{"Name":"Peutz-Jeghers syndrome","DiseaseID__c":"GARD:0007378","id":7378,"encodedName":"peutz-jeghers-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Peutz-Jeghers syndrome","Xref_IDs__c":"54411001; C0031269; C3324; D010580; DOID:3852; MEDGEN:18404; MONDO:0008280; NBK1266; OMIM:175200; ORPHA:2869","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008280","Disease_Description__c":"A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.","GARD_Name__c":"Peutz-Jeghers syndrome","GARD_Synonym__c":"colonic hamartomatous polyp; gastric peutz-jeghers polyp; hamartomatous intestinal polyposis; jeghers-peutz syndrome; perioral lentiginosis; periorificial lentiginosis syndrome; peutz jeghers colon polyp; peutz jeghers syndrome; peutz-jeghers polyp of small intestine; peutz-jeghers polyposis; peutz-jeghers small bowel hamartoma; peutz's syndrome; pjs; pjs - peutz-jeghers syndrome; polyposis, hamartomatous intestinal; polyps and spots syndrome; polyps-and-spots syndrome; stk11-related peutz-jeghers syndrome","Curated_Disease_Description_Source__c":"GARD:0007378","Curated_Disease_Description__c":"Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain. People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:2869","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008280","ORPHANET_ID__c":"ORPHA:2869","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de peutz-jeghers","Spanish_Description_Source__c":"ORPHA:2869","Spanish_Description__c":"Es un síndrome de poliposis intestinal de origen genético caracterizado por el desarrollo de pólipos hamar-tomatosos característicos en el tracto gastrointestinal (GI) y pigmentación mucocutánea. Este trastorno aumenta considerablemente el riesgo de neoplasias malignas tanto GI como extra-GI.","Spanish_Disease_Name__c":"síndrome de peutz-jeghers","Spanish_GARD_Synonym__c":"pjs; poliposis intestinal hamartomatosa","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":"Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips, around and inside the mouth, near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older. In addition, most people with Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain. People with Peutz-Jeghers syndrome have a high risk of developing cancer during their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, and breast are among the most commonly reported tumors.","Curated_Disease_Description_Source__c":"GARD:0007378","GARD_Synonym__c":"colonic hamartomatous polyp; gastric peutz-jeghers polyp; hamartomatous intestinal polyposis; jeghers-peutz syndrome; perioral lentiginosis; periorificial lentiginosis syndrome; peutz jeghers colon polyp; peutz jeghers syndrome; peutz-jeghers polyp of small intestine; peutz-jeghers polyposis; peutz-jeghers small bowel hamartoma; peutz's syndrome; pjs; pjs - peutz-jeghers syndrome; polyposis, hamartomatous intestinal; polyps and spots syndrome; polyps-and-spots syndrome; stk11-related peutz-jeghers syndrome","Name":"Peutz-Jeghers syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FORCE: Facing Our Risk of Cancer Empowered","Website__c":"https://www.facingourrisk.org/"},{"Account_Name__c":"Smart Patients","Website__c":"https://www.smartpatients.com/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2869"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2869"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2869"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0031269"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007378","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1266","Source__c":"Gene Review","Xref__c":"NBK1266"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=54411001","Source__c":"C0031269; MONDO:0008280","Xref__c":"54411001"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3852","Source__c":"MONDO:0008280","Xref__c":"DOID:3852"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C010580","Source__c":"C0031269; MONDO:0008280","Xref__c":"D010580"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0031269","Source__c":"C0031269","Xref__c":"C0031269"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=18404","Source__c":"C0031269","Xref__c":"MEDGEN:18404"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3324","Source__c":"C0031269; MONDO:0008280","Xref__c":"C3324"},{"URL__c":"https://www.omim.org/entry/175200","Source__c":"C0031269; MONDO:0008280; ORPHA:2869","Xref__c":"OMIM:175200"},{"URL__c":"https://www.orpha.net/en/disease/detail/2869","Source__c":"C0031269; MONDO:0008280; ORPHA:2869","Xref__c":"ORPHA:2869"},{"URL__c":"https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome","Source__c":"GARD:0007378","Xref__c":"https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008280","Source__c":"GARD:0007378","Xref__c":"MONDO:0008280"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"STK11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/stk11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor of the uterine cervix.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030079","HPO_Name__c":"Cervix cancer","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of many cysts in the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005562","HPO_Synonym__c":"Multiple kidney cysts","HPO_Name__c":"Multiple renal cysts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cancer arising in any part of the stomach.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012126","HPO_Synonym__c":"Gastric cancer","HPO_Name__c":"Stomach cancer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2869","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:2869","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011024","HPO_Synonym__c":"Abnormality of the gastrointestinal tract; 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The ureter is the duct by which urine passes from the kidney to the bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000069","HPO_Synonym__c":"Abnormality of the ureters; Ureter issue; Ureteral anomalies","HPO_Name__c":"Abnormality of the ureter","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2869","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002086","HPO_Synonym__c":"Respiratory abnormality","HPO_Name__c":"Abnormality of the respiratory system","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Gastroenterology","Dermatology","Pediatrics"],"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Dermatology","Congenital Abnormality"],"Account":["Dermatology"]},"synonyms":["colonic hamartomatous polyp"," gastric peutz-jeghers polyp"," hamartomatous intestinal polyposis"," jeghers-peutz syndrome"," perioral lentiginosis"," periorificial lentiginosis syndrome"," peutz jeghers colon polyp"," peutz jeghers syndrome"," peutz-jeghers polyp of small intestine"," peutz-jeghers polyposis"," peutz-jeghers small bowel hamartoma"," peutz's syndrome"," pjs"," pjs - peutz-jeghers syndrome"," polyposis, hamartomatous intestinal"," polyps and spots syndrome"," polyps-and-spots syndrome"," stk11-related peutz-jeghers syndrome"]}