{"Name":"PTEN hamartoma tumor syndrome","DiseaseID__c":"GARD:0012800","id":12800,"encodedName":"pten-hamartoma-tumor-syndrome","IsDeleted":false,"Disease_Name_Full__c":"PTEN hamartoma tumor syndrome","Xref_IDs__c":"722859001; C179915; C1959582; DOID:0080191; MEDGEN:368366; MONDO:0017623; NBK1488; ORPHA:306498","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0017623","Disease_Description__c":"A group rare skin tumor or hamartoma diseases characterized by a germline PTEN mutation and clinical manifestations of hamartomas, overgrowth, and increased risk of neoplasia, notably breast carcinomas, epithelial thyroid carcinomas, endometrial carcinomas, renal cell carcinomas, and colorectal carcinoma. Non-malignant manifestations include macrocephaly, benign thyroid pathology (especially Hashimoto thyroiditis), mucocutaneous hamartomas, colonic polyps, and vascular malformations. Diseases in this group include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, Lhermitte-Duclos disease, and Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome.","GARD_Name__c":"PTEN hamartoma tumor syndrome","GARD_Synonym__c":"phts; pten hamartomatous tumour syndrome; pten-related hamartoma tumor syndrome","Curated_Disease_Description_Source__c":"GARD:0012800","Curated_Disease_Description__c":"PTEN hamartoma tumor syndrome refers to a spectrum of conditions that are characterized by multiple hamartomas. These conditions include: Cowden syndrome - associated with a high risk for benign and malignant (cancerous) tumors of the thyroid, breast, and uterus. Affected people may also have macrocephaly and characteristic skin abnormalities. Bannayan-Riley-Ruvalcaba syndrome - characterized by macrocephaly (large head size), hamartomas of the intestines (called hamartomatous intestinal polyps), and dark freckles on the penis. Proteus syndrome - characterized by overgrowth of the bones, skin, and other tissues. Proteus-like syndrome - people with many of the signs and symptoms associated with Proteus syndrome, but who do not meet the diagnostic criteria. PTEN hamartoma tumor syndrome is caused by changes in the PTEN gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:306498","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017623","ORPHANET_ID__c":"ORPHA:306498","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de tumor hamartoma asociado al gen pten","Spanish_Description_Source__c":"ORPHA:306498","Spanish_Description__c":"Es un grupo poco frecuente de tumores cutáneos o enfermedades hamartomatosas caracterizado por una mutación en la línea germinal del gen <i>PTEN</i> y por manifestaciones clínicas de hamartomas, sobrecrecimiento y riesgo incrementado de neoplasias, especialmente carcinomas de mama, carcinomas epiteliales de tiroides, carcinomas de endometrio, carcinomas de células renales y carcinomas colorrectales. Las manifestaciones no malignas incluyen macrocefalia, patología tiroidea benigna (especialmente tiroiditis de Hashimoto), hamartomas mucocutáneos, pólipos colónicos y malformaciones vasculares. Las enfermedades de este grupo incluyen el síndrome de Cowden, el síndrome de Bannayan-Riley-Ruvalcaba, el síndrome de Proteus-like, la enfermedad de Lhermitte-Duclos y el síndrome de excrecencia segmentaria-lipomatosis-malformación arteriovenosa-nevo epidérmico.","Spanish_Disease_Name__c":"síndrome de tumor hamartoma asociado al gen pten","Spanish_GARD_Synonym__c":"phts","Category_Linearization__c":"ORPHA:250908","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":"PTEN hamartoma tumor syndrome refers to a spectrum of conditions that are characterized by multiple hamartomas. These conditions include: Cowden syndrome - associated with a high risk for benign and malignant (cancerous) tumors of the thyroid, breast, and uterus. Affected people may also have macrocephaly and characteristic skin abnormalities. Bannayan-Riley-Ruvalcaba syndrome - characterized by macrocephaly (large head size), hamartomas of the intestines (called hamartomatous intestinal polyps), and dark freckles on the penis. Proteus syndrome - characterized by overgrowth of the bones, skin, and other tissues. Proteus-like syndrome - people with many of the signs and symptoms associated with Proteus syndrome, but who do not meet the diagnostic criteria. PTEN hamartoma tumor syndrome is caused by changes in the PTEN gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0012800","GARD_Synonym__c":"phts; pten hamartomatous tumour syndrome; pten-related hamartoma tumor syndrome","Name":"PTEN hamartoma tumor syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FORCE: Facing Our Risk of Cancer Empowered","Website__c":"https://www.facingourrisk.org/"},{"Account_Name__c":"PTEN Research Foundation Ltd","Website__c":"https://www.ptenresearch.org/"},{"Account_Name__c":"PTEN Hamartoma Tumor Syndrome Foundation","Website__c":"https://ptenfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"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":"All ages","Provided_By__c":"ORPHA:306498"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1959582"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722859001","Source__c":"C1959582; MONDO:0017623","Xref__c":"722859001"},{"URL__c":"https://www.orpha.net/en/disease/detail/306498","Source__c":"C1959582; MONDO:0017623; ORPHA:306498","Xref__c":"ORPHA:306498"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C179915","Source__c":"C1959582; MONDO:0017623","Xref__c":"C179915"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=368366","Source__c":"C1959582","Xref__c":"MEDGEN:368366"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1959582","Source__c":"C1959582","Xref__c":"C1959582"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080191","Source__c":"MONDO:0017623","Xref__c":"DOID:0080191"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017623","Source__c":"GARD:0012800","Xref__c":"MONDO:0017623"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1488","Source__c":"Gene Review","Xref__c":"NBK1488"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Dermatology","Pediatrics"],"Disease Category":["Cancer","Genetics","Dermatology","Congenital Abnormality"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["phts"," pten hamartomatous tumour syndrome"," pten-related hamartoma tumor syndrome"]}