{"Name":"Desmoplastic small round cell tumor","DiseaseID__c":"GARD:0006265","id":6265,"encodedName":"desmoplastic-small-round-cell-tumor","IsDeleted":false,"Disease_Name_Full__c":"Desmoplastic small round cell tumor","Xref_IDs__c":"1156420003; 128735004; 423022146; C0281508; C8300; D058405; DOID:6785; MEDGEN:83833; MONDO:0019373; ORPHA:83469","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019373","Disease_Description__c":"An aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.","GARD_Name__c":"Desmoplastic small round cell tumor","GARD_Synonym__c":"desmoplas. small round cell tumor; desmoplas. small round cell tumour; desmoplastic small round cell tumour; desmoplastic small round-cell neoplasm; desmoplastic small round-cell tumor; desmoplastic small round-cell tumour; dsrct; dsrct - desmoplastic small round cell tumor; polyphenotypic small round cell tumor; polyphenotypic small round cell tumour","Curated_Disease_Description_Source__c":"GARD:0006265","Curated_Disease_Description__c":"Desmoplastic small round cell tumor (DSRCT) is a rare type of soft tissue cancer (sarcoma) that usually begins in the abdomen. It primarily affects children and young adults and is more common in males. It is formed by small, round cancer cells surrounded by scar-like tissue and is often found in the tissue (peritoneum) that lines the inside of the abdomen and pelvis. The tumor cells have a characteristic genetic change involving a translocation between chromosomes 11 and 22, which is important in differentiating from other similar tumors. The genetic change involved in DSRCT is acquired throughout a person's lifetime and is not inherited. Symptoms may include abdominal pain and a feeling of fullness, abdominal mass, and symptoms of gastrointestinal obstruction, such as constipation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:83469","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019373","ORPHANET_ID__c":"ORPHA:83469","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tumor desmoplásico de células pequeñas y redondas","Spanish_Description_Source__c":"ORPHA:83469","Spanish_Description__c":"Es un cáncer agresivo de tejidos blandos que se presenta típicamente en las superficies serosas del peritoneo pélvico o abdominal, se extiende al epiplón y a los ganglios linfáticos y se difunde por vía hematógena especialmente al hígado. La localización principal extraserosa se ha descrito en casos excepcionales.","Spanish_Disease_Name__c":"tumor desmoplásico de células pequeñas y redondas","Spanish_GARD_Synonym__c":"dsrct","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":"Desmoplastic small round cell tumor (DSRCT) is a rare type of soft tissue cancer (sarcoma) that usually begins in the abdomen. It primarily affects children and young adults and is more common in males. It is formed by small, round cancer cells surrounded by scar-like tissue and is often found in the tissue (peritoneum) that lines the inside of the abdomen and pelvis. The tumor cells have a characteristic genetic change involving a translocation between chromosomes 11 and 22, which is important in differentiating from other similar tumors. The genetic change involved in DSRCT is acquired throughout a person's lifetime and is not inherited. Symptoms may include abdominal pain and a feeling of fullness, abdominal mass, and symptoms of gastrointestinal obstruction, such as constipation.","Curated_Disease_Description_Source__c":"GARD:0006265","GARD_Synonym__c":"desmoplas. small round cell tumor; desmoplas. small round cell tumour; desmoplastic small round cell tumour; desmoplastic small round-cell neoplasm; desmoplastic small round-cell tumor; desmoplastic small round-cell tumour; dsrct; dsrct - desmoplastic small round cell tumor; polyphenotypic small round cell tumor; polyphenotypic small round cell tumour","Name":"Desmoplastic small round cell tumor","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Sarcoma Foundation of America","Website__c":"https://www.curesarcoma.org/"},{"Account_Name__c":"Sarcoma Alliance","Website__c":"https://sarcomaalliance.org/"},{"Account_Name__c":"Sarcoma UK","Website__c":"https://sarcoma.org.uk/"},{"Account_Name__c":"Sarcoma Alliance for Research through Collaboration","Website__c":"https://sarctrials.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:83469"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:83469"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006265","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/83469","Source__c":"C0281508; MONDO:0019373; ORPHA:83469","Xref__c":"ORPHA:83469"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0281508","Source__c":"C0281508","Xref__c":"C0281508"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83833","Source__c":"C0281508","Xref__c":"MEDGEN:83833"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C8300","Source__c":"C0281508; MONDO:0019373","Xref__c":"C8300"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A6785","Source__c":"MONDO:0019373","Xref__c":"DOID:6785"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C058405","Source__c":"C0281508; MONDO:0019373","Xref__c":"D058405"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128735004","Source__c":"C0281508","Xref__c":"128735004"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1156420003","Source__c":"C0281508","Xref__c":"1156420003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019373","Source__c":"GARD:0006265","Xref__c":"MONDO:0019373"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022146","Xref__c":"423022146"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the peritoneum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002585","HPO_Synonym__c":"Abnormality of the peritoneum","HPO_Name__c":"Abnormal peritoneum morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Acute obstruction of the intestines preventing passage of the contents of the intestines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002595","HPO_Synonym__c":"Gastrointestinal atony","HPO_Name__c":"Ileus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002894","HPO_Synonym__c":"Neoplasia of the pancreas; Pancreatic tumor","HPO_Name__c":"Neoplasm of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Enlargement (swelling) of a lymph node.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002716","HPO_Synonym__c":"Lymph node hyperplasia; Swollen lymph nodes","HPO_Name__c":"Lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neoplasm of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100006","HPO_Synonym__c":"Neoplasm of the CNS; Tumors of the central nervous system","HPO_Name__c":"Neoplasm of the central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100242","HPO_Synonym__c":"Cancer of connective tissue; Malignant connective tissue tumor","HPO_Name__c":"Sarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004326","HPO_Synonym__c":"Wasting syndrome","HPO_Name__c":"Cachexia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100721","HPO_Synonym__c":"Swollen lymph nodes in center of chest","HPO_Name__c":"Mediastinal lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Occasional (5-29%)","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"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010788","HPO_Synonym__c":"Testicular tumor","HPO_Name__c":"Testicular neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:83469","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100615","HPO_Synonym__c":"Neoplasm of the ovaries; Neoplasm of the ovary; Ovarian tumor","HPO_Name__c":"Ovarian neoplasm","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Pediatrics"],"Disease Category":["Cancer"]},"synonyms":["desmoplas. small round cell tumor"," desmoplas. small round cell tumour"," desmoplastic small round cell tumour"," desmoplastic small round-cell neoplasm"," desmoplastic small round-cell tumor"," desmoplastic small round-cell tumour"," dsrct"," dsrct - desmoplastic small round cell tumor"," polyphenotypic small round cell tumor"," polyphenotypic small round cell tumour"]}