{"orpha":72,"name":"Angelman syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic neurodevelopmental disorder characterized by moderate to severe intellectual disability, microcephaly, seizures, ataxic gait and distinct abnormal facial shape.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-72/","orphanet_url":"https://www.orpha.net/en/disease/detail/72","names":{"fr":{"name":"Syndrome d'Angelman","definition":"Maladie neurodéveloppementale rare, d'origine génétique, caractérisée par une déficience intellectuelle modérée à sévère, une microcéphalie, des convulsions, une démarche ataxique et une dysmorphie faciale caractéristique."},"de":{"name":"Angelman-Syndrom","definition":"Eine seltene genetisch bedingte neurologische Entwicklungsstörung, die durch eine mittelschwere bis schwere Intelligenzminderung, Mikrozephalie, Krampfanfälle, ataktischen Gang und eine ausgeprägte abnorme Gesichtsform gekennzeichnet ist."},"es":{"name":"Síndrome de Angelman","definition":"Es un trastorno neurogenético caracterizado por un a discapacidad intelectual profunda y rasgos dismórficos faciales distintivos."},"it":{"name":"Sindrome di Angelman","definition":"La sindrome di Angelman (AS) è una malattia neurologica, di origine genetica, caratterizzata da grave ritardo mentale e dismorfismi facciali caratteristici."},"nl":{"name":"Syndroom van Angelman","definition":"Een zeldzame genetische neurologische ontwikkelingsstoornis, gekenmerkt door matige tot ernstige intellectuele achterstand, microcefalie, insulten, atactische gang, en een aangezicht met een specifieke abnormale vorm."},"pt":{"name":"Síndrome Angelman","definition":"A síndrome de Angelman (AS) é uma patologia neurogenética caracterizada por atraso mental grave e características dismórficas faciais distintas."},"pl":{"name":"Zespół Angelmana","definition":"Zaburzenie neurogenetyczne charakteryzujące się poważnym deficytem intelektualnym i charakterystyczną dysmorfią twarzy."},"cs":{"name":"Angelmanův syndrom","definition":"Angelmanův syndrom (AS) je neurogenetická porucha charakterizovaná těžkým stupněm mentálního postižení a výraznými změnami v obličeji."},"uk":{"name":"Синдром Ангельмана","definition":"A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features."},"zh":{"name":"天使综合征"},"tr":{"name":"Angelman sendromu"}},"xrefs":[{"source":"OMIM","code":"105830","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD90.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1106558408"},{"source":"MONDO","code":"0007113","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D017204","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0162635","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5810","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10049004","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166469,"name":"Chromosomal anomaly with epilepsy as a major feature","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":641343,"name":"Imprinting disorders","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98033,"name":"Rare neurologic disease with psychiatric involvement","classifications":[181]}],"children":[{"orpha":411511,"name":"Angelman syndrome due to a point mutation","type":"Etiological subtype"},{"orpha":411515,"name":"Angelman syndrome due to imprinting defect in 15q11-q13","type":"Etiological subtype"},{"orpha":98794,"name":"Angelman syndrome due to maternal 15q11q13 deletion","type":"Etiological subtype"},{"orpha":98795,"name":"Angelman syndrome due to paternal uniparental disomy of chromosome 15","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"UBE3A","name":"ubiquitin protein ligase E3A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22670133[PMID]_24876791[PMID]_25212744[PMID]_20301323[PMID]","hgnc":"12496","ensembl":"ENSG00000114062","omim":"601623","loci":["15q11.2"],"via":{"orpha":411511,"name":"Angelman syndrome due to a point mutation"}},{"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"],"via":{"orpha":411515,"name":"Angelman syndrome due to imprinting defect in 15q11-q13"}},{"symbol":"OCA2","name":"OCA2 melanosomal transmembrane protein","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"10905897[PMID]_20301323[PMID]","hgnc":"8101","ensembl":"ENSG00000104044","omim":"611409","loci":["15q12-q13.1"],"via":{"orpha":98794,"name":"Angelman syndrome due to maternal 15q11q13 deletion"}},{"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"],"via":{"orpha":411515,"name":"Angelman syndrome due to imprinting defect in 15q11-q13"}},{"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"],"via":{"orpha":98794,"name":"Angelman syndrome due to maternal 15q11q13 deletion"}},{"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"],"via":{"orpha":98795,"name":"Angelman syndrome due to paternal uniparental disomy of chromosome 15"}},{"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"],"via":{"orpha":411515,"name":"Angelman syndrome due to imprinting defect in 15q11-q13"}}],"inheritance":["Not applicable"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.5,"area":"Worldwide","status":"Validated","source":"20301323[PMID]_21587322[PMID]_[EXPERT]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Australia","status":"Validated","source":"16492624[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Australia","status":"Not yet validated","source":"16492624[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Spain","status":"Validated","source":"12373673[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":8.3,"area":"Spain","status":"Validated","source":"12373673[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.8,"area":"Estonia","status":"Validated","source":"16906556[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Estonia","status":"Not yet validated","source":"16906556[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Denmark","status":"Validated","source":"7573182[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Denmark","status":"Validated","source":"23913711[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"United Kingdom","status":"Validated","source":"21152085[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-03","source":"20301323[PMID]_32087041[PMID]","terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000748","label":"Inappropriate laughter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002286","label":"Fair hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","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:0010808","label":"Protruding tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100023","label":"Recurrent hand flapping","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006979","label":"Sleep-wake cycle disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007270","label":"Atypical absence seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007266","label":"Cerebral dysmyelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012569","label":"Delayed menarche","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040082","label":"Happy demeanor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000563","label":"Keratoconus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000543","label":"Optic disc pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008081","label":"Pes valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010465","label":"Precocious puberty in females","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100703","label":"Tongue thrusting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Very rare (<4-1%)","criteria":null}]}}