{"Name":"Oligodontia-cancer predisposition syndrome","DiseaseID__c":"GARD:0017376","id":17376,"encodedName":"oligodontia-cancer-predisposition-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Oligodontia-cancer predisposition syndrome","Xref_IDs__c":"C1837750; C563898; MEDGEN:324868; MONDO:0012075","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":0,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:300576","Disease_Description__c":"Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated.","GARD_Name__c":"Oligodontia-cancer predisposition syndrome","GARD_Synonym__c":"autosomal dominant ectodermal dysplasia-cancer predisposition syndrome; odcrcs; oligodontia-colorectal cancer syndrome; tooth agenesis-colorectal cancer syndrome","Curated_Disease_Description_Source__c":"ORPHA:300576","Curated_Disease_Description__c":"This rare genetic dental disease is marked by having six or more permanent teeth missing from birth, not counting the wisdom teeth. Because these teeth never develop, people can have large gaps in their smile and problems with chewing and jaw alignment. Along with the missing teeth, there is an increased chance of developing cancers, especially in the digestive tract, such as polyps in the intestines or colorectal cancer that starts at a young age, and breast cancer. Some people also have features of ectodermal dysplasia, a group of findings that can include sparse hair on the scalp and thin or missing eyebrows. These signs suggest that structures made from the outer layer of early embryo cells, such as teeth, hair, and certain glands, can all be affected.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:300576","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012075","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":"This rare genetic dental disease is marked by having six or more permanent teeth missing from birth, not counting the wisdom teeth. Because these teeth never develop, people can have large gaps in their smile and problems with chewing and jaw alignment. Along with the missing teeth, there is an increased chance of developing cancers, especially in the digestive tract, such as polyps in the intestines or colorectal cancer that starts at a young age, and breast cancer. Some people also have features of ectodermal dysplasia, a group of findings that can include sparse hair on the scalp and thin or missing eyebrows. These signs suggest that structures made from the outer layer of early embryo cells, such as teeth, hair, and certain glands, can all be affected.","Curated_Disease_Description_Source__c":"ORPHA:300576","GARD_Synonym__c":"autosomal dominant ectodermal dysplasia-cancer predisposition syndrome; odcrcs; oligodontia-colorectal cancer syndrome; tooth agenesis-colorectal cancer syndrome","Name":"Oligodontia-cancer predisposition syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FORCE: Facing Our Risk of Cancer Empowered","Website__c":"https://www.facingourrisk.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324868","Source__c":"C1837750","Xref__c":"MEDGEN:324868"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837750","Source__c":"C1837750","Xref__c":"C1837750"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563898","Source__c":"MONDO:0012075","Xref__c":"C563898"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012075","Source__c":"GARD:0017376","Xref__c":"MONDO:0012075"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AXIN2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{},"synonyms":["autosomal dominant ectodermal dysplasia-cancer predisposition syndrome"," odcrcs"," oligodontia-colorectal cancer syndrome"," tooth agenesis-colorectal cancer syndrome"]}