{"orpha":177910,"name":"Prader-Willi syndrome due to imprinting mutation","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Prader-Willi syndrome","url":"https://raremap.alftech.space/d/ORPHA-177910/","orphanet_url":"https://www.orpha.net/en/disease/detail/177910","names":{"fr":{"name":"Syndrome de Prader-Willi dû à une mutation d'empreinte"},"de":{"name":"Prader-Willi-Syndrom durch Imprinting-Mutation"},"es":{"name":"Síndrome de Prader-Willi por una mutación de impronta"},"it":{"name":"Sindrome di Prader-Willi da mutazione del centro di imprinting"},"nl":{"name":"Syndroom van Prader-Willi door imprintingsmutatie"},"pt":{"name":"Síndrome de Prader-Willi por alteração do imprinting"},"pl":{"name":"Zespół Pradera i Willego spowodowany mutacją imprintingu"},"cs":{"name":"Praderův-Williho syndrom způsobený poruchou imprintingu","synonyms":["Prader-Williho syndrom způsobený poruchou imprintingu"]},"uk":{"name":"Синдром Прадера-Віллі внаслідок мутації імпринтингу"},"zh":{"name":"印记突变所致Prader-Willi综合征"},"tr":{"name":"Genomik damgalama (imprinting) mutasyonuna bağlı Prader-Willi sendromu"}},"xrefs":[{"source":"OMIM","code":"176270","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0015786","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680510","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":739,"name":"Prader-Willi syndrome","classifications":[147,156,181,193,201,205]}],"children":[],"genes":[{"symbol":"MAGEL2","name":"MAGE family member L2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301505[PMID]","hgnc":"6814","ensembl":"ENSG00000254585","omim":"605283","loci":["15q11.2"]},{"symbol":"NDN","name":"necdin, MAGE family member","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"24039599[PMID]","hgnc":"7675","ensembl":"ENSG00000182636","omim":"602117","loci":["15q11.2"]},{"symbol":"SNORD115@","name":"small nucleolar RNA, C/D box 115 cluster","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"22495932[PMID]_20301505[PMID]_28296064[PMID]","hgnc":"32780","ensembl":null,"omim":"609837","loci":["15q11.2"]},{"symbol":"SNORD116@","name":"small nucleolar RNA, C/D box 116 cluster","gene_type":"Non-coding RNA","association":"Role in the phenotype of","status":"Assessed","source":"22495932[PMID]","hgnc":"32781","ensembl":null,"omim":"605436","loci":["15q11.2"]},{"symbol":"SNRPN","name":"small nuclear ribonucleoprotein polypeptide N","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"9634532[PMID]","hgnc":"11164","ensembl":"ENSG00000128739","omim":"182279","loci":["15q11.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-18","source":"17095305[PMID]_9028458[PMID]_17095305[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004039","label":"Abnormality of ulnar metaphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004283","label":"Narrow palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003241","label":"External genital hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Very rare (<4-1%)","criteria":null}]}}