{"Name":"Hereditary diffuse gastric adenocarcinoma","DiseaseID__c":"GARD:0010900","id":10900,"encodedName":"hereditary-diffuse-gastric-adenocarcinoma","IsDeleted":false,"Disease_Name_Full__c":"Hereditary diffuse gastric adenocarcinoma","Xref_IDs__c":"716859000; C1708349; C43295; DOID:0080764; MEDGEN:310839; MONDO:0007648; ORPHA:26106","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007648","Disease_Description__c":"An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.","GARD_Name__c":"Hereditary diffuse gastric adenocarcinoma","GARD_Synonym__c":"diffuse gastric and lobular breast cancer syndrome; familial diffuse cancer of stomach; familial diffuse gastric cancer; fdgc; hdgc; hereditary diffuse cancer of stomach; hereditary diffuse gastric cancer","Curated_Disease_Description_Source__c":"GARD:0010900","Curated_Disease_Description__c":"Hereditary diffuse gastric cancer (HDGC) leads to an increased risk (predisposition) of developing a specific form of stomach cancer called diffuse gastric cancer. Women with HDGC also have an increased risk for lobular breast cancer. Cancers associated with HDGC generally occur at earlier ages than those seen in people who do not have a hereditary predisposition to cancer. HDGC is caused by genetic variants in the CDH1 gene and the CTNNA1 gene. It is inherited in an autosomal dominant pattern. Diagnosis of HDGC is based on the symptoms, family history, and may be confirmed by the results of genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:26106","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007648","ORPHANET_ID__c":"ORPHA:26106","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cáncer gástrico difuso hereditario","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"cáncer gástrico difuso hereditario","Spanish_GARD_Synonym__c":"adenocarcinoma gástrico difuso hereditario; cáncer de estómago difuso familiar; cáncer de estómago difuso hereditario; cáncer gástrico difuso familiar; fdgc; hdgc","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":"Hereditary diffuse gastric cancer (HDGC) leads to an increased risk (predisposition) of developing a specific form of stomach cancer called diffuse gastric cancer. Women with HDGC also have an increased risk for lobular breast cancer. Cancers associated with HDGC generally occur at earlier ages than those seen in people who do not have a hereditary predisposition to cancer. HDGC is caused by genetic variants in the CDH1 gene and the CTNNA1 gene. It is inherited in an autosomal dominant pattern. Diagnosis of HDGC is based on the symptoms, family history, and may be confirmed by the results of genetic testing.","Curated_Disease_Description_Source__c":"GARD:0010900","GARD_Synonym__c":"diffuse gastric and lobular breast cancer syndrome; familial diffuse cancer of stomach; familial diffuse gastric cancer; fdgc; hdgc; hereditary diffuse cancer of stomach; hereditary diffuse gastric cancer","Name":"Hereditary diffuse gastric adenocarcinoma","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FORCE: Facing Our Risk of Cancer Empowered","Website__c":"https://www.facingourrisk.org/"},{"Account_Name__c":"No Stomach For Cancer","Website__c":"https://www.nostomachforcancer.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Sociedad Española de Oncología Médica","Website__c":"https://www.seom.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación Mexicana de Lucha contra el Cáncer","Website__c":"https://www.amlcc.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Cancer Hope Network","Website__c":"https://www.cancerhopenetwork.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":"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:26106"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010900","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1139","Source__c":"Gene Review","Xref__c":"NBK1139"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C43295","Source__c":"MONDO:0007648","Xref__c":"C43295"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=310839","Source__c":"C1708349","Xref__c":"MEDGEN:310839"},{"URL__c":"https://www.orpha.net/en/disease/detail/26106","Source__c":"C1708349; MONDO:0007648","Xref__c":"ORPHA:26106"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1708349","Source__c":"C1708349","Xref__c":"C1708349"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716859000","Source__c":"MONDO:0007648","Xref__c":"716859000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080764","Source__c":"MONDO:0007648","Xref__c":"DOID:0080764"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007648","Source__c":"GARD:0010900","Xref__c":"MONDO:0007648"},{"URL__c":"https://medlineplus.gov/genetics/condition/hereditary-diffuse-gastric-cancer"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CDH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cdh1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Gastroenterology"],"Disease Category":["Cancer","Genetics","Gastroenterology"],"Cause":["Genetics"]},"synonyms":["diffuse gastric and lobular breast cancer syndrome"," familial diffuse cancer of stomach"," familial diffuse gastric cancer"," fdgc"," hdgc"," hereditary diffuse cancer of stomach"," hereditary diffuse gastric cancer"],"spanishId":11889,"spanishName":"cancer-gastrico-difuso-hereditario"}