{"Name":"DICER1-related tumor predisposition","DiseaseID__c":"GARD:0010734","id":10734,"encodedName":"dicer1-related-tumor-predisposition","IsDeleted":false,"Disease_Name_Full__c":"DICER1-related tumor predisposition","Xref_IDs__c":"702411003; C123317; C3839822; DOID:0081063; MEDGEN:825667; MONDO:0100216; ORPHA:284343","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0100216","Disease_Description__c":"Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.","GARD_Name__c":"DICER1-related tumor predisposition","GARD_Synonym__c":"dicer1 syndrome; dicer1-related pleuropulmonary blastoma cancer predisposition syndrome; pleuro-pulmonary blastoma familial tumor susceptibility syndrome; pleuro-pulmonary blastoma familial tumour susceptibility syndrome; pleuropulmonary blastoma familial tumor and dysplasia syndrome; pleuropulmonary blastoma familial tumor susceptibility syndrome; pleuropulmonary blastoma familial tumour susceptibility syndrome; pleuropulmonary blastoma family tumor susceptibility syndrome; ppb familial tumor susceptibility syndrome; ppb familial tumour susceptibility syndrome; ppbftds","Curated_Disease_Description_Source__c":"GARD:0010734","Curated_Disease_Description__c":"DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affected individuals can develop one or more types of tumors, and members of the same family can have different types. However, the risk of tumor formation in individuals with DICER1 syndrome is only moderately increased compared with tumor risk in the general population; most individuals with genetic changes associated with this condition never develop tumors. People with DICER1 syndrome who develop tumors most commonly develop pleuropulmonary blastoma, which is characterized by tumors that grow in lung tissue or in the outer covering of the lungs (the pleura). These tumors occur in infants and young children and are rare in adults. Pleuropulmonary blastoma is classified as one of three types on the basis of tumor characteristics: in type I, the growths are composed of air-filled pockets called cysts; in type II, the growths contain both cysts and solid tumors (or nodules); and in type III, the growth is a solid tumor that can fill a large portion of the chest. Pleuropulmonary blastoma is considered cancerous, and types II and III can spread (metastasize), often to the brain, liver, or bones. Individuals with pleuropulmonary blastoma may also develop an abnormal accumulation of air in the chest cavity that can lead to the collapse of a lung (pneumothorax). Cystic nephroma, which involves multiple benign fluid-filled cysts in the kidneys, can also occur; in people with DICER1 syndrome, the cysts develop early in childhood. DICER1 syndrome is also associated with tumors in the ovaries known as Sertoli-Leydig cell tumors, which typically develop in affected women in their teens or twenties. Some Sertoli-Leydig cell tumors release the male sex hormone testosterone; in these cases, affected women may develop facial hair, a deep voice, and other male characteristics. Some affected women have irregular menstrual cycles. Sertoli-Leydig cell tumors usually do not metastasize. People with DICER1 syndrome are also at risk of multinodular goiter, which is enlargement of the thyroid gland caused by the growth of multiple fluid-filled or solid tumors (both referred to as nodules). The nodules are generally slow-growing and benign. Despite the growths, the thyroid's function is often normal. Rarely, individuals with DICER1 syndrome develop thyroid cancer (thyroid carcinoma).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:284343","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100216","ORPHANET_ID__c":"ORPHA:284343","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de predisposición tumoral familiar al blastoma pleuropulmonar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de predisposición tumoral familiar al blastoma pleuropulmonar","Spanish_GARD_Synonym__c":"ppbftds; síndrome de predisposición tumoral familar al bpp; síndrome dicer1","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":"DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affected individuals can develop one or more types of tumors, and members of the same family can have different types. However, the risk of tumor formation in individuals with DICER1 syndrome is only moderately increased compared with tumor risk in the general population; most individuals with genetic changes associated with this condition never develop tumors. People with DICER1 syndrome who develop tumors most commonly develop pleuropulmonary blastoma, which is characterized by tumors that grow in lung tissue or in the outer covering of the lungs (the pleura). These tumors occur in infants and young children and are rare in adults. Pleuropulmonary blastoma is classified as one of three types on the basis of tumor characteristics: in type I, the growths are composed of air-filled pockets called cysts; in type II, the growths contain both cysts and solid tumors (or nodules); and in type III, the growth is a solid tumor that can fill a large portion of the chest. Pleuropulmonary blastoma is considered cancerous, and types II and III can spread (metastasize), often to the brain, liver, or bones. Individuals with pleuropulmonary blastoma may also develop an abnormal accumulation of air in the chest cavity that can lead to the collapse of a lung (pneumothorax). Cystic nephroma, which involves multiple benign fluid-filled cysts in the kidneys, can also occur; in people with DICER1 syndrome, the cysts develop early in childhood. DICER1 syndrome is also associated with tumors in the ovaries known as Sertoli-Leydig cell tumors, which typically develop in affected women in their teens or twenties. Some Sertoli-Leydig cell tumors release the male sex hormone testosterone; in these cases, affected women may develop facial hair, a deep voice, and other male characteristics. Some affected women have irregular menstrual cycles. Sertoli-Leydig cell tumors usually do not metastasize. People with DICER1 syndrome are also at risk of multinodular goiter, which is enlargement of the thyroid gland caused by the growth of multiple fluid-filled or solid tumors (both referred to as nodules). The nodules are generally slow-growing and benign. Despite the growths, the thyroid's function is often normal. Rarely, individuals with DICER1 syndrome develop thyroid cancer (thyroid carcinoma).","Curated_Disease_Description_Source__c":"GARD:0010734","GARD_Synonym__c":"dicer1 syndrome; dicer1-related pleuropulmonary blastoma cancer predisposition syndrome; pleuro-pulmonary blastoma familial tumor susceptibility syndrome; pleuro-pulmonary blastoma familial tumour susceptibility syndrome; pleuropulmonary blastoma familial tumor and dysplasia syndrome; pleuropulmonary blastoma familial tumor susceptibility syndrome; pleuropulmonary blastoma familial tumour susceptibility syndrome; pleuropulmonary blastoma family tumor susceptibility syndrome; ppb familial tumor susceptibility syndrome; ppb familial tumour susceptibility syndrome; ppbftds","Name":"DICER1-related tumor predisposition","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Adolescent","Provided_By__c":"ORPHA:284343"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:284343"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:284343"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3839822"},{"Type__c":"GTR","Curie__c":"MEDGEN:CN240512"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010734","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK196157","Source__c":"Gene Review","Xref__c":"NBK196157"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=702411003","Source__c":"C3839822; MONDO:0100216","Xref__c":"702411003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=825667","Source__c":"C3839822","Xref__c":"MEDGEN:825667"},{"URL__c":"https://www.orpha.net/en/disease/detail/284343","Source__c":"C3839822; MONDO:0100216; ORPHA:284343","Xref__c":"ORPHA:284343"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C123317","Source__c":"C3839822; MONDO:0100216","Xref__c":"C123317"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081063","Source__c":"MONDO:0100216","Xref__c":"DOID:0081063"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3839822","Source__c":"C3839822","Xref__c":"C3839822"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100216","Source__c":"GARD:0010734","Xref__c":"MONDO:0100216"},{"URL__c":"https://medlineplus.gov/genetics/condition/dicer1-syndrome","Source__c":"GARD:0010734","Xref__c":"https://medlineplus.gov/genetics/condition/dicer1-syndrome"}],"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","Genetics","Pulmonology","Pediatrics"],"Disease Category":["Cancer","Genetics","Pulmonology"],"Cause":["Genetics"]},"synonyms":["dicer1 syndrome"," dicer1-related pleuropulmonary blastoma cancer predisposition syndrome"," pleuro-pulmonary blastoma familial tumor susceptibility syndrome"," pleuro-pulmonary blastoma familial tumour susceptibility syndrome"," pleuropulmonary blastoma familial tumor and dysplasia syndrome"," pleuropulmonary blastoma familial tumor susceptibility syndrome"," pleuropulmonary blastoma familial tumour susceptibility syndrome"," pleuropulmonary blastoma family tumor susceptibility syndrome"," ppb familial tumor susceptibility syndrome"," ppb familial tumour susceptibility syndrome"," ppbftds"]}