{"orpha":231144,"name":"Silver-Russell syndrome due to 11p15 microduplication","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Silver-Russell syndrome","url":"https://raremap.alftech.space/d/ORPHA-231144/","orphanet_url":"https://www.orpha.net/en/disease/detail/231144","names":{"fr":{"name":"Syndrome de Silver-Russell dû à une microduplication 11p15"},"de":{"name":"Silver-Russell-Syndrom durch Mikroduplikation 11p15"},"es":{"name":"Síndrome de Silver-Russell por microduplicación 11p15"},"it":{"name":"Sindrome di Silver-Russell da microduplicazione 11p15"},"nl":{"name":"Syndroom van Silver-Russell als gevolg van 11p15 microduplicatie"},"pt":{"name":"Síndrome de Silver-Russell por microduplicação 11p15"},"pl":{"name":"Zespół Silvera i Russella z powodu mikroduplikacji 11p15"},"cs":{"name":"Silverův-Russellův syndrom způsobený 11p15 mikroduplikací","synonyms":["Silver-Russellův syndrom způsobený 11p15 mikroduplikací"]},"uk":{"name":"Синдром Сільвера-Рассела, зумовлений мікродуплікацією 11р15"},"zh":{"name":"11p15微重复所致Silver-Russell综合征"},"tr":{"name":"11p15 mikro çoğalması kaynaklı Silver-Russell sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016481","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680917","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262785,"name":"Partial duplication of the short arm of chromosome 11 syndrome","classifications":[147,156]},{"orpha":813,"name":"Silver-Russell syndrome","classifications":[147,156,181,189,202]}],"children":[],"genes":[{"symbol":"H19","name":"H19 imprinted maternally expressed transcript","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"28592837[PMID]","hgnc":"4713","ensembl":"ENSG00000130600","omim":"103280","loci":["11p15.5"]},{"symbol":"IGF2","name":"insulin like growth factor 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20503324[PMID]","hgnc":"5466","ensembl":"ENSG00000167244","omim":"147470","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-20","source":"22844132[PMID]_22844132[PMID]","terms":[{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008846","label":"Severe intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}