{"orpha":728902,"name":"Craniotubular dysplasia, Ikegawa type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-728902/","orphanet_url":"https://www.orpha.net/en/disease/detail/728902","names":{"fr":{"name":"Dysplasie craniotubulaire type Ikegawa"},"de":{"name":"Kraniotubuläre Dysplasie Typ Ikegawa"},"es":{"name":"Displasia craneotubular, tipo Ikegawa"},"it":{"name":"Displasia craniotubulare, tipo Ikegawa"},"nl":{"name":"Craniotubulaire dysplasie, Ikegawa-type"},"pt":{"name":"Craniotubular dysplasia, Ikegawa type"},"pl":{"name":"Craniotubular dysplasia, Ikegawa type"},"cs":{"name":"Craniotubular dysplasia, Ikegawa type"}},"xrefs":[{"source":"OMIM","code":"619727","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TMEM53","name":"transmembrane protein 53","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33824347[PMID]_41408477[PMID]","hgnc":"26186","ensembl":"ENSG00000126106","omim":"619722","loci":["1p34.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}