{"Name":"Small cell lung carcinoma","DiseaseID__c":"GARD:0009344","id":9344,"encodedName":"small-cell-lung-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Small cell lung carcinoma","Xref_IDs__c":"254632001; 423022320; C0149925; C4917; D055752; DOID:5409; DOID:5411; HP:0030357; MEDGEN:57450; MONDO:0008433; OMIM:182280; ORPHA:70573","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008433","Disease_Description__c":"Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized by rapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.","GARD_Name__c":"Small cell lung carcinoma","GARD_Synonym__c":"lung oat cell carcinoma; lung small cell carcinoma; lung small cell neuroendocrine carcinoma; oat cell carcinoma of lung; oat cell carcinoma of the lung; oat cell lung cancer; oat cell lung carcinoma; sclc; sclc - small cell lung cancer; small cell cancer of the lung, somatic; small cell carcinoma of lung; small cell carcinoma of the lung; small cell lung cancer; small cell neuroendocrine carcinoma of lung; small cell neuroendocrine carcinoma of the lung; small-cell cancer of lung","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor. Lung cancer may not cause signs or symptoms in its early stages. Some people with lung cancer have chest pain, frequent coughing, blood in the mucus, breathing problems, trouble swallowing or speaking, loss of appetite and weight loss, fatigue, or swelling in the face or neck. Additional symptoms can develop if the cancer spreads (metastasizes) into other tissues. Lung cancer occurs most often in adults in their sixties or seventies. Most people who develop lung cancer have a history of long-term tobacco smoking; however, the condition can occur in people who have never smoked. Lung cancer is generally divided into two types, small cell lung cancer and non-small cell lung cancer, based on the size of the affected cells when viewed under a microscope. Non-small cell lung cancer accounts for 85 percent of lung cancer, while small cell lung cancer accounts for the remaining 15 percent. Small cell lung cancer grows quickly and in more than half of cases the cancer has spread beyond the lung by the time the condition is diagnosed. Small cell lung cancer often metastasizes, most commonly to the liver, brain, bones, and  adrenal glands (small hormone-producing glands located on top of each kidney). After diagnosis, most people with small cell lung cancer survive for about 1 year; less than seven percent survive 5 years. Non-small cell lung cancer is divided into three main subtypes: adenocarcinoma, squamous cell carcinoma, and large cell lung carcinoma. Adenocarcinoma arises from the cells that line the small air sacs (alveoli) located throughout the lungs. Squamous cell carcinoma arises from squamous cells that line the passages leading from the windpipe (trachea) to the lungs (bronchi). Large cell carcinoma arises from epithelial cells that line the lungs. Large cell carcinoma encompasses non-small cell lung cancers that do not appear to be adenocarcinomas or squamous cell carcinomas. The 5-year survival rate for people with non-small cell lung cancer is usually between 11 and 17 percent; it can be lower or higher depending on the subtype and stage of the cancer.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:70573","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008433","ORPHANET_ID__c":"ORPHA:70573","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cáncer de pulmón de células pequeñas","Spanish_Description_Source__c":"ORPHA:70573","Spanish_Description__c":"Es una neoplasia maligna muy agresiva que representa el 10-15% de los casos de cáncer de pulmón caracterizada por un crecimiento rápido y metástasis temprana. Este tipo de cáncer se manifiesta generalmente como una gran masa hiliar con linfadenopatías mediastínicas voluminosas que se presenta clínicamente con dolor torácico, tos persistente, disnea, sibilancias, ronquera, hemoptisis, pérdida de apetito y de peso y síndromes paraneoplásicos neurológicos y endocrinos. Esta neoplasia se ha descrito principalmente en personas de edad avanzada con antecedentes de larga exposición al tabaco.","Spanish_Disease_Name__c":"cáncer de pulmón de células pequeñas","Spanish_GARD_Synonym__c":"cpcp; cáncer de pulmón microcítico","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":"Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor. Lung cancer may not cause signs or symptoms in its early stages. Some people with lung cancer have chest pain, frequent coughing, blood in the mucus, breathing problems, trouble swallowing or speaking, loss of appetite and weight loss, fatigue, or swelling in the face or neck. Additional symptoms can develop if the cancer spreads (metastasizes) into other tissues. Lung cancer occurs most often in adults in their sixties or seventies. Most people who develop lung cancer have a history of long-term tobacco smoking; however, the condition can occur in people who have never smoked. Lung cancer is generally divided into two types, small cell lung cancer and non-small cell lung cancer, based on the size of the affected cells when viewed under a microscope. Non-small cell lung cancer accounts for 85 percent of lung cancer, while small cell lung cancer accounts for the remaining 15 percent. Small cell lung cancer grows quickly and in more than half of cases the cancer has spread beyond the lung by the time the condition is diagnosed. Small cell lung cancer often metastasizes, most commonly to the liver, brain, bones, and  adrenal glands (small hormone-producing glands located on top of each kidney). After diagnosis, most people with small cell lung cancer survive for about 1 year; less than seven percent survive 5 years. Non-small cell lung cancer is divided into three main subtypes: adenocarcinoma, squamous cell carcinoma, and large cell lung carcinoma. Adenocarcinoma arises from the cells that line the small air sacs (alveoli) located throughout the lungs. Squamous cell carcinoma arises from squamous cells that line the passages leading from the windpipe (trachea) to the lungs (bronchi). Large cell carcinoma arises from epithelial cells that line the lungs. Large cell carcinoma encompasses non-small cell lung cancers that do not appear to be adenocarcinomas or squamous cell carcinomas. The 5-year survival rate for people with non-small cell lung cancer is usually between 11 and 17 percent; it can be lower or higher depending on the subtype and stage of the cancer.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"lung oat cell carcinoma; lung small cell carcinoma; lung small cell neuroendocrine carcinoma; oat cell carcinoma of lung; oat cell carcinoma of the lung; oat cell lung cancer; oat cell lung carcinoma; sclc; sclc - small cell lung cancer; small cell cancer of the lung, somatic; small cell carcinoma of lung; small cell carcinoma of the lung; small cell lung cancer; small cell neuroendocrine carcinoma of lung; small cell neuroendocrine carcinoma of the lung; small-cell cancer of lung","Name":"Small cell lung carcinoma","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"GO2 Foundation for Lung Cancer","Website__c":"https://go2.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Neuroendocrine Tumor Research Foundation","Website__c":"https://netrf.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":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:70573"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009344","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254632001","Source__c":"C0149925; MONDO:0008433","Xref__c":"254632001"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5409","Source__c":"MONDO:0008433","Xref__c":"DOID:5409"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C055752","Source__c":"C0149925; MONDO:0008433","Xref__c":"D055752"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57450","Source__c":"C0149925","Xref__c":"MEDGEN:57450"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0149925","Source__c":"C0149925","Xref__c":"C0149925"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5411","Source__c":"MONDO:0008433","Xref__c":"DOID:5411"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4917","Source__c":"C0149925; MONDO:0008433","Xref__c":"C4917"},{"URL__c":"https://www.orpha.net/en/disease/detail/70573","Source__c":"C0149925; MONDO:0008433; ORPHA:70573","Xref__c":"ORPHA:70573"},{"URL__c":"https://www.omim.org/entry/182280","Source__c":"C0149925; MONDO:0008433; ORPHA:70573","Xref__c":"OMIM:182280"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030357","Source__c":"C0149925","Xref__c":"HP:0030357"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008433","Source__c":"GARD:0009344","Xref__c":"MONDO:0008433"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022320","Xref__c":"423022320"},{"URL__c":"https://www.cancer.gov/types/lung"},{"URL__c":"https://www.cancer.gov/types/lung/patient/small-cell-lung-treatment-pdq"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:182280","Feature__r":{"HPO_Description__c":"Tumor of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100526","HPO_Synonym__c":"Lung tumor","HPO_Name__c":"Neoplasm of the lung","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Pulmonology"],"Disease Category":["Cancer","Pulmonology"]},"synonyms":["lung oat cell carcinoma"," lung small cell carcinoma"," lung small cell neuroendocrine carcinoma"," oat cell carcinoma of lung"," oat cell carcinoma of the lung"," oat cell lung cancer"," oat cell lung carcinoma"," sclc"," sclc - small cell lung cancer"," small cell cancer of the lung, somatic"," small cell carcinoma of lung"," small cell carcinoma of the lung"," small cell lung cancer"," small cell neuroendocrine carcinoma of lung"," small cell neuroendocrine carcinoma of the lung"," small-cell cancer of lung"]}