{"orpha":1653,"name":"Dentin dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DD"],"definition":"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1653/","orphanet_url":"https://www.orpha.net/en/disease/detail/1653","names":{"fr":{"name":"Dysplasie de la dentine","synonyms":["DD","Dysplasie dentinaire"],"definition":"La dysplasie de la dentine (DD) est une maladie rare appartenant au groupe des anomalies héréditaires de la dentine , caractérisée par une structure dentinaire et un développement de la racine anormaux, résultant au développement anormal de la dent. Cette maladie comprend deux sous-types : la DD de type I et la DD de type II."},"de":{"name":"Dentindysplasie","synonyms":["DD"],"definition":"Die Dentindysplasie ist eine erbliche Störung in der Bildung des Dentins. Das Dentin der Zahnkronen erscheint normal, die Pulpa ist obliteriert, die Zahnwurzeln fehlerhaft ausgebildet. Ohne erkennbare Ursache besteht eine Neigung zu Knochenläsionen der Alveolarfortsätze. Sie umfasst zwei Subtypen: DD Typ I und DD Typ II (siehe jeweils dort)."},"es":{"name":"Displasia de la dentina","synonyms":["DD"],"definition":"La displasia de la dentina (DD; ver este término) es una enfermedad rara que pertenece al grupo de defectos hereditarios de la dentina. Se caracteriza por un desarrollo anómalo de la estructura de la dentina y de las raíces que da lugar a un desarrollo anómalo de los dientes. Abarca dos subtipos: DD tipo I y DD tipo II."},"it":{"name":"Displasia della dentina","synonyms":["DD"],"definition":"La displasia della dentina (DD) è una malattia rara, che appartiene al gruppo dei difetti ereditari della dentina (si veda questo termine), caratterizzata da anomalie strutturali della dentina e dello sviluppo delle radici, che causano un anomalo sviluppo dei denti. Comprende due sottotipi: la DD tipo I e la DD tipo II (si vedano questi termini)."},"nl":{"name":"Dentinedysplasie","synonyms":["DD"],"definition":"Dentinedysplasie (DD) is een zeldzame stoornis die tot de groep van erfelijke dentinestoornissen behoort (zie deze term) en is gekenmerkt door een abnormale dentinestructuur en wortelontwikkeling, met een abnormale tandontwikkeling tot gevolg. Er zijn twee subtypes: DD type I en DD type II (zie deze termen)."},"pt":{"name":"Displasia da dentina"},"pl":{"name":"Dysplazja zębiny","synonyms":["DD"]},"cs":{"name":"Dysplázie dentinu","synonyms":["DD"]},"uk":{"name":"Дисплазія дентину","synonyms":["DD"],"definition":"Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms)."},"zh":{"name":"牙本质发育异常","synonyms":["DD"]},"tr":{"name":"Dentin displazisi","synonyms":["DD"]}},"xrefs":[{"source":"OMIM","code":"125400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"125420","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K00.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA30.7","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1262020657"},{"source":"MONDO","code":"0015613","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D003805","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0011430","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98026,"name":"Rare odontologic disease"},"parents":[{"orpha":167759,"name":"Hereditary dentin defect","classifications":[156,197]}],"children":[{"orpha":314721,"name":"Atypical dentin dysplasia due to SMOC2 deficiency","type":"Clinical subtype"},{"orpha":99789,"name":"Dentin dysplasia type I","type":"Clinical subtype"},{"orpha":99791,"name":"Dentin dysplasia type II","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"VPS4B","name":"vacuolar protein sorting 4 homolog B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27247351[PMID]","hgnc":"10895","ensembl":"ENSG00000119541","omim":"609983","loci":["18q21.33"],"via":{"orpha":99789,"name":"Dentin dysplasia type I"}},{"symbol":"DSPP","name":"dentin sialophosphoprotein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3054","ensembl":"ENSG00000152591","omim":"125485","loci":["4q22.1"],"via":{"orpha":99791,"name":"Dentin dysplasia type II"}},{"symbol":"SMOC2","name":"SPARC related modular calcium binding 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22152679[PMID]","hgnc":"20323","ensembl":"ENSG00000112562","omim":"607223","loci":["6q27"],"via":{"orpha":314721,"name":"Atypical dentin dysplasia due to SMOC2 deficiency"}},{"symbol":"SSUH2","name":"ssu-2 homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27680507[PMID]","hgnc":"24809","ensembl":"ENSG00000125046","omim":"617479","loci":["3p25.3"],"via":{"orpha":99789,"name":"Dentin dysplasia type I"}}],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100777","label":"Exostoses","frequency":"Frequent (79-30%)","criteria":null}]}}