{"Name":"Familial adenomatous polyposis 2","DiseaseID__c":"GARD:0010805","id":10805,"encodedName":"familial-adenomatous-polyposis-2","IsDeleted":false,"Disease_Name_Full__c":"Familial adenomatous polyposis 2","Xref_IDs__c":"C3272841; C563924; C96520; DOID:0080410; MEDGEN:474474; MONDO:0012041; OMIM:608456; ORPHA:247798","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012041","Disease_Description__c":"An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.","GARD_Name__c":"Familial adenomatous polyposis 2","GARD_Synonym__c":"adenomas, multiple colorectal; adenomas, multiple colorectal, autosomal recessive; colorectal adenomatous polyposis, autosomal recessive; familial adenomatous polyposis, 2; familial adenomatous polyposis, type 2; fap type 2; fap2; map; mutyh-associated polyposis; mutyh-related adenomatous polyposis; mutyh-related afap; mutyh-related attenuated familial adenomatous polyposis; mutyh-related attenuated familial polyposis coli; mutyh-related attenuated fap; myh-associated polyposis","Curated_Disease_Description_Source__c":"GARD:0010805","Curated_Disease_Description__c":"MUTYH-related attenuated familial adenomatous polyposis (also known as MYH-associated polyposis) is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type of FAP; fewer than 100 polyps typically develop, rather than hundreds or thousands. They may also be at increased risk for upper gastrointestinal polyps. MUTYH-related attenuated familial adenomatous polyposis is caused by genetic changes in the MYH gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:247798","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012041","ORPHANET_ID__c":"ORPHA:247798","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Poliposis asociada a mutyh","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"poliposis asociada a mutyh","Spanish_GARD_Synonym__c":"poliposis adenomatosa asociada a mutyh","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":"MUTYH-related attenuated familial adenomatous polyposis (also known as MYH-associated polyposis) is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer. This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type of FAP; fewer than 100 polyps typically develop, rather than hundreds or thousands. They may also be at increased risk for upper gastrointestinal polyps. MUTYH-related attenuated familial adenomatous polyposis is caused by genetic changes in the MYH gene.","Curated_Disease_Description_Source__c":"GARD:0010805","GARD_Synonym__c":"adenomas, multiple colorectal; adenomas, multiple colorectal, autosomal recessive; colorectal adenomatous polyposis, autosomal recessive; familial adenomatous polyposis, 2; familial adenomatous polyposis, type 2; fap type 2; fap2; map; mutyh-associated polyposis; mutyh-related adenomatous polyposis; mutyh-related afap; mutyh-related attenuated familial adenomatous polyposis; mutyh-related attenuated familial polyposis coli; mutyh-related attenuated fap; myh-associated polyposis","Name":"Familial adenomatous polyposis 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fight Colorectal Cancer","Website__c":"https://fightcolorectalcancer.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Colon Cancer Alliance","Website__c":"https://www.ccalliance.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":"Adult","Provided_By__c":"ORPHA:247798"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1837991"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010805","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK107219","Source__c":"Gene Review","Xref__c":"NBK107219"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563924","Source__c":"MONDO:0012041","Xref__c":"C563924"},{"URL__c":"https://www.omim.org/entry/608456","Source__c":"C3272841; MONDO:0012041; ORPHA:247798","Xref__c":"OMIM:608456"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080410","Source__c":"MONDO:0012041","Xref__c":"DOID:0080410"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C96520","Source__c":"C3272841; MONDO:0012041","Xref__c":"C96520"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3272841","Source__c":"C3272841","Xref__c":"C3272841"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=474474","Source__c":"C3272841","Xref__c":"MEDGEN:474474"},{"URL__c":"https://www.orpha.net/en/disease/detail/247798","Source__c":"C3272841; MONDO:0012041; ORPHA:247798","Xref__c":"ORPHA:247798"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012041","Source__c":"GARD:0010805","Xref__c":"MONDO:0012041"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MUTYH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mutyh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:247798","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of multiple polyps in the large intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030255","HPO_Name__c":"Large intestinal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247798","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:247798","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:247798","HPO_Frequency__c":"Excluded (0%)","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"}},{"Provided_By__c":"ORPHA:247798","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium. It can be solitary, clustered or multifocal, uni- or bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007649","HPO_Name__c":"Congenital hypertrophy of retinal pigment epithelium","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247798","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of multiple rectal hyperplastic/adenomatous polyps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100896","HPO_Synonym__c":"Multiple rectal polyps; Rectal polyps","HPO_Name__c":"Rectal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:247798","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040276","HPO_Name__c":"Adenocarcinoma of the colon","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Gastroenterology"],"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"]},"synonyms":["adenomas, multiple colorectal"," adenomas, multiple colorectal, autosomal recessive"," colorectal adenomatous polyposis, autosomal recessive"," familial adenomatous polyposis, 2"," familial adenomatous polyposis, type 2"," fap type 2"," fap2"," map"," mutyh-associated polyposis"," mutyh-related adenomatous polyposis"," mutyh-related afap"," mutyh-related attenuated familial adenomatous polyposis"," mutyh-related attenuated familial polyposis coli"," mutyh-related attenuated fap"," myh-associated polyposis"]}