{"orpha":231140,"name":"Silver-Russell syndrome due to an imprinting defect of 11p15","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-231140/","orphanet_url":"https://www.orpha.net/en/disease/detail/231140","names":{"fr":{"name":"Syndrome de Silver-Russell dû à un défaut d'empreinte de la région 11p15"},"de":{"name":"Silver-Russell-Syndrom durch Imprintingdefekt von 11p15"},"es":{"name":"Síndrome de Silver-Russell por defectos de impronta de la región 11p15"},"it":{"name":"Sindrome di Silver-Russell da difetto dell'imprinting di 11p15"},"nl":{"name":"Syndroom van Silver-Russell door imprintingsdefect van 11p15"},"pt":{"name":"Síndrome de Silver-Russell por deficiência de impressão 11q15"},"pl":{"name":"Zespół Silvera i Russella z powodu defektu imprintingu 11p15"},"cs":{"name":"Silverův-Russellův syndrom způsobený poruchou imprintingu 11p15","synonyms":["Silver-Russellův syndrom způsobený poruchou imprintingu 11p15"]},"uk":{"name":"Синдром Сільвера-Рассела, зумовлений дефектом імпринтингу 11р15"},"zh":{"name":"11p15印迹缺陷所致Silver-Russell综合征"},"tr":{"name":"11p15 imprinting defekti 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":"0016480","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680916","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":"19675668[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":"33236057[PMID]","hgnc":"5466","ensembl":"ENSG00000167244","omim":"147470","loci":["11p15.5"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-20","source":"20301499[PMID]_30221575[PMID]_24945423[PMID]","terms":[{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100560","label":"Upper limb asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000811","label":"Abnormal external genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001540","label":"Diastasis recti","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001998","label":"Neonatal hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001052","label":"Nevus flammeus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001476","label":"Delayed closure of the anterior fontanelle","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very rare (<4-1%)","criteria":null}]}}