{"Name":"Birt-Hogg-Dube syndrome 1","DiseaseID__c":"GARD:0002322","id":2322,"encodedName":"birt-hogg-dube-syndrome-1","IsDeleted":false,"Disease_Name_Full__c":"Birt-Hogg-Dube syndrome 1","Xref_IDs__c":"110985001; C28244; CN375946; D058249; DOID:0050676; MEDGEN:1051978; MONDO:0800445","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0800445","Disease_Description__c":"Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.","GARD_Name__c":"Birt-Hogg-Dube syndrome 1","GARD_Synonym__c":"bhd1; hornstein-knickenberg syndrome","Curated_Disease_Description_Source__c":"GARD:0002322","Curated_Disease_Description__c":"Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals. Birt-Hogg-Dubé syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a persons twenties or thirties and become larger and more numerous over time. Affected individuals also have an increased chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung. Additionally, Birt-Hogg-Dubé syndrome is associated with an elevated risk of developing cancerous or noncancerous kidney tumors. Other types of cancer have also been reported in affected individuals, but it is unclear whether these tumors are actually a feature of Birt-Hogg-Dubé syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:122","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0800445","ORPHANET_ID__c":"ORPHA:122","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"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":"Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals. Birt-Hogg-Dubé syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a persons twenties or thirties and become larger and more numerous over time. Affected individuals also have an increased chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung. Additionally, Birt-Hogg-Dubé syndrome is associated with an elevated risk of developing cancerous or noncancerous kidney tumors. Other types of cancer have also been reported in affected individuals, but it is unclear whether these tumors are actually a feature of Birt-Hogg-Dubé syndrome.","Curated_Disease_Description_Source__c":"GARD:0002322","GARD_Synonym__c":"bhd1; hornstein-knickenberg syndrome","Name":"Birt-Hogg-Dube syndrome 1","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Kidney Cancer Association","Website__c":"https://www.kidneycancer.org/"},{"Account_Name__c":"BHD Foundation","Website__c":"https://www.bhdsyndrome.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":"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0346010"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002322","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1522","Source__c":"Gene Review","Xref__c":"NBK1522"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C058249","Source__c":"MONDO:0800445","Xref__c":"D058249"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C28244","Source__c":"MONDO:0800445","Xref__c":"C28244"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=110985001","Source__c":"MONDO:0800445","Xref__c":"110985001"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050676","Source__c":"MONDO:0800445","Xref__c":"DOID:0050676"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN375946","Source__c":"CN375946","Xref__c":"CN375946"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1051978","Source__c":"CN375946","Xref__c":"MEDGEN:1051978"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0800445","Source__c":"GARD:0002322","Xref__c":"MONDO:0800445"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FLCN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/flcn","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Pulmonology","Nephrology","Dermatology"],"Disease Category":["Cancer","Genetics","Pulmonology","Nephrology","Dermatology"],"Cause":["Genetics"],"Account":["Nephrology","Dermatology"]},"synonyms":["bhd1"," hornstein-knickenberg syndrome"]}