{"Name":"Idiopathic bronchiectasis","DiseaseID__c":"GARD:0016664","id":16664,"encodedName":"idiopathic-bronchiectasis","IsDeleted":false,"Disease_Name_Full__c":"Idiopathic bronchiectasis","Xref_IDs__c":"233629001; C0339985; MEDGEN:573462; MONDO:0018956; ORPHA:60033","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018956","Disease_Description__c":"Idiopathic bronchiectasis&#160;(IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).","GARD_Name__c":"Idiopathic bronchiectasis","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:60033","Curated_Disease_Description__c":"Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:60033","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018956","ORPHANET_ID__c":"ORPHA:60033","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Bronquiectasia idiopática","Spanish_Description_Source__c":"ORPHA:60033","Spanish_Description__c":"Es una enfermedad pulmonar progresiva caracterizada por la dilatación crónica de los bronquios y la destrucción de las paredes bronquiales en ausencia de cualquier causa subyacente (como enfermedad posinfecciosa, aspiración, inmunodeficiencia, anomalías congénitas y anomalías ciliares).","Spanish_Disease_Name__c":"bronquiectasia idiopática","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97955","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":"Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).","Curated_Disease_Description_Source__c":"ORPHA:60033","Name":"Idiopathic bronchiectasis","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Bronchiectasis Info and Research","Website__c":"https://bronchiectasisinfo.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:60033"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=573462","Source__c":"C0339985","Xref__c":"MEDGEN:573462"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0339985","Source__c":"C0339985","Xref__c":"C0339985"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=233629001","Source__c":"C0339985; MONDO:0018956","Xref__c":"233629001"},{"URL__c":"https://www.orpha.net/en/disease/detail/60033","Source__c":"C0339985; MONDO:0018956; ORPHA:60033","Xref__c":"ORPHA:60033"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018956","Source__c":"GARD:0016664","Xref__c":"MONDO:0018956"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SCNN1G","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scnn1g","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SCNN1A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scnn1a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SCNN1B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/scnn1b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cough that produces phlegm or mucus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031245","HPO_Synonym__c":"Cough with mucus production; Wet cough","HPO_Name__c":"Productive cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002110","HPO_Synonym__c":"Permanent enlargement of the airways of the lungs","HPO_Name__c":"Bronchiectasis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030830","HPO_Synonym__c":"Crepitations; Rales","HPO_Name__c":"Crackles","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002105","HPO_Synonym__c":"Coughing up blood","HPO_Name__c":"Hemoptysis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030877","HPO_Synonym__c":"Obstructive deficit on pulmonary function test; Obstructive deficit on pulmonary function testing","HPO_Name__c":"Reduced FEV1/FVC ratio","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001217","HPO_Synonym__c":"Clubbing of fingers and toes; Digital clubbing","HPO_Name__c":"Clubbing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Acute inflammation of the lung due to an infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011949","HPO_Name__c":"Acute infectious pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Noticeably unpleasant odors exhaled in breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100812","HPO_Synonym__c":"Bad breath; Foetor ex ore","HPO_Name__c":"Halitosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001658","HPO_Synonym__c":"Heart attack; MI","HPO_Name__c":"Myocardial infarction","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005376","HPO_Synonym__c":"Recurrent H. influenzae infections","HPO_Name__c":"Recurrent Haemophilus influenzae infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","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:60033","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; Thoracic pain","HPO_Name__c":"Chest pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002783","HPO_Synonym__c":"Chronic lung infections; Lower respiratory tract infections; Recurrent chest infections","HPO_Name__c":"Recurrent lower respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","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"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An infection of the upper or lower respiratory tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011947","HPO_Synonym__c":"Respiratory infection; Respiratory tract infection","HPO_Name__c":"Respiratory tract infection","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:60033","HPO_Frequency__c":"Occasional (5-29%)","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:60033","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal function of the respiratory system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002795","HPO_Synonym__c":"Abnormal respiration; Functional respiratory abnormality","HPO_Name__c":"Abnormal respiratory system physiology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology"],"Specialist":["Genetics","Pulmonology","Pediatrics"]},"synonyms":[""]}