{"Name":"Pleuropulmonary blastoma","DiseaseID__c":"GARD:0008757","id":8757,"encodedName":"pleuropulmonary-blastoma","IsDeleted":false,"Disease_Name_Full__c":"Pleuropulmonary blastoma","Xref_IDs__c":"128763002; 707670009; C1266144; C537516; C5669; DOID:4769; HP:0100528; MEDGEN:266105; MONDO:0011014; ORPHA:64742","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011014","Disease_Description__c":"A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.","GARD_Name__c":"Pleuropulmonary blastoma","GARD_Synonym__c":"childhood pulmonary blastoma; paediatric pulmonary blastoma; pediatric pulmonary blastoma; pleuro-pulmonary blastoma; pleuropulmonary blastoma (morphologic abnormality); ppb; pulmonary blastoma of childhood","Curated_Disease_Description_Source__c":"MONDO:0011014","Curated_Disease_Description__c":"A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:64742","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011014","ORPHANET_ID__c":"ORPHA:64742","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Blastoma pleuropulmonar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"blastoma pleuropulmonar","Spanish_GARD_Synonym__c":"blastoma pleuro-pulmonar","Category_Linearization__c":"ORPHA:250908","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":"A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.","Curated_Disease_Description_Source__c":"MONDO:0011014","GARD_Synonym__c":"childhood pulmonary blastoma; paediatric pulmonary blastoma; pediatric pulmonary blastoma; pleuro-pulmonary blastoma; pleuropulmonary blastoma (morphologic abnormality); ppb; pulmonary blastoma of childhood","Name":"Pleuropulmonary blastoma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"International Pleuropulmonary Blastoma/DICER1 Registry","Website__c":"https://www.ppbregistry.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Neonatal","Provided_By__c":"ORPHA:64742"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:64742"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1266144"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK196157","Source__c":"Gene Review","Xref__c":"NBK196157"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4769","Source__c":"MONDO:0011014","Xref__c":"DOID:4769"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C5669","Source__c":"C1266144; MONDO:0011014","Xref__c":"C5669"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537516","Source__c":"MONDO:0011014","Xref__c":"C537516"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=707670009","Source__c":"C1266144; MONDO:0011014","Xref__c":"707670009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1266144","Source__c":"C1266144","Xref__c":"C1266144"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=266105","Source__c":"C1266144","Xref__c":"MEDGEN:266105"},{"URL__c":"https://www.orpha.net/en/disease/detail/64742","Source__c":"C1266144; MONDO:0011014; ORPHA:64742","Xref__c":"ORPHA:64742"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100528","Source__c":"C1266144","Xref__c":"HP:0100528"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011014","Source__c":"GARD:0008757","Xref__c":"MONDO:0011014"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128763002","Source__c":"C1266144","Xref__c":"128763002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DICER1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dicer1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Cancer - Oncologist","Pulmonology","Pediatrics"],"Disease Category":["Cancer","Pulmonology"]},"synonyms":["childhood pulmonary blastoma"," paediatric pulmonary blastoma"," pediatric pulmonary blastoma"," pleuro-pulmonary blastoma"," pleuropulmonary blastoma (morphologic abnormality)"," ppb"," pulmonary blastoma of childhood"]}