{"orpha":36367,"name":"Distal deletion 1q syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Monosomy 1qter","Telomeric deletion 1q","Distal monosomy 1q"],"definition":"A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophageal and urogenital anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-36367/","orphanet_url":"https://www.orpha.net/en/disease/detail/36367","names":{"fr":{"name":"Syndrome de délétion distale 1q","synonyms":["Délétion 1qter","Délétion télomérique 1q","Monosomie 1qter","Monosomie distale 1q","Monosomie télomérique 1q"],"definition":"Anomalie chromosomique caractérisée par une déficience intellectuelle, une microcéphalie progressive, des crises convulsives, un retard de croissance, une dysmorphie faciale caractéristique et diverses malformations de la ligne médiane, notamment cardiaques, du corps calleux, gastro-oesophagiennes et urogénitales."},"de":{"name":"Distale Deletion 1q","synonyms":["Distale Monosomie 1q","Monosomie 1qter","Telomere Deletion 1q"],"definition":"Eine seltene Chromosomenanomalie, die durch Intelligenzminderung, progressive Mikrozephalie, Krampfanfälle, Wachstumsverzögerung, ausgeprägte Gesichtsdysmorphien und verschiedene Mittelliniendefekte, einschließlich Herz-, Corpus-callosum-, gastroösophageale und urogenitale Anomalien, gekennzeichnet ist."},"es":{"name":"Síndrome de deleción terminal 1q","synonyms":["Monosomía 1qter","Monosomía terminal 1q"],"definition":"Es una anomalía cromosómica poco frecuente caracterizada por discapacidad intelectual, microcefalia progresiva, crisis epilépticas, retraso del desarrollo, caracteristicas faciales dismórficas distintivas y varios defectos de la línea media incluyendo anomalías cardiacas, del cuerpo calloso, gastroesofágicas y urogenitales."},"it":{"name":"Sindrome delezione 1q distale","synonyms":["Monosomia 1q distale","Delezione 1q telomerica","Monosomia 1qter"]},"nl":{"name":"Distale deletie 1q-syndroom","synonyms":["Distale monosomie 1q","Monosomie 1qter","Telomerische deletie 1q"],"definition":"Een zeldzame chromosomale anomalie, gekenmerkt door intellectuele achterstand, progressieve microcefalie, insulten, groeiachterstand, typische dysmorfe gelaatskenmerken, en verschillende defecten van de middellijn waaronder anomalieën van hart en corpus callosum, en gastro-oesofageale en urogenitale anomalieën."},"pt":{"name":"Deleção distal 1q","synonyms":["Deleção telomérica 1q","Monossomia 1qter","Monossomia distal 1q"]},"pl":{"name":"Zespół delecji dystalnej 1q","synonyms":["Dystalna delecja 1q","Monosomia 1qter","Telomerowa delecja 1q"],"definition":"Rzadka anomalia chromosomalna charakteryzująca się upośledzeniem umysłowym, postępującą małogłowiem, drgawkami, opóźnieniem wzrostu, dysmorfią twarzy i różnymi wadami pośrodkowej linii ciała, w tym dotyczącymi serca, ciała modzelowatego, żołądka i przełyku oraz układu moczowo-płciowego."},"cs":{"name":"Distální monozomie 1q","synonyms":["Distální delece 1q","Monozomie 1qter","Telomerická delece 1q"]},"uk":{"name":"Дистальна делеція 1q","synonyms":["Дистальна моносомія 1q","Моносомія 1qter","Делеція теломерної ділянки 1q"],"definition":"A rare chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies."},"zh":{"name":"1号染色体长臂远端单体","synonyms":["1号染色体长臂端粒缺失"]},"tr":{"name":"Distal monozomi 1q","synonyms":["Monozomi 1qter","Distal delesyon 1q","Telomerik delesyon 1q"]}},"xrefs":[{"source":"OMIM","code":"612337","qualifier":"NTBT","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":"2124150657"},{"source":"MONDO","code":"0018205","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273897","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":262001,"name":"Partial deletion of the long arm of chromosome 1 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"ZBTB18","name":"zinc finger and BTB domain containing 18","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"28283832[PMID]_24193349[PMID]","hgnc":"13030","ensembl":"ENSG00000179456","omim":"608433","loci":["1q44"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-26","source":"22186213[PMID]_25728055[PMID]_3703649[PMID]_2137964[PMID]","terms":[{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000319","label":"Smooth philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null}]}}