{"Name":"Congenital lobar emphysema","DiseaseID__c":"GARD:0002104","id":2104,"encodedName":"congenital-lobar-emphysema","IsDeleted":false,"Disease_Name_Full__c":"Congenital lobar emphysema","Xref_IDs__c":"66987001; C0265797; C535735; C98895; MEDGEN:120557; MONDO:0007536; OMIM:130710; ORPHA:1928","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0007536","Disease_Description__c":"A respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung.","GARD_Name__c":"Congenital lobar emphysema","GARD_Synonym__c":"cle; cle - congenital lobar emphysema; congenital emphysema; congenital lobar hyperinflation; congenital lobar overinflation; emphysema, congenital lobar; infantile lobar hyperinflation","Curated_Disease_Description_Source__c":"GARD:0002104","Curated_Disease_Description__c":"Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. Signs and symptoms may include difficulty breathing and respiratory distress in infancy, an enlarged chest, compressed lung tissue, cyanosis, and underdevelopment of the cartilage that supports the bronchial tube (bronchial hypoplasia). This disorder may be severe enough to cause associated heart problems (15% of cases) or so mild as to never become apparent. Some cases may be caused by autosomal dominant inheritance while others occur for no apparent reason (sporadic).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:1928","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007536","ORPHANET_ID__c":"ORPHA:1928","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfisema lobar congénito","Spanish_Description_Source__c":"ORPHA:1928","Spanish_Description__c":"Es una anomalía respiratoria caracterizada por distrés respiratorio debido a la hiperinsuflación de uno o más de los lóbulos pulmonares afectados.","Spanish_Disease_Name__c":"enfisema lobar congénito","Spanish_GARD_Synonym__c":"hiperinsuflación lobar congénita; hiperinsuflación lobar infantil","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":"Congenital lobar emphysema is a rare respiratory disorder in which air can enter the lungs but cannot escape, causing overinflation (hyperinflation) of the lobes of the lung. It is most often detected in newborns or young infants, but some cases do not become apparent until adulthood. Signs and symptoms may include difficulty breathing and respiratory distress in infancy, an enlarged chest, compressed lung tissue, cyanosis, and underdevelopment of the cartilage that supports the bronchial tube (bronchial hypoplasia). This disorder may be severe enough to cause associated heart problems (15% of cases) or so mild as to never become apparent. Some cases may be caused by autosomal dominant inheritance while others occur for no apparent reason (sporadic).","Curated_Disease_Description_Source__c":"GARD:0002104","GARD_Synonym__c":"cle; cle - congenital lobar emphysema; congenital emphysema; congenital lobar hyperinflation; congenital lobar overinflation; emphysema, congenital lobar; infantile lobar hyperinflation","Name":"Congenital lobar emphysema","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fetal Health Foundation","Website__c":"https://www.fetalhealthfoundation.org/"},{"Account_Name__c":"American Lung Association","Website__c":"https://www.lung.org/"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1928"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1928"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1928"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1928"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=66987001","Source__c":"C0265797; MONDO:0007536","Xref__c":"66987001"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98895","Source__c":"C0265797; MONDO:0007536","Xref__c":"C98895"},{"URL__c":"https://www.omim.org/entry/130710","Source__c":"C0265797; MONDO:0007536; ORPHA:1928","Xref__c":"OMIM:130710"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120557","Source__c":"C0265797","Xref__c":"MEDGEN:120557"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265797","Source__c":"C0265797","Xref__c":"C0265797"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535735","Source__c":"MONDO:0007536","Xref__c":"C535735"},{"URL__c":"https://www.orpha.net/en/disease/detail/1928","Source__c":"C0265797; MONDO:0007536; ORPHA:1928","Xref__c":"ORPHA:1928"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=47895001","Source__c":"C0265797","Xref__c":"47895001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007536","Source__c":"GARD:0002104","Xref__c":"MONDO:0007536"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0033255","Source__c":"C0265797","Xref__c":"HP:0033255"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1928","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A high-pitched whistling sound associated with labored breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030828","HPO_Synonym__c":"Wheezing","HPO_Name__c":"Wheezing","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1928","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deviation of the mediastinum from its normal position in the midline of the thoracic cavity. The mediastinum is a compartment of the thoracic cavity that contains the heart and its blood vessels, the esophagus, trachea, thymus, as well as nerves and lymph nodes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000012","HPO_Name__c":"Mediastinal shift","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1928","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Collapse of part of a lung associated with absence of inflation (air) of that part.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100750","HPO_Synonym__c":"Partial or complete collapse of part or entire lung; Pulmonary atelectasis","HPO_Name__c":"Atelectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:1928","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1928","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010978","HPO_Name__c":"Abnormality of immune system physiology","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1928","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rapid heartrate that exceeds the range of the normal resting heartrate for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001649","HPO_Synonym__c":"Fast heart rate; Heart racing; Racing heart","HPO_Name__c":"Tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1928","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1928","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1928","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1928","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1928","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002097","HPO_Synonym__c":"Pulmonary emphysema","HPO_Name__c":"Emphysema","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1928","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of symmetry between the left and right halves of the thorax.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001555","HPO_Synonym__c":"Asymmetric chest","HPO_Name__c":"Asymmetry of the thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1928","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Pediatrics"]},"synonyms":["cle"," cle - congenital lobar emphysema"," congenital emphysema"," congenital lobar hyperinflation"," congenital lobar overinflation"," emphysema, congenital lobar"," infantile lobar hyperinflation"]}