{"Name":"Familial atypical multiple mole melanoma syndrome","DiseaseID__c":"GARD:0009281","id":9281,"encodedName":"familial-atypical-multiple-mole-melanoma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Familial atypical multiple mole melanoma syndrome","Xref_IDs__c":"C2314896; C27264; MEDGEN:389220; MONDO:0018453; ORPHA:404560","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"GARD:0009281","Disease_Description__c":"Familial atypical multiple mole melanoma syndrome (FAMMM syndrome) is an inherited condition characterized by the presence of multiple moles. Atypical moles, also called dysplastic nevi, are benign but are associated with an increased risk of melanoma. FAMMM syndrome may also increase the risk of pancreatic cancer in addition to melanoma. FAMMM syndrome may be caused by genetic changes in the CDKN2A gene (in about 40% of cases) or CDK4 gene (in very rare cases). However, in many cases, the cause is unknown. Inheritance is autosomal dominant. Family members of people with this condition should have surveillance at periodic intervals for melanoma.","GARD_Name__c":"Familial atypical multiple mole melanoma syndrome","GARD_Synonym__c":"b-k mole syndrome; familial atypical mole melanoma syndrome; familial atypical mole syndrome; familial atypical multiple mole melanoma-pancreatic carcinoma syndrome; familial clark nevus syndrome; familial dysplastic nevus syndrome; famm syndrome; famm-pc syndrome; fammm syndrome","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer and other malignancies.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:404560","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018453","ORPHANET_ID__c":"ORPHA:404560","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de melanoma familiar con lunares atípicos múltiples","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de melanoma familiar con lunares atípicos múltiples","Spanish_GARD_Synonym__c":"síndrome de lunar atípico familiar; síndrome de lunar b-k; síndrome de melanoma-cáncer pancreático; síndrome de nevo displásico familiar; síndrome familiar de melanoma y lunares múltiples atípicos-carcinoma pancreático; síndrome famm-pc; síndrome fammm","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":"Familial atypical multiple mole melanoma (FAMMM) syndrome is an inherited genodermatosis characterized by the presence of multiple melanocytic nevi (often >50) and a family history of melanoma as well as, in a subset of patients, an increased risk of developing pancreatic cancer and other malignancies.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"b-k mole syndrome; familial atypical mole melanoma syndrome; familial atypical mole syndrome; familial atypical multiple mole melanoma-pancreatic carcinoma syndrome; familial clark nevus syndrome; familial dysplastic nevus syndrome; famm syndrome; famm-pc syndrome; fammm syndrome","Name":"Familial atypical multiple mole melanoma syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FORCE: Facing Our Risk of Cancer Empowered","Website__c":"https://www.facingourrisk.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"American Skin Association","Website__c":"https://www.americanskin.org/"},{"Account_Name__c":"The Skin Cancer Foundation","Website__c":"https://www.skincancer.org/"},{"Account_Name__c":"Melanoma Research Foundation","Website__c":"https://www.melanoma.org/"},{"Account_Name__c":"Melanoma Research Alliance","Website__c":"https://www.curemelanoma.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":"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:404560"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009281","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/404560","Source__c":"C2314896; MONDO:0018453; ORPHA:404560","Xref__c":"ORPHA:404560"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2314896","Source__c":"C2314896","Xref__c":"C2314896"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=389220","Source__c":"C2314896","Xref__c":"MEDGEN:389220"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C27264","Source__c":"C2314896; MONDO:0018453","Xref__c":"C27264"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018453","Source__c":"GARD:0009281","Xref__c":"MONDO:0018453"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK616232/","Xref__c":"NBK616232"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CDKN2A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cdkn2a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology","Pediatrics"],"Disease Category":["Cancer","Genetics","Dermatology"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["b-k mole syndrome"," familial atypical mole melanoma syndrome"," familial atypical mole syndrome"," familial atypical multiple mole melanoma-pancreatic carcinoma syndrome"," familial clark nevus syndrome"," familial dysplastic nevus syndrome"," famm syndrome"," famm-pc syndrome"," fammm syndrome"]}