{"orpha":411515,"name":"Angelman syndrome due to imprinting defect in 15q11-q13","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Angelman syndrome","url":"https://raremap.alftech.space/d/ORPHA-411515/","orphanet_url":"https://www.orpha.net/en/disease/detail/411515","names":{"fr":{"name":"Syndrome d'Angelman dû à un défaut d'empreinte de la région 15q11-q13"},"de":{"name":"Angelman-Syndrom durch Imprinting-Defekt in 15q11-q13"},"es":{"name":"Síndrome de Angelman por un defecto de impronta en 15q11-q13"},"it":{"name":"Sindrome di Angelman da difetto dell'imprinting in regione 15q11-q13"},"nl":{"name":"Syndroom van Angelman door imprintingsdefect in 15q11-q13"},"pt":{"name":"Síndrome Angelman por anomalia do imprinting no locus 15q11-q13"},"pl":{"name":"Zespół Angelmana spowodowany defektem imprintingu 15q11-q13"},"cs":{"name":"Angelmanův syndrom způsobený poruchou imprintingu 15q11-q13"},"uk":{"name":"Синдром Ангельмана, зумовлений дефектом імпринтингу в 15q11-q13"},"zh":{"name":"15q11-q13印迹缺陷导致的天使综合征"},"tr":{"name":"15q11-q13'teki imprinting defektine bağlı Angelman sendromu"}},"xrefs":[{"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,"icd11_uri":"null"},{"source":"MONDO","code":"0018462","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681834","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":72,"name":"Angelman syndrome","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"ATP10A","name":"ATPase phospholipid transporting 10A (putative)","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"11326269[PMID]_17347796[PMID]","hgnc":"13542","ensembl":"ENSG00000206190","omim":"605855","loci":["15q12"]},{"symbol":"SNRPN","name":"small nuclear ribonucleoprotein polypeptide N","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"17347796[PMID]_22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]","hgnc":"11164","ensembl":"ENSG00000128739","omim":"182279","loci":["15q11.2"]},{"symbol":"UBE3A","name":"ubiquitin protein ligase E3A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"17347796[PMID]_22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]","hgnc":"12496","ensembl":"ENSG00000114062","omim":"601623","loci":["15q11.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-03","source":"20301323[PMID]_26040994[PMID]_28211971[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031936","label":"Delayed ability to walk","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040082","label":"Happy demeanor","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:0000748","label":"Inappropriate laughter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","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:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","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:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000710","label":"Hyperorality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006979","label":"Sleep-wake cycle disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}