{"orpha":250989,"name":"1q21.1 microdeletion syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Del(1)(q21)","Monosomy 1q21.1"],"definition":"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-250989/","orphanet_url":"https://www.orpha.net/en/disease/detail/250989","names":{"fr":{"name":"Syndrome de microdélétion 1q21.1","synonyms":["Del(1)(q21)","Monosomie 1q21.1"],"definition":"Le syndrome de microdélétion 1q21.1 est un syndrome microdélétionnel récemment décrit associé à des manifestations variables, mais différentes de celles du syndrome thrombocytopénie - aplasie radiale (TAR)."},"de":{"name":"Mikrodeletionssyndrom 1q21.1","synonyms":["Del(1)(q21)","Monosomie 1q21.1"],"definition":"Das 1q21.1-Mikrodeletion-Syndrom ist ein rekurrentes Deletions-Syndrom, das sich klinisch unterschiedlich, aber ohne die Symptome des Thrombozytopenie-fehlender Radius (TAR)-Syndroms manifestiert."},"es":{"name":"Síndrome de microdeleción 1q21.1","synonyms":["Del(1)(q21)","Monosomía 1q21.1"],"definition":"El síndrome de microdeleción 1q21.1 es un síndrome de microdeleción recientemente descrito con manifestaciones clínicas variables pero que difieren del síndrome trombocitopenia - radio ausente (TAR)."},"it":{"name":"Sindrome da microdelezione 1q21.1","synonyms":["Del(1)(q21)","Monosomia 1q21.1"],"definition":"La sindrome da microdelezione 1q21.1 è una malattia da delezione ricorrente, descritta di recente, caratterizzata da un quadro clinico variabile, diverso da quello osservato nella sindrome trombocitopenia-aplasia del radio (TAR)."},"nl":{"name":"1q21.1-microdeletiesyndroom","synonyms":["Del(1)(q21)","Monosomie 1q21.1"],"definition":"Een syndroom met een terugkerende deletie, gekenmerkt door variabele klinische manifestaties maar zonder het klinische beeld van trombocytopenie - afwezige radius (TAR)-syndroom."},"pt":{"name":"Síndrome de microdeleção 1q21.1","synonyms":["Monossomia 1q21.1"],"definition":"A síndrome de microdeleção 1q21.1 é uma síndrome de deleção recorrente recém-descrito com manifestações clínicas variáveis, mas sem o quadro clínico de trombocitopenia - síndrome raio ausente (TAR)."},"pl":{"name":"Zespół mikrodelecji 1q21.1","synonyms":["Del(1)(q21)","Monosomia 1q21.1"]},"cs":{"name":"Syndrom mikrodelece 1q21.1","synonyms":["Del(1)(q21)","Monozomie 1q21.1"]},"uk":{"name":"Синдром мікроделеції 1q21.1","synonyms":["Del(1)(q21)","Моносомія 1q21.1"],"definition":"1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome."},"zh":{"name":"染色体1q21.1微缺失综合征","synonyms":["1q21.1单体"],"definition":"1q21.1微缺失综合征是一种新发现的复发性缺失综合征，临床表现多样，但没有血小板减少-桡骨缺失(TAR)综合征的临床表现。"},"tr":{"name":"1q21.1 mikrodelesyon sendromu","synonyms":["Del (1) (q21)","Monozomi 1q21.1"]}},"xrefs":[{"source":"OMIM","code":"612474","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1854309838"},{"source":"MONDO","code":"0012914","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567291","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2675897","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10813","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262001,"name":"Partial deletion of the long arm of chromosome 1 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010296","label":"Ankyloglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011611","label":"Interrupted aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}