{"Name":"16q24.1 microdeletion syndrome","DiseaseID__c":"GARD:0021523","id":21523,"encodedName":"16q241-microdeletion-syndrome","IsDeleted":false,"Disease_Name_Full__c":"16q24.1 microdeletion syndrome","Xref_IDs__c":"770760006; C4749464; MEDGEN:1653385; MONDO:0018127; ORPHA:352629","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018127","Disease_Description__c":"A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).","GARD_Name__c":"16q24.1 microdeletion syndrome","GARD_Synonym__c":"del(16)(q24.1); monosomy 16q24.1","Curated_Disease_Description_Source__c":"MONDO:0018127","Curated_Disease_Description__c":"A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:352629","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018127","ORPHANET_ID__c":"ORPHA:352629","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microdeleción 16q24.1","Spanish_Description_Source__c":"ORPHA:352629","Spanish_Description__c":"Es una monosomía autosómica parcial caracterizada clínicamente por enfermedad pulmonar letal, que se presenta tanto con insuficiencia respiratoria grave como con hipertensión pulmonar refractaria pocas horas después del nacimiento y que, por lo general, produce el fallecimiento por fallo respiratorio en los primeros meses de vida. Los hallazgos histológicos característicos del tejido pulmonar incluyen escasez de capilares en la pared alveolar, engrosamiento de la pared alveolar, hipertrofia muscular de las arterias pulmonares y malposición de las venas pulmonares pequeñas. También se pueden asociar diferentes malformaciones congénitas adicionales, principalmente gastrointestinales (malrotación y atresia intestinal, páncreas anular), genitourinarias (dilatación de las vías urinarias, útero duplicado) y anomalías cardiovasculares (corazón izquierdo hipoplásico y otras anomalías cardíacas congénitas).","Spanish_Disease_Name__c":"síndrome de microdeleción 16q24.1","Spanish_GARD_Synonym__c":"del(16)(q24.1); monosomía 16q24.1","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).","Curated_Disease_Description_Source__c":"MONDO:0018127","GARD_Synonym__c":"del(16)(q24.1); monosomy 16q24.1","Name":"16q24.1 microdeletion syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:352629"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:352629"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/352629","Source__c":"C4749464; MONDO:0018127; ORPHA:352629","Xref__c":"ORPHA:352629"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749464","Source__c":"C4749464","Xref__c":"C4749464"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1653385","Source__c":"C4749464","Xref__c":"MEDGEN:1653385"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018127","Source__c":"GARD:0021523","Xref__c":"MONDO:0018127"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770760006","Source__c":"C4749464","Xref__c":"770760006"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Pulmonology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Pediatrics"]},"synonyms":["del(16)(q24.1)"," monosomy 16q24.1"]}