{"orpha":254528,"name":"Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Maternal del(14)(q32.2)","Maternal monosomy 14q32.2"],"definition":null,"note":"This disease is described under Kagami-Ogata syndrome","url":"https://raremap.alftech.space/d/ORPHA-254528/","orphanet_url":"https://www.orpha.net/en/disease/detail/254528","names":{"fr":{"name":"Syndrome de Kagami-Ogata lié à une microdélétion maternelle 14q32.2","synonyms":["Del(14)(q32.2) maternelle","Monosomie maternelle 14q32.2"]},"de":{"name":"Kagami-Ogata-Syndrom durch maternale Mikrodeletion 14q32.2","synonyms":["Del (14)(q32.2), maternal","Monosomie 14q32.2, maternal"]},"es":{"name":"Síndrome de Kagami-Ogata por microdeleción materna 14q32.2","synonyms":["Monosomía materna 14q32.2","Del(14)(q32.2) materna"]},"it":{"name":"Sindrome da microdelezione 14q32.2 materna","synonyms":["Del(14)(q32.2) materna","Monosomia 14q32.2 materna"]},"nl":{"name":"Syndroom van Kagami-Ogata door maternale 14q32.2-microdeletie","synonyms":["Maternale del(14)(q32.2)","Maternale monosomie 14q32.2"]},"pt":{"name":"Síndrome de Kagami-Ogata por microdeleção 14q32.2 materna"},"pl":{"name":"Zespół mikrodelecji matczynej 14q32.2","synonyms":["Matczyna del(14)(q32.2)","Monosomia matczyna 14q32.2"]},"cs":{"name":"Syndrom maternální mikrodelece 14q32.2","synonyms":["Maternální del(14)(q32.2)","Maternální monozomie 14q32.2"]},"uk":{"name":"Синдром Кагамі-Огата, зумовлений материнською мікроделецією 14q32.2","synonyms":["Материнська del(14)(q32.2)","Моносомія по материнській лінії 14q32.2"]},"zh":{"name":"母源染色体14q32.2微缺失所致加Kagami-Ogata综合征","synonyms":["母源14q32.2单体"]},"tr":{"name":"Maternal 14q32.2 mikrodelesyonuna bağlı Kagami-Ogata sendromu","synonyms":["Maternal del (14) (q32.2)","Maternal monozomi 14q32.2"]}},"xrefs":[{"source":"OMIM","code":"608149","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.E","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1333445601"},{"source":"MONDO","code":"0016781","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679640","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":254519,"name":"Kagami-Ogata syndrome","classifications":[147,156,181]},{"orpha":262110,"name":"Partial deletion of the long arm of chromosome 14 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"DLK1","name":"delta like non-canonical Notch ligand 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]","hgnc":"2907","ensembl":"ENSG00000185559","omim":"176290","loci":["14q32.2"]},{"symbol":"MEG3","name":"maternally expressed 3","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]_24801763[PMID]","hgnc":"14575","ensembl":"ENSG00000214548","omim":"605636","loci":["14q32.2"]},{"symbol":"RTL1","name":"retrotransposon Gag like 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18176563[PMID]","hgnc":"14665","ensembl":"ENSG00000254656","omim":"611896","loci":["14q32.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"28640239[PMID]_24891339[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28640239[PMID]_24891339[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-06","source":"26377239[PMID]_30232357[PMID]","terms":[{"hpo":"HP:0006665","label":"Coat hanger sign of ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005257","label":"Thoracic hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006267","label":"Large placenta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000565","label":"Esotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002263","label":"Exaggerated cupid's bow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010511","label":"Long toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001845","label":"Overlapping toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000884","label":"Prominent sternum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005989","label":"Redundant neck skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001239","label":"Wrist flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very rare (<4-1%)","criteria":null}]}}