{"orpha":293948,"name":"1p21.3 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(1)(p21.3)","Monosomy 1p21.3"],"definition":"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-293948/","orphanet_url":"https://www.orpha.net/en/disease/detail/293948","names":{"fr":{"name":"Syndrome de microdélétion 1p21.3","synonyms":["Del(1)(p21.3)","Monosomie 1p21.3"],"definition":"Anomalie chromosomique extrêmement rare caractérisée par un retard sévère de parole et de langage, une déficience intellectuelle et un trouble du spectre de l'autisme."},"de":{"name":"Mikrodeletionssyndrom 1p21.3","synonyms":["Del(1)(p21.3)","Monosomie 1p21.3"]},"es":{"name":"Síndrome de microdeleción 1p21.3","synonyms":["Del(1)p(21.3)","Monosomía 1p21.3"],"definition":"El síndrome de microdeleción 1p21.3 es una anomalía cromosómica muy poco frecuente caracterizada por un retraso grave en la adquisición del habla y del lenguaje, discapacidad intelectual y trastorno del espectro autista."},"it":{"name":"Sindrome da microdelezione 1p21.3","synonyms":["Del(1)p(21.3)","Monosomia 1p21.3"]},"nl":{"name":"1p21.3-microdeletiesyndroom","synonyms":["Del(1)(p21.3)","Monosomie 1p21.3"],"definition":"1p21.3 microdeletiesyndroom is een extreem zeldzame chromosoomafwijking die gekenmerkt wordt door ernstige spraak- en taalachterstand, intellectuele achterstand, austismespectrumstoornis (zie deze term)."},"pt":{"name":"Síndrome de microdeleção 1p21.3","synonyms":["Del(1)p(21.3)","Monossomia 1p21.3"]},"pl":{"name":"zespół mikrodelecji 1p21.3","synonyms":["Del(1)p(21.3)","Monosomia 1p21.3"]},"cs":{"name":"Mikrodeleční syndrom 1p21.3","synonyms":["Del(1)p(21.3)","Monozomie 1p21.3"]},"uk":{"name":"Синдром мікроделеції 1p21.3","synonyms":["Del(1)(p21.3)","Моносомія 1p21.3"],"definition":"1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term)."},"zh":{"name":"1p21.3微缺失综合征","synonyms":["1p21.3单体"],"definition":"1p21.3微缺失综合征是一种极其罕见的染色体异常，其特征是严重语言和语言发育迟缓、智力发育不全、自闭症谱系障碍（见本术语）。"},"tr":{"name":"1p21.3 mikrodelesyon sendromu","synonyms":["Del(1)(p21.3)","Monozomi 1p21.3"]}},"xrefs":[{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1367610860"},{"source":"MONDO","code":"0017405","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304578","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261857,"name":"Partial deletion of the short arm of chromosome 1 syndrome","classifications":[147,156]},{"orpha":180772,"name":"Rare disease with autism","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DPYD","name":"dihydropyrimidine dehydrogenase","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"22003227[PMID]_21114665[PMID]","hgnc":"3012","ensembl":"ENSG00000188641","omim":"612779","loci":["1p21.3"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"22003227[PMID]_21114665[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-03-23","source":"26279650[PMID]_22003227[PMID]_21114665[PMID]","terms":[{"hpo":"HP:0100738","label":"Abnormal eating behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0400004","label":"Long ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100962","label":"Shyness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}