{"orpha":531,"name":"Miller-Dieker syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Lissencephaly due to 17p13.3 deletion","Monosomy 17p13.3","Telomeric deletion 17p"],"definition":"A rare contiguous gene deletion syndrome of chromosome 17p13.3 characterized by classical lissencephaly, distinct facial dysmorphism, seizures and severe to profound intellectual disability. Additional congenital malformations can be part of the condition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-531/","orphanet_url":"https://www.orpha.net/en/disease/detail/531","names":{"fr":{"name":"Syndrome de Miller-Dieker","synonyms":["Délétion télomérique 17p","Lissencéphalie due à une délétion chromosomique 17p13.3","Monosomie 17p13.3"],"definition":"Syndrome rare de délétion des gènes contigus du chromosome 17p13.3 caractérisé par une lissencéphalie classique, une dysmorphie faciale distincte, des crises d'épilepsie et une déficience intellectuelle sévère à profonde. D'autres malformations congénitales peuvent être observées dans ce syndrome."},"de":{"name":"Miller-Dieker-Syndrom","synonyms":["Lissenzephalie durch Deletion 17p13.3","Monosomie 17p13.3"],"definition":"Ein Contiguous-Gene-Syndrom mit Deletion des Chromosoms 17p13.3, das durch klassische Lissenzephalie, ausgeprägte Gesichtsdysmorphie, Krampfanfälle und schwere bis tiefgreifende Intelligenzminderung gekennzeichnet ist. Zusätzliche angeborene Fehlbildungen können Teil der Erkrankung sein."},"es":{"name":"Síndrome de Miller-Dieker","synonyms":["Deleción terminal 17p","Lisencefalia por deleción 17p13.3","Monosomía 17p13.3"],"definition":"El síndrome de Miller Dieker (MDS) está causado por una deleción contigua en un gen situado en el cromosoma 17p13.3, se caracteriza por presentar lisencefalia clásica (aka lisencefalia de tipo 1) y por diferentes características faciales. Pueden presentarse también malformaciones congénitas."},"it":{"name":"Sindrome di Miller-Dieker","synonyms":["Delezione 17p telomerica","Lissencefalia da delezione 17p13.3","Monosomia 17p13.3"]},"nl":{"name":"Syndroom van Miller-Dieker","synonyms":["Lissencefalie door 17p13.3-deletie","Monosomie 17p13.3","Telomerische deletie 17p"],"definition":"Een zeldzaam syndroom met deletie van aangrenzende genen ('contiguous gene'-deletiesyndroom) van chromosoom 17p13.3, gekenmerkt door klassieke lissencefalie, specifieke faciale dysmorfie, insulten, en ernstige tot zeer ernstige intellectuele achterstand. Bijkomende congenitale malformaties kunnen deel uitmaken van deze aandoening."},"pt":{"name":"Lisencefalia tipo 1 por anomalias no gene LIS 1","synonyms":["Lisencefalia ligada ao cromossoma 17"]},"pl":{"name":"Zespół Millera i Diekera","synonyms":["Lizencefalia spowodowana delecją 17p13.3","Monosomia 17p13.3","Telomerowa delecja 17p"]},"cs":{"name":"Millerův-Diekerův syndrom","synonyms":["Monozomie 17p13.3","Telomerická delece 17p","Lisencefalie způsobená delecí 17p13.3","Miller-Diekerův syndrom"]},"uk":{"name":"Синдром Міллера-Дікера","synonyms":["Лісенцефалія внаслідок делеції 17p13.3","Моносомія 17p13.3","Делеція теломерної ділянки 17p"],"definition":"Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition."},"zh":{"name":"Miller-Dieker综合征","synonyms":["17染色体短臂13.3缺失所致无脑回畸形"]},"tr":{"name":"Miller-Dieker sendromu","synonyms":["Monozomi 17p13.3","Telomerik delesyon 17p","17p13.3 delesyona bağlı Lissensefali"]}},"xrefs":[{"source":"OMIM","code":"247200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"478783491"},{"source":"MONDO","code":"0009532","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D054221","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265219","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3669","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068361","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"orpha":102009,"name":"Classic lissencephaly","classifications":[147,156,181]},{"orpha":261965,"name":"Partial deletion of the short arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"HIC1","name":"HIC ZBTB transcriptional repressor 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"10072440[PMID]_10655551[PMID]","hgnc":"4909","ensembl":"ENSG00000177374","omim":"603825","loci":["17p13.3"]},{"symbol":"PAFAH1B1","name":"platelet activating factor acetylhydrolase 1b regulatory subunit 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"12621583[PMID]","hgnc":"8574","ensembl":"ENSG00000007168","omim":"601545","loci":["17p13.3"]},{"symbol":"YWHAE","name":"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"19584063[PMID]","hgnc":"12851","ensembl":"ENSG00000108953","omim":"605066","loci":["17p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000177","label":"Abnormality of upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Occasional (29-5%)","criteria":null}]}}