{"Name":"Hyperplastic polyposis syndrome","DiseaseID__c":"GARD:0016982","id":16982,"encodedName":"hyperplastic-polyposis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hyperplastic polyposis syndrome","Xref_IDs__c":"763536006; C165469; C4296896; MEDGEN:1645454; MONDO:0015524; ORPHA:157798","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015524","Disease_Description__c":"A rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.","GARD_Name__c":"Hyperplastic polyposis syndrome","GARD_Synonym__c":"serrated polyposis; serrated polyposis syndrome","Curated_Disease_Description_Source__c":"MONDO:0015524","Curated_Disease_Description__c":"A rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:157798","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015524","ORPHANET_ID__c":"ORPHA:157798","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de poliposis serrada","Spanish_Description_Source__c":"ORPHA:157798","Spanish_Description__c":"Es una enfermedad intestinal genética y poco frecuente que se caracteriza por la presencia de múltiples pólipos colorrectales hiperplásicos/serrados (generalmente grandes), de distribución habitualmente pancolónica. La histología revela pólipos hiperplásicos, adenomas serrados sésiles (los más comunes), adenomas serrados tradicionales o pólipos mixtos. Se asocia con un mayor riesgo individual y familiar (parientes de primer grado) de cáncer colorrectal.","Spanish_Disease_Name__c":"síndrome de poliposis serrada","Spanish_GARD_Synonym__c":"síndrome de poliposis hiperplásica","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":"A rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.","Curated_Disease_Description_Source__c":"MONDO:0015524","GARD_Synonym__c":"serrated polyposis; serrated polyposis syndrome","Name":"Hyperplastic polyposis syndrome","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"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:157798"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:157798"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4296896","Source__c":"C4296896","Xref__c":"C4296896"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C165469","Source__c":"C4296896; MONDO:0015524","Xref__c":"C165469"},{"URL__c":"https://www.orpha.net/en/disease/detail/157798","Source__c":"C4296896; MONDO:0015524; ORPHA:157798","Xref__c":"ORPHA:157798"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1645454","Source__c":"C4296896","Xref__c":"MEDGEN:1645454"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763536006","Source__c":"C4296896; MONDO:0015524","Xref__c":"763536006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015524","Source__c":"GARD:0016982","Xref__c":"MONDO:0015524"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RNF43","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:157798","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the biliary system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100574","HPO_Name__c":"Biliary tract neoplasm","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157798","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100728","HPO_Name__c":"Germ cell neoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157798","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100834","HPO_Synonym__c":"Large intestine tumor","HPO_Name__c":"Neoplasm of the large intestine","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157798","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An outpouching of the gastric wall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100808","HPO_Synonym__c":"Stomach diverticulum","HPO_Name__c":"Gastric diverticulum","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157798","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A benign nerve sheath tumor composed of Schwann cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100008","HPO_Synonym__c":"Neurilemmoma; Neurinoma; Neurolemmoma; Schwann cell tumor","HPO_Name__c":"Schwannoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157798","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012189","HPO_Synonym__c":"Hodgkin disease; Hodgkin's lymphoma","HPO_Name__c":"Hodgkin lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157798","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002862","HPO_Name__c":"Bladder carcinoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157798","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200063","HPO_Synonym__c":"Colorectal polyps","HPO_Name__c":"Colorectal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157798","HPO_Frequency__c":"Uncommon (<1-4%)","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:157798","HPO_Frequency__c":"Uncommon (<1-4%)","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:157798","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:157798","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100615","HPO_Synonym__c":"Neoplasm of the ovaries; Neoplasm of the ovary; Ovarian tumor","HPO_Name__c":"Ovarian neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157798","HPO_Frequency__c":"Frequent (30-79%)","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:157798","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A cancer of the prostate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012125","HPO_Synonym__c":"Prostatic cancer","HPO_Name__c":"Prostate cancer","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Gastroenterology"],"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"]},"synonyms":["serrated polyposis"," serrated polyposis syndrome"]}