{"Name":"Tracheal agenesis","DiseaseID__c":"GARD:0005233","id":5233,"encodedName":"tracheal-agenesis","IsDeleted":false,"Disease_Name_Full__c":"Tracheal agenesis","Xref_IDs__c":"3987009; C1261567; C35376; C536975; MEDGEN:266059; MONDO:0018058; ORPHA:3346","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018058","Disease_Description__c":"A rare congenital malformation characterized by either completely absent (agenesis), or severely underdeveloped (atresia) trachea. In both cases, the tracheal lumen is absent for at least a portion of its length, with no proximal-distal communication between the larynx and lower airways. Functionally and in terms of management, tracheal agenesis and tracheal atresia are equivalent.","GARD_Name__c":"Tracheal agenesis","GARD_Synonym__c":"agenesis of trachea; congenital absence of trachea; tracheal absence","Curated_Disease_Description_Source__c":"GARD:0005233","Curated_Disease_Description__c":"Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth. The underlying cause of Tracheal agenesis is currently unknown. Approximately 90% of cases are associated with other anomalies, including those of the cardiovascular system, the gastrointestinal system and the genitourinary tract. Some cases may be part of a very rare condition known as VACTERL association.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:3346","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018058","ORPHANET_ID__c":"ORPHA:3346","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Agenesia traqueal","Spanish_Description_Source__c":"ORPHA:3346","Spanish_Description__c":"Es una malformación congénita poco frecuente caracterizada por la ausencia completa (agenesia) o infradesarrollo (atresia) de la tráquea. En ambos casos, la luz traqueal está ausente en al menos una parte de su longitud, sin comunicación proximal-distal entre la laringe y las vías respiratorias inferiores. Funcionalmente, y en términos de manejo médico, la agenesia traqueal y la atresia traqueal se consideran equivalentes.","Spanish_Disease_Name__c":"agenesia traqueal","Spanish_GARD_Synonym__c":"atresia traqueal","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":"Tracheal agenesis is a rare birth defect in which the trachea (windpipe) is completely absent (agenesis) or significantly underdeveloped (atresia). Signs and symptoms include polyhydramnios during pregnancy and respiratory distress, bluish skin color (cyanosis) and no audible cry shortly after birth. The underlying cause of Tracheal agenesis is currently unknown. Approximately 90% of cases are associated with other anomalies, including those of the cardiovascular system, the gastrointestinal system and the genitourinary tract. Some cases may be part of a very rare condition known as VACTERL association.","Curated_Disease_Description_Source__c":"GARD:0005233","GARD_Synonym__c":"agenesis of trachea; congenital absence of trachea; tracheal absence","Name":"Tracheal agenesis","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Tracheo-Oesophageal Fistula Support","Website__c":"https://www.tofs.org.uk"}],"GARD_Disease_Tag__c":[{"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:3346"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3346"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1261567","Source__c":"C1261567","Xref__c":"C1261567"},{"URL__c":"https://www.orpha.net/en/disease/detail/3346","Source__c":"C1261567; MONDO:0018058; ORPHA:3346","Xref__c":"ORPHA:3346"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=266059","Source__c":"C1261567","Xref__c":"MEDGEN:266059"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C35376","Source__c":"C1261567; MONDO:0018058","Xref__c":"C35376"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536975","Source__c":"MONDO:0018058","Xref__c":"C536975"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=3987009","Source__c":"C1261567; MONDO:0018058","Xref__c":"3987009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018058","Source__c":"GARD:0005233","Xref__c":"MONDO:0018058"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1003555002","Source__c":"C1261567","Xref__c":"1003555002"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3346","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3346","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100682","HPO_Name__c":"Tracheal atresia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3346","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3346","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the intra-atrial or intraventricular septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001671","HPO_Synonym__c":"Abnormality of the cardiac septa; Heart septal defect; Septal defects","HPO_Name__c":"Abnormal cardiac septum morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3346","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006703","HPO_Synonym__c":"Absent/small lungs; Absent/underdeveloped lungs","HPO_Name__c":"Aplasia/Hypoplasia of the lungs","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Otolaryngology","Pediatrics"]},"synonyms":["agenesis of trachea"," congenital absence of trachea"," tracheal absence"]}