{"orpha":254534,"name":"Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Kagami-Ogata syndrome","url":"https://raremap.alftech.space/d/ORPHA-254534/","orphanet_url":"https://www.orpha.net/en/disease/detail/254534","names":{"fr":{"name":"Syndrome de Kagami-Ogata lié à une hyperméthylation maternelle 14q32.2"},"de":{"name":"Kagami-Ogata-Syndrom durch maternale 14q32.2-Hypomethylierung"},"es":{"name":"Síndrome de Kagami-Ogata por hipermetilación en 14q32.2 del alelo materno"},"it":{"name":"Sindrome da ipermetilazione materna 14q32.2"},"nl":{"name":"Syndroom van Kagami-Ogata door maternale 14q32.2-hypermethylatie"},"pt":{"name":"Síndrome da hipermetilação materna 14q32.2"},"pl":{"name":"Zespół hipometylacji matczynej 14q32.2"},"cs":{"name":"Maternální 14q32.2 hypermethylační syndrom"},"uk":{"name":"Синдром Кагамі-Огата, зумовлений материнським гіперметилюванням 14q32.2"},"zh":{"name":"母源染色体14q32.2高甲基化所致Kagami-Ogata综合征"},"tr":{"name":"Maternal 14q32.2 hipermetilasyona bağlı Kagami-Ogata sendromu"}},"xrefs":[{"source":"OMIM","code":"608149","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016783","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680720","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]}],"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":7.0,"area":"Worldwide","status":"Validated","source":"26377239[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26377239[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-10","source":"32592473[PMID]_26377239[PMID]","terms":[{"hpo":"HP:0006665","label":"Coat hanger sign of ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006267","label":"Large placenta","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:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001520","label":"Large for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001548","label":"Overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}