{"Name":"Tumor predisposition syndrome 3","DiseaseID__c":"GARD:0018582","id":18582,"encodedName":"tumor-predisposition-syndrome-3","IsDeleted":false,"Disease_Name_Full__c":"Tumor predisposition syndrome 3","Xref_IDs__c":"C4014476; MEDGEN:862913; MONDO:0014368; OMIM:615848","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:615848","Disease_Description__c":"A number sign (#) is used with this entry because susceptibility to cutaneous malignant melanoma-10 (CMM10) is conferred by heterozygous mutation in the POT1 gene ({606478}) on chromosome 7q31.\\n\\nMutation in the POT1 gene can also caused glioma susceptibility-9 (GLM9; {616568}).\\n\\nFor a discussion of genetic heterogeneity of cutaneous malignant melanoma (CMM), see {155600}.","GARD_Name__c":"Tumor predisposition syndrome 3","GARD_Synonym__c":"cmm10; glioma susceptibility 9; glioma susceptibility type 9; glm9; long telomere syndrome, pot1-related; malignant glioma caused by mutation in pot1; melanoma, cutaneous malignant, susceptibility to, 10; melanoma, cutaneous malignant, susceptibility to, type 10; pot1 tumor predisposition; pot1-related tumor predisposition syndrome; pot1-tpd; tpds3","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Susceptibility to cutaneous malignant melanoma 10 (CMM10) is a genetic condition. This condition is characterized by an increased risk of developing various benign (non-cancerous) and malignant (cancerous) tumors. This includes a type of skin cancer called melanoma. The risk of developing these tumors increases as a person gets older. While tumors typically appear in adulthood, they can sometimes develop during childhood. The types of tumors can affect different parts of the body. This includes the skin, connective tissue, nerves, and blood. Additionally, this condition is characterized by having cells that live longer than usual. This may cause the cells to accumulate changes that potentially lead to cancer. CMM10 is caused by a mutation to the POT1 gene. This condition is inherited in an autosomal dominant pattern. This means single copy of the mutated gene is sufficient to cause the disorder. Not everyone who inherits the mutated POT1 gene will develop symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:615848","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014368","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":"Susceptibility to cutaneous malignant melanoma 10 (CMM10) is a genetic condition. This condition is characterized by an increased risk of developing various benign (non-cancerous) and malignant (cancerous) tumors. This includes a type of skin cancer called melanoma. The risk of developing these tumors increases as a person gets older. While tumors typically appear in adulthood, they can sometimes develop during childhood. The types of tumors can affect different parts of the body. This includes the skin, connective tissue, nerves, and blood. Additionally, this condition is characterized by having cells that live longer than usual. This may cause the cells to accumulate changes that potentially lead to cancer. CMM10 is caused by a mutation to the POT1 gene. This condition is inherited in an autosomal dominant pattern. This means single copy of the mutated gene is sufficient to cause the disorder. Not everyone who inherits the mutated POT1 gene will develop symptoms.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"cmm10; glioma susceptibility 9; glioma susceptibility type 9; glm9; long telomere syndrome, pot1-related; malignant glioma caused by mutation in pot1; melanoma, cutaneous malignant, susceptibility to, 10; melanoma, cutaneous malignant, susceptibility to, type 10; pot1 tumor predisposition; pot1-related tumor predisposition syndrome; pot1-tpd; tpds3","Name":"Tumor predisposition syndrome 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.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/"},{"Account_Name__c":"The Skin Cancer Foundation","Website__c":"https://www.skincancer.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK563529","Source__c":"Gene Review","Xref__c":"NBK563529"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=862913","Source__c":"C4014476","Xref__c":"MEDGEN:862913"},{"URL__c":"https://www.omim.org/entry/615848","Source__c":"C4014476; MONDO:0014368","Xref__c":"OMIM:615848"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4014476","Source__c":"C4014476","Xref__c":"C4014476"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014368","Source__c":"GARD:0018582","Xref__c":"MONDO:0014368"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"POT1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615848","Feature__r":{"HPO_Description__c":"The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002861","HPO_Synonym__c":"Malignant melanoma","HPO_Name__c":"Melanoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615848","Feature__r":{"HPO_Description__c":"Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100245","HPO_Synonym__c":"Desmoid tumors","HPO_Name__c":"Gastrointestinal desmoid tumor","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["cmm10"," glioma susceptibility 9"," glioma susceptibility type 9"," glm9"," long telomere syndrome, pot1-related"," malignant glioma caused by mutation in pot1"," melanoma, cutaneous malignant, susceptibility to, 10"," melanoma, cutaneous malignant, susceptibility to, type 10"," pot1 tumor predisposition"," pot1-related tumor predisposition syndrome"," pot1-tpd"," tpds3"]}