{"Name":"Allergic bronchopulmonary aspergillosis","DiseaseID__c":"GARD:0000602","id":602,"encodedName":"allergic-bronchopulmonary-aspergillosis","IsDeleted":false,"Disease_Name_Full__c":"Allergic bronchopulmonary aspergillosis","Xref_IDs__c":"37981002; B44.81; C3278302; C84547; D001229; DOID:13166; MEDGEN:479932; MONDO:0015243; OMIM:103920; ORPHA:1164","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015243","Disease_Description__c":"A rare immunologic pulmonary disorder caused by hypersensitivity to <i>Aspergillus fumigatus</i>, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates.","GARD_Name__c":"Allergic bronchopulmonary aspergillosis","GARD_Synonym__c":"abpa; allergic aspergillosis; allergic bronchopulmonary aspergillosis, familial; hinson-pepys disease; pulmonary aspergillus disease","Curated_Disease_Description_Source__c":"GARD:0000602","Curated_Disease_Description__c":"Allergic bronchopulmonary aspergillosis is an allergic lung reaction to a type of fungus (Aspergillus fumigatus). Symptoms vary, but may include wheezing, bronchial hyperreactivity, hemoptysis, productive cough, low-grade fever, malaise, and weight loss. It is more common in people who have asthma or cystic fibrosis. The clinical course of Allergic bronchopulmonary aspergillosis is variable.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1164","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015243","ORPHANET_ID__c":"ORPHA:1164","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aspergilosis bronco-pulmonar alérgica","Spanish_Description_Source__c":"ORPHA:1164","Spanish_Description__c":"Es un trastorno pulmonar poco frecuente de origen inmunológico mediado por una reacción de hipersensibilidad al hongo Aspegillus fumigatus, que se manifiesta clínicamente por un asma mal controlado e infiltrados pulmonares recurrentes.","Spanish_Disease_Name__c":"aspergilosis bronco-pulmonar alérgica","Spanish_GARD_Synonym__c":"abpa; aspergilosis alérgica; enfermedad de hinson-pepys","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":"Allergic bronchopulmonary aspergillosis is an allergic lung reaction to a type of fungus (Aspergillus fumigatus). Symptoms vary, but may include wheezing, bronchial hyperreactivity, hemoptysis, productive cough, low-grade fever, malaise, and weight loss. It is more common in people who have asthma or cystic fibrosis. The clinical course of Allergic bronchopulmonary aspergillosis is variable.","Curated_Disease_Description_Source__c":"GARD:0000602","GARD_Synonym__c":"abpa; allergic aspergillosis; allergic bronchopulmonary aspergillosis, familial; hinson-pepys disease; pulmonary aspergillus disease","Name":"Allergic bronchopulmonary aspergillosis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Allergy & Asthma Network Mothers of Asthmatics","Website__c":"https://allergyasthmanetwork.org/"},{"Account_Name__c":"International Pediatric Fungal Network","Website__c":"http://www.ipfn.org/"},{"Account_Name__c":"Aspergillus & Aspergillosis","Website__c":"https://www.aspergillus.org.uk/"}],"GARD_Disease_Tag__c":[{"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":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Rare mycosis","Tag_Category__c":"Cause","curated_tag_name":"Fungal Infectious Diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1164"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=37981002","Source__c":"MONDO:0015243","Xref__c":"37981002"},{"URL__c":"https://www.omim.org/entry/103920","Source__c":"C3278302; MONDO:0015243","Xref__c":"OMIM:103920"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3278302","Source__c":"C3278302","Xref__c":"C3278302"},{"URL__c":"https://www.orpha.net/en/disease/detail/1164","Source__c":"C3278302; MONDO:0015243","Xref__c":"ORPHA:1164"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001229","Source__c":"MONDO:0015243","Xref__c":"D001229"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=479932","Source__c":"C3278302","Xref__c":"MEDGEN:479932"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84547","Source__c":"MONDO:0015243","Xref__c":"C84547"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13166","Source__c":"MONDO:0015243","Xref__c":"DOID:13166"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/B44.81","Source__c":"MONDO:0015243","Xref__c":"B44.81"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015243","Source__c":"GARD:0000602","Xref__c":"MONDO:0015243"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1164","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1164","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1164","HPO_Frequency__c":"Occasional (5-29%)","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:1164","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025426","HPO_Synonym__c":"Abnormality of the bronchi","HPO_Name__c":"Abnormal bronchus morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1164","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:1164","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal count or structure of eosinophils.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001879","HPO_Synonym__c":"Abnormality of eosinophils","HPO_Name__c":"Abnormal eosinophil morphology","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1164","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1164","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002715","HPO_Synonym__c":"Abnormality of the immune system; Immunological abnormality","HPO_Name__c":"Abnormality of the immune system","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1164","HPO_Frequency__c":"Frequent (30-79%)","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:1164","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002099","HPO_Synonym__c":"Asthma; Bronchial asthma","HPO_Name__c":"Asthma","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1164","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Mild fever that does not exceed 38.5 degrees centigrade.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011134","HPO_Synonym__c":"Low-grade fever; Mild fever","HPO_Name__c":"Low-grade fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1164","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002092","HPO_Synonym__c":"Increased blood pressure in blood vessels of lungs; Pulmonary artery hypertension","HPO_Name__c":"Pulmonary arterial hypertension","Feature_System__c":"Cardiovascular System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1164","HPO_Frequency__c":"Occasional (5-29%)","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:1164","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology","Immunology","Pediatrics"],"Cause":["Rare mycosis"]},"synonyms":["abpa"," allergic aspergillosis"," allergic bronchopulmonary aspergillosis, familial"," hinson-pepys disease"," pulmonary aspergillus disease"]}