{"orpha":98795,"name":"Angelman syndrome due to paternal uniparental disomy of chromosome 15","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["UPD(15)pat"],"definition":null,"note":"This disease is described under Angelman syndrome","url":"https://raremap.alftech.space/d/ORPHA-98795/","orphanet_url":"https://www.orpha.net/en/disease/detail/98795","names":{"fr":{"name":"Syndrome d'Angelman dû à une disomie uniparentale paternelle du chromosome 15","synonyms":["UPD(15) paternelle","UPD(15)pat"]},"de":{"name":"Angelman-Syndrom durch paternale UPD 15","synonyms":["UPD(15)pat"]},"es":{"name":"Síndrome de Angelman por disomía uniparental paterna del cromosoma 15","synonyms":["UPD(15)pat"]},"it":{"name":"Sindrome di Angelman da disomia uniparentale paterna del cromosoma 15","synonyms":["UPD(15)pat"]},"nl":{"name":"Syndroom van Angelman door paternale uniparentale disomie van chromosoom 15","synonyms":["UPD(15)pat"]},"pt":{"name":"Dissomia uniparental de origem paterna, cromossoma 15"},"pl":{"name":"Zespół Angelmana z powodu ojcowskiej uniparentalnej disomii chromosomu 15","synonyms":["UPD(15)pat"]},"cs":{"name":"Angelmanův syndrom způsobený paternální uniparentální dizomií chromozomu 15","synonyms":["UDP(15)pat"]},"uk":{"name":"Синдром Ангельмана, зумовлений батьковою уніпарентною дисомією хромосоми 15","synonyms":["UPD(15)pat"]},"zh":{"name":"15号染色体父源单亲二体型天使综合征","synonyms":["父源性UPD(15)"]},"tr":{"name":"15. kromozomun paternal uniparental dizomisine bağlı Angelman sendromu","synonyms":["UPD (15) pat"]}},"xrefs":[{"source":"OMIM","code":"105830","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020303","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680342","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":72,"name":"Angelman syndrome","classifications":[147,156,181]},{"orpha":98154,"name":"Paternal uniparental disomy syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"UBE3A","name":"ubiquitin protein ligase E3A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]","hgnc":"12496","ensembl":"ENSG00000114062","omim":"601623","loci":["15q11.2"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-03","source":"20301323[PMID]_16226874[PMID]_28647735[PMID]","terms":[{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002395","label":"Lower limb hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010808","label":"Protruding tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100703","label":"Tongue thrusting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007270","label":"Atypical absence seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025190","label":"Bilateral tonic-clonic seizure with generalized onset","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004485","label":"Cessation of head growth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011185","label":"EEG with focal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002046","label":"Heat intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Occasional (29-5%)","criteria":null}]}}