{"orpha":708036,"name":"Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708036/","orphanet_url":"https://www.orpha.net/en/disease/detail/708036","names":{"fr":{"name":"Dysplasie ectodermique avec agénésie des incisives latérales maxillaires et des dents antérieures mandibulaires"},"de":{"name":"Ektodermale Dysplasie-Syndrom mit Agenesie der oberen seitlichen Schneidezähne und der vorderen Unterkieferzähne"},"es":{"name":"Displasia ectodérmica con agenesia de incisivos laterales maxilares y dientes anteriores mandibulares"},"it":{"name":"Displasia ectodermica con agenesia degli incisivi laterali della mascella e dei denti anteriori della mandibola"},"nl":{"name":"Ectodermale dysplasie met agenesie van maxillaire laterale incisieven en mandibulaire anterieure gebitselementen","synonyms":["Ectodermale dysplasie met agenesie van bovenste laterale snijtanden en ondertanden"]},"pt":{"name":"Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth"},"pl":{"name":"Dysplazja ektodermalna z agenezją bocznych siekaczy szczęki i przednich zębów żuchwy"},"cs":{"name":"Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth"}},"xrefs":[{"source":"OMIM","code":"617392","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]}],"children":[],"genes":[{"symbol":"KREMEN1","name":"kringle containing transmembrane protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27049303[PMID]_28813618[PMID]","hgnc":"17550","ensembl":"ENSG00000183762","omim":"609898","loci":["22q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"27049303[PMID]_28813618[PMID]_29526031[PMID]_34028942[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"27049303[PMID]_28813618[PMID]_29526031[PMID]_34028942[PMID]_ORPHANET"}],"phenotypes":null}