{"Name":"Wilms tumor 2","DiseaseID__c":"GARD:0008559","id":8559,"encodedName":"wilms-tumor-2","IsDeleted":false,"Disease_Name_Full__c":"Wilms tumor 2","Xref_IDs__c":"C3887743; C536853; MEDGEN:854562; MONDO:0008680; OMIM:194071","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:194071","Disease_Description__c":"A number sign (#) is used with this entry because of evidence that Wilms tumor-2 (WT2) is caused by mutation of the H19/IGF2-imprinting control region (ICR1; {616186}) on chromosome 11p15. ICR1 controls imprinted expression of H19 ({103280}) and IGF2 ({147470}).\\n\\nICR1 and a neighboring imprinted gene cluster are implicated in Beckwith-Wiedemann syndrome (BWS; {130650}), of which Wilms tumor is a common feature.\\n\\nFor a general phenotypic description and discussion of genetic heterogeneity of Wilms tumor, see WT1 ({194070}).","GARD_Name__c":"Wilms tumor 2","GARD_Synonym__c":"familial wilms tumor 2; wilms tumor 2, autosomal dominant, somatic mutation; wilms tumor type 2; wilms tumour 2, autosomal dominant, somatic mutation; wilms tumour type 2; wt2","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Wilms tumor 2 is a type of kidney cancer that mainly affects children. It is caused by a change in the imprinting control region  on chromosome 11p15. Genomic imprinting is a DNA mechanism that helps control how certain genes are turned on and off.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:194071","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008680","ORPHANET_ID__c":null,"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":null,"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":"Wilms tumor 2 is a type of kidney cancer that mainly affects children. It is caused by a change in the imprinting control region  on chromosome 11p15. Genomic imprinting is a DNA mechanism that helps control how certain genes are turned on and off.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"familial wilms tumor 2; wilms tumor 2, autosomal dominant, somatic mutation; wilms tumor type 2; wilms tumour 2, autosomal dominant, somatic mutation; wilms tumour type 2; wt2","Name":"Wilms tumor 2","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008559","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1294","Source__c":"Gene Review","Xref__c":"NBK1294"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536853","Source__c":"MONDO:0008680","Xref__c":"C536853"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=854562","Source__c":"C3887743","Xref__c":"MEDGEN:854562"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3887743","Source__c":"C3887743","Xref__c":"C3887743"},{"URL__c":"https://www.omim.org/entry/194071","Source__c":"C3887743; MONDO:0008680","Xref__c":"OMIM:194071"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008680","Source__c":"GARD:0008559","Xref__c":"MONDO:0008680"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:194071","Feature__r":{"HPO_Description__c":"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002667","HPO_Synonym__c":"Wilms tumor","HPO_Name__c":"Nephroblastoma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Cancer"]},"synonyms":["familial wilms tumor 2"," wilms tumor 2, autosomal dominant, somatic mutation"," wilms tumor type 2"," wilms tumour 2, autosomal dominant, somatic mutation"," wilms tumour type 2"," wt2"]}