{"orpha":199332,"name":"Endocrine-cerebro-osteodysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ECO syndrome"],"definition":"Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199332/","orphanet_url":"https://www.orpha.net/en/disease/detail/199332","names":{"fr":{"name":"Syndrome endocrino-cérébro-ostéodysplasique","synonyms":["Syndrome ECO"],"definition":"Le syndrome endocrino-cérébro-ostéodysplasique (ECO) est caractérisé par de multiples anomalies endocriniennes, cérébrales et squelettiques et une mort néonatale."},"de":{"name":"Endokrin-zerebro-osteodysplastisches Syndrom","synonyms":["ECO-Syndrom","Endokrine Zerebro-Osteodysplasie"],"definition":"Das Endokrin-zerebro-osteodysplastische Syndrom (ECO) ist gekennzeichnet durch eine Reihe von Anomalien des Endokriniums, des Gehirns und Skelettsystems die zum Tod schon im Neugeborenenalter führen."},"es":{"name":"Síndrome endocrino-cerebro-osteodisplásico","synonyms":["Síndrome ECO"],"definition":"El síndrome endocrino-cerebro-osteodisplásico (ECO) está caracterizado por varias anomalías esqueléticas, cerebrales y endocrinas, resultando en muerte neonatal."},"it":{"name":"Sindrome endocrino-cerebro-osteodisplastica","synonyms":["Sindrome ECO"],"definition":"La sindrome endocrino-cerebro-osteodisplastica (ECO) è caratterizzata da una serie di anomalie del sistema endocrino, cerebrale e scheletrico con mortalità in epoca neonatale."},"nl":{"name":"Endocrien-cerebro-osteodysplasie-syndroom","synonyms":["ECO-syndroom"],"definition":"Een syndroom, gekenmerkt door verschillende anomalieën van endocrien, cerebraal, en skeletaal systeem resulterend in neonatale mortaliteit."},"pt":{"name":"Síndrome endocrino-cérebro-osteodisplasia","definition":"O síndrome endocrino-cérebro-osteodisplasia (ECO) é caracterizado por várias anomalias dos sistemas endócrino, cerebral e esquelético resultando em mortalidade neonatal."},"pl":{"name":"Zespół endokrynowo-mózgowo-osteodyplastyczny","synonyms":["Zespół ECO"]},"cs":{"name":"Syndrom endokrinocerebroosteodysplázie","synonyms":["ECO syndrom"]},"uk":{"name":"Синдром ендокринно-цереброостеодисплазії","synonyms":["ЕСО-синдром"],"definition":"Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality."},"zh":{"name":"内分泌-脑-骨骼发育不良综合征","synonyms":["ECO综合征"],"definition":"内分泌-脑-骨骼发育不良（ECO）的特征为多种内分泌、大脑和骨骼系统异常导致新生儿死亡。"},"tr":{"name":"Endokrin-serebro-osteodisplazi sendromu","synonyms":["ECO sendromu"]}},"xrefs":[{"source":"OMIM","code":"612651","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"413985102"},{"source":"MONDO","code":"0012980","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509819","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364571,"name":"Dysostosis with limb and face anomalies as a major feature","classifications":[147,156,199]},{"orpha":101960,"name":"Genetic chronic primary adrenal insufficiency","classifications":[156,193]},{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]}],"children":[],"genes":[{"symbol":"CILK1","name":"ciliogenesis associated kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19185282[PMID]","hgnc":"21219","ensembl":"ENSG00000112144","omim":"612325","loci":["6p12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"19185282[PMID]_27069622[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19185282[PMID]_27069622[PMID]"}],"phenotypes":null}