{"Name":"Diffuse panbronchiolitis","DiseaseID__c":"GARD:0008526","id":8526,"encodedName":"diffuse-panbronchiolitis","IsDeleted":false,"Disease_Name_Full__c":"Diffuse panbronchiolitis","Xref_IDs__c":"430476004; C0878555; C202116; C536174; MEDGEN:163897; MONDO:0011490; OMIM:604809; ORPHA:171700","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":1,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011490","Disease_Description__c":"Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis","GARD_Name__c":"Diffuse panbronchiolitis","GARD_Synonym__c":"pblt","Curated_Disease_Description_Source__c":"GARD:0008526","Curated_Disease_Description__c":"Diffuse panbronchiolitis (DPB) is a rare condition characterized by inflammation of the small airways of the lungs (bronchiolitis) and chronic sinusitis. It mainly occurs among the Japanese but has been reported in other populations. Symptoms typically develop anywhere from the teenage years to the fifth decade of life and are slowly progressive. Common symptoms include chronic sinusitis, a productive cough (producing mucus), breathlessness with exertion, wheezing, and weight loss (especially as symptoms worsen). The exact cause of DPB is not known, but a variety of genetic, environmental, and systemic factors appear to contribute to the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:171700","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011490","ORPHANET_ID__c":"ORPHA:171700","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Panbronquiliolitis difusa","Spanish_Description_Source__c":"ORPHA:171700","Spanish_Description__c":"La panbronquiolitis difusa es una enfermedad pulmonar inflamatoria obstructiva crónica que afecta principalmente a los bronquiolos respiratorios a través de ambos pulmones e induce a infecciones sinobronquiales. Su aparición se produce de la segunda a la quinta década de vida y se manifiesta mediante tos crónica, disnea de esfuerzo, y producción de esputo. La mayoría de los pacientes también presentan sinusitis paranasal crónica.","Spanish_Disease_Name__c":"panbronquiliolitis difusa","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":"Diffuse panbronchiolitis (DPB) is a rare condition characterized by inflammation of the small airways of the lungs (bronchiolitis) and chronic sinusitis. It mainly occurs among the Japanese but has been reported in other populations. Symptoms typically develop anywhere from the teenage years to the fifth decade of life and are slowly progressive. Common symptoms include chronic sinusitis, a productive cough (producing mucus), breathlessness with exertion, wheezing, and weight loss (especially as symptoms worsen). The exact cause of DPB is not known, but a variety of genetic, environmental, and systemic factors appear to contribute to the condition.","Curated_Disease_Description_Source__c":"GARD:0008526","GARD_Synonym__c":"pblt","Name":"Diffuse panbronchiolitis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Lung Association","Website__c":"https://www.lung.org/"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:171700"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008526","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=430476004","Source__c":"C0878555; MONDO:0011490","Xref__c":"430476004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536174","Source__c":"MONDO:0011490","Xref__c":"C536174"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0878555","Source__c":"C0878555","Xref__c":"C0878555"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=163897","Source__c":"C0878555","Xref__c":"MEDGEN:163897"},{"URL__c":"https://www.orpha.net/en/disease/detail/171700","Source__c":"C0878555; MONDO:0011490; ORPHA:171700","Xref__c":"ORPHA:171700"},{"URL__c":"https://www.omim.org/entry/604809","Source__c":"C0878555; MONDO:0011490; ORPHA:171700","Xref__c":"OMIM:604809"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011490","Source__c":"GARD:0008526","Xref__c":"MONDO:0011490"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C202116","Source__c":"C0878555","Xref__c":"C202116"}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:604809","Feature__r":{"HPO_Description__c":"Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030831","HPO_Name__c":"Rhonchi","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604809","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":"OMIM:604809","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":"OMIM:604809","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"}},{"Provided_By__c":"OMIM:604809","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":"OMIM:604809","Feature__r":{"HPO_Description__c":"An abnormally low level of blood oxygen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012418","HPO_Synonym__c":"Low blood oxygen level","HPO_Name__c":"Hypoxemia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:604809","Feature__r":{"HPO_Description__c":"The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003651","HPO_Synonym__c":"Foamy histiocytes; Foamy macrophages; Lipid-laden histiocytes; Presence of foam cells","HPO_Name__c":"Foam cells","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Pulmonology"],"Specialist":["Pulmonology"]},"synonyms":["pblt"]}