{"Name":"Hereditary mixed polyposis syndrome","DiseaseID__c":"GARD:0016981","id":16981,"encodedName":"hereditary-mixed-polyposis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hereditary mixed polyposis syndrome","Xref_IDs__c":"787410005; C5192681; C563365; DOID:0111684; MEDGEN:1672870; MONDO:0011023; OMIMPS:601228; ORPHA:157794","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011023","Disease_Description__c":"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.","GARD_Name__c":"Hereditary mixed polyposis syndrome","GARD_Synonym__c":"hereditary mixed polyposis; hmps; hmps - hereditary mixed polyposis syndrome","Curated_Disease_Description_Source__c":"MONDO:0011023","Curated_Disease_Description__c":"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:157794","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011023","ORPHANET_ID__c":"ORPHA:157794","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de poliposis mixta hereditaria","Spanish_Description_Source__c":"ORPHA:157794","Spanish_Description__c":"El síndrome de poliposis mixta hereditaria (HMPS) describe una enfermedad hereditaria autosómica dominante del intestino grueso que se caracteriza por la presencia de una mezcla de pólipos hiperplásicos, juveniles atípicos y adenomatosos que están asociados con un incremento del riesgo de desarrollar cáncer colorrectal si no son tratados.","Spanish_Disease_Name__c":"síndrome de poliposis mixta hereditaria","Spanish_GARD_Synonym__c":"hmps","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":"Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.","Curated_Disease_Description_Source__c":"MONDO:0011023","GARD_Synonym__c":"hereditary mixed polyposis; hmps; hmps - hereditary mixed polyposis syndrome","Name":"Hereditary mixed polyposis syndrome","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:157794"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS601228","Source__c":"MONDO:0011023","Xref__c":"OMIMPS:601228"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1672870","Source__c":"C5192681","Xref__c":"MEDGEN:1672870"},{"URL__c":"https://www.orpha.net/en/disease/detail/157794","Source__c":"C5192681; MONDO:0011023; ORPHA:157794","Xref__c":"ORPHA:157794"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563365","Source__c":"MONDO:0011023","Xref__c":"C563365"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5192681","Source__c":"C5192681","Xref__c":"C5192681"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111684","Source__c":"MONDO:0011023","Xref__c":"DOID:0111684"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011023","Source__c":"GARD:0016981","Xref__c":"MONDO:0011023"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=787410005","Source__c":"C5192681","Xref__c":"787410005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GREM1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"BMPR1A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/bmpr1a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:157794","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:157794","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:157794","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002890","HPO_Name__c":"Thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157794","HPO_Frequency__c":"Uncommon (<1-4%)","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:157794","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002576","HPO_Name__c":"Intussusception","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157794","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"}},{"Provided_By__c":"ORPHA:157794","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:157794","HPO_Frequency__c":"Uncommon (<1-4%)","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:157794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012198","HPO_Name__c":"Juvenile colonic polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007378","HPO_Synonym__c":"Gastrointestinal tract neoplasia; Gastrointestinal tract neoplasm; Gastrointestinal tract tumor; GI tract tumor; Neoplasm of the GI tract","HPO_Name__c":"Neoplasm of the gastrointestinal tract","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157794","HPO_Frequency__c":"Occasional (5-29%)","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:157794","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157794","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002573","HPO_Synonym__c":"Rectal bleeding","HPO_Name__c":"Hematochezia","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157794","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012183","HPO_Name__c":"Hyperplastic colonic polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157794","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005505","HPO_Name__c":"Refractory anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157794","HPO_Frequency__c":"Frequent (30-79%)","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:157794","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:157794","HPO_Frequency__c":"Uncommon (<1-4%)","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Gastroenterology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology"]},"synonyms":["hereditary mixed polyposis"," hmps"," hmps - hereditary mixed polyposis syndrome"]}