{"Name":"Familial adenomatous polyposis 3","DiseaseID__c":"GARD:0017790","id":17790,"encodedName":"familial-adenomatous-polyposis-3","IsDeleted":false,"Disease_Name_Full__c":"Familial adenomatous polyposis 3","Xref_IDs__c":"C4225157; DOID:0080411; MEDGEN:902388; MONDO:0014630; OMIM:616415; ORPHA:454840","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":2,"Description_Source__c":"ORPHA:454840","Disease_Description__c":null,"GARD_Name__c":"Familial adenomatous polyposis 3","GARD_Synonym__c":"familial adenomatous polyposis type 3; fap3; nthl1-related adenomatous polyposis and colorectal cancer; nthl1-related afap; nthl1-related attenuated familial adenomatous polyposis; nthl1-related attenuated fap","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"NTHL1-related attenuated familial adenomatous polyposis (NTHL1-related AFAP), is a genetic condition. It is characterized by an increased risk for developing colorectal cancer and breast cancer. NTHL1-related AFAP also increases risk of multiple polyps or growths in the gastrointestinal tract. Additional cancers reported in people with this condition include endometrial cancer, cervical cancer, and bladder cancer. People may also have cancers of the brain and central nervous system, basal cell carcinoma, and cancers of the blood. Cancers most commonly occur in middle age or later adulthood. NTHL1-related AFAP is inherited in an autosomal recessive pattern. This means two copies of the mutated gene are required to cause the disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:454840","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014630","ORPHANET_ID__c":"ORPHA:454840","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Poliposis asociada a nthl1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"poliposis asociada a nthl1","Spanish_GARD_Synonym__c":"poliposis adenomatosa asociada a nthl1","Category_Linearization__c":"ORPHA:97935","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":"NTHL1-related attenuated familial adenomatous polyposis (NTHL1-related AFAP), is a genetic condition. It is characterized by an increased risk for developing colorectal cancer and breast cancer. NTHL1-related AFAP also increases risk of multiple polyps or growths in the gastrointestinal tract. Additional cancers reported in people with this condition include endometrial cancer, cervical cancer, and bladder cancer. People may also have cancers of the brain and central nervous system, basal cell carcinoma, and cancers of the blood. Cancers most commonly occur in middle age or later adulthood. NTHL1-related AFAP is inherited in an autosomal recessive pattern. This means two copies of the mutated gene are required to cause the disease.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"familial adenomatous polyposis type 3; fap3; nthl1-related adenomatous polyposis and colorectal cancer; nthl1-related afap; nthl1-related attenuated familial adenomatous polyposis; nthl1-related attenuated fap","Name":"Familial adenomatous polyposis 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FORCE: Facing Our Risk of Cancer Empowered","Website__c":"https://www.facingourrisk.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:454840"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:454840"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK555473","Source__c":"Gene Review","Xref__c":"NBK555473"},{"URL__c":"https://www.omim.org/entry/616415","Source__c":"C4225157; MONDO:0014630; ORPHA:454840","Xref__c":"OMIM:616415"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080411","Source__c":"MONDO:0014630","Xref__c":"DOID:0080411"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=902388","Source__c":"C4225157","Xref__c":"MEDGEN:902388"},{"URL__c":"https://www.orpha.net/en/disease/detail/454840","Source__c":"C4225157; MONDO:0014630; ORPHA:454840","Xref__c":"ORPHA:454840"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225157","Source__c":"C4225157","Xref__c":"C4225157"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014630","Source__c":"GARD:0017790","Xref__c":"MONDO:0014630"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NTHL1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of squamous cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002860","HPO_Name__c":"Squamous cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009725","HPO_Synonym__c":"Bladder cancer","HPO_Name__c":"Bladder neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100743","HPO_Synonym__c":"Rectal tumor","HPO_Name__c":"Neoplasm of the rectum","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of one or more cysts of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000138","HPO_Synonym__c":"Cystic abnormalities of the ovaries; Cystic ovaries; Ovarian cyst; Ovarian cystic abnormality","HPO_Name__c":"Ovarian cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003002","HPO_Synonym__c":"Breast cancer","HPO_Name__c":"Breast carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A malignant epithelial tumor with a glandular organization that originates in the duodenum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006771","HPO_Name__c":"Duodenal adenocarcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031287","HPO_Synonym__c":"Basal cell papilloma; Seborrheic verruca; Senile wart","HPO_Name__c":"Seborrheic keratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a basal cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002671","HPO_Synonym__c":"Basal cell carcinomas; Basal cell epithelioma; Basal cell nevus; Basalioma","HPO_Name__c":"Basal cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012539","HPO_Name__c":"Non-Hodgkin lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an adenocarcinoma of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006725","HPO_Name__c":"Pancreatic adenocarcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of multiple adenomatous polyps in the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005227","HPO_Synonym__c":"Multiple adenomatous colon polyps; Multiple colonic adenomatous polyps","HPO_Name__c":"Adenomatous colonic polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A carcinoma of the endometrium, the mucous lining of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012114","HPO_Name__c":"Endometrial carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003003","HPO_Synonym__c":"Colon cancer","HPO_Name__c":"Colon cancer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454840","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002858","HPO_Name__c":"Meningioma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Gastroenterology"],"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"]},"synonyms":["familial adenomatous polyposis type 3"," fap3"," nthl1-related adenomatous polyposis and colorectal cancer"," nthl1-related afap"," nthl1-related attenuated familial adenomatous polyposis"," nthl1-related attenuated fap"]}