verändert. Die Störung kann mit morphologischen oder biochemischen Veränderungen an anderer Stelle assoziiert sein."},"es":{"name":"Amelogénesis imperfecta","definition":"Es un trastorno genético dental o periodontal poco frecuente que representa un grupo de trastornos del desarrollo que afectan a la estructura y la apariencia clínica del esmalte de todos o casi todos los dientes de forma similar y que pueden estar asociados con cambios morfológicos o bioquímicos en otras partes del cuerpo."},"it":{"name":"Amelogenesi imperfetta"},"nl":{"name":"Amelogenesis imperfecta","definition":"Een zeldzame, genetische, odontale of parodontale aandoening die een groep van ontwikkelingsstoornissen vertegenwoordigt die de structuur en het klinische voorkomen van tandglazuur van alle of bijna alle tanden op min of meer dezelfde wijze aantasten, en die geassocieerd kunnen zijn met morfologische of biochemische veranderingen elders in het lichaam."},"pt":{"name":"Amelogénese imperfeita"},"pl":{"name":"Amelogenesis imperfecta - Wrodzony niedorozwój szkliwa"},"cs":{"name":"Amelogenesis imperfecta"},"uk":{"name":"Недосконалий амелогенез","definition":"A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body."},"zh":{"name":"牙釉质生长不全"},"tr":{"name":"Amelogenezis imperfekta"}},"xrefs":[{"source":"OMIM","code":"104500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"104510","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"104530","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"130900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"204650","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"204700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301201","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612529","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613211","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614832","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615887","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616221","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616270","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617217","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620104","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K00.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA30.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1923123066"},{"source":"MONDO","code":"0019507","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000567","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0002452","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5791","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98026,"name":"Rare odontologic disease"},"parents":[{"orpha":420755,"name":"Rare genetic odontal or periodontal disorder","classifications":[156]},{"orpha":164001,"name":"Rare odontal or periodontal disorder","classifications":[197]}],"children":[{"orpha":100032,"name":"Hypocalcified amelogenesis imperfecta","type":"Clinical subtype"},{"orpha":100033,"name":"Hypomaturation amelogenesis imperfecta","type":"Clinical subtype"},{"orpha":100034,"name":"Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism","type":"Clinical subtype"},{"orpha":100031,"name":"Hypoplastic amelogenesis imperfecta","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ACP4","name":"acid phosphatase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27843125[PMID]","hgnc":"14376","ensembl":"ENSG00000142513","omim":"606362","loci":["19q13.33"],"via":{"orpha":100031,"name":"Hypoplastic amelogenesis 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000","value":90.0,"area":"India","status":"Validated","source":"21712629[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":142.0,"area":"Sweden","status":"Validated","source":"3169793[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-14","source":"27550338[PMID]_17408482[PMID]","terms":[{"hpo":"HP:0011073","label":"Abnormality of dental color","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006286","label":"Yellow-brown discoloration of the teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009102","label":"Anterior open-bite malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006285","label":"Enamel hypomineralization","frequency":"Frequent 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