{"Name":"Post-transplant lymphoproliferative disease","DiseaseID__c":"GARD:0009553","id":9553,"encodedName":"post-transplant-lymphoproliferative-disease","IsDeleted":false,"Disease_Name_Full__c":"Post-transplant lymphoproliferative disease","Xref_IDs__c":"254290004; C0432487; C4727; D47.Z1; MEDGEN:98160; MONDO:0019088; ORPHA:70568","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019088","Disease_Description__c":"Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001)","GARD_Name__c":"Post-transplant lymphoproliferative disease","GARD_Synonym__c":"lymphoproliferative disorder following transplantation; post-transplant lymphoproliferative disorder; post-transplantation lymphoproliferation; post-transplantation lymphoproliferative syndrome; ptld; ptld - post-transplant lymphoproliferative disorder","Curated_Disease_Description_Source__c":"GARD:0009553","Curated_Disease_Description__c":"Post-transplant lymphoproliferative disease (PTLD) is a complication of transplantation in which there is uncontrolled growth of lymphocytes. It occurs in people whose immune systems have been intentionally suppressed due to having a solid organ transplant or hematopoietic stem cell transplant. The severity of PTLD can range from causing a mild, noncancerous (benign) overgrowth of tissue, to causing a life-threatening, cancerous (malignant) form of lymphoma. Common symptoms are often vague, such as feeling unwell (malaise), fever, weight loss, night sweats, fatigue, and swollen lymph nodes. Additional symptoms depend on the organs or body part(s) affected. The digestive tract, central nervous system, and/or transplanted organ are often involved. PTLD is often caused by Epstein-Barr virus (EBV), which infects lymphocytes called B-cells. Most people get EBV in childhood, but the virus becomes \"inactive\" because the immune system keeps it under control. In people with PTLD due to EBV, a weakened immune system may allow EBV to reactivate in infected B-cells, leading to their uncontrolled growth. In some cases, EBV from the transplant donor is reactivated in the recipient. PTLD can also occur if a recipient first becomes infected with EBV after the transplant. The reason that PTLD develops in people without EBV is not clear. PTLD is diagnosed by immunophenotyping a biopsy of an involved lymph node or other affected tissue. Additional tests such as blood tests, imaging tests, or bone marrow biopsy may be needed to determine the location(s) and extent of the disease in the body.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:70568","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019088","ORPHANET_ID__c":"ORPHA:70568","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad linfoproliferativa post-trasplante","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad linfoproliferativa post-trasplante","Spanish_GARD_Synonym__c":null,"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":"Post-transplant lymphoproliferative disease (PTLD) is a complication of transplantation in which there is uncontrolled growth of lymphocytes. It occurs in people whose immune systems have been intentionally suppressed due to having a solid organ transplant or hematopoietic stem cell transplant. The severity of PTLD can range from causing a mild, noncancerous (benign) overgrowth of tissue, to causing a life-threatening, cancerous (malignant) form of lymphoma. Common symptoms are often vague, such as feeling unwell (malaise), fever, weight loss, night sweats, fatigue, and swollen lymph nodes. Additional symptoms depend on the organs or body part(s) affected. The digestive tract, central nervous system, and/or transplanted organ are often involved. PTLD is often caused by Epstein-Barr virus (EBV), which infects lymphocytes called B-cells. Most people get EBV in childhood, but the virus becomes \"inactive\" because the immune system keeps it under control. In people with PTLD due to EBV, a weakened immune system may allow EBV to reactivate in infected B-cells, leading to their uncontrolled growth. In some cases, EBV from the transplant donor is reactivated in the recipient. PTLD can also occur if a recipient first becomes infected with EBV after the transplant. The reason that PTLD develops in people without EBV is not clear. PTLD is diagnosed by immunophenotyping a biopsy of an involved lymph node or other affected tissue. Additional tests such as blood tests, imaging tests, or bone marrow biopsy may be needed to determine the location(s) and extent of the disease in the body.","Curated_Disease_Description_Source__c":"GARD:0009553","GARD_Synonym__c":"lymphoproliferative disorder following transplantation; post-transplant lymphoproliferative disorder; post-transplantation lymphoproliferation; post-transplantation lymphoproliferative syndrome; ptld; ptld - post-transplant lymphoproliferative disorder","Name":"Post-transplant lymphoproliferative disease","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Blood Cancer United","Website__c":"https://bloodcancerunited.org/"},{"Account_Name__c":"Lymphoma Action","Website__c":"https://lymphoma-action.org.uk"}],"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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:70568"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432487","Source__c":"C0432487","Xref__c":"C0432487"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98160","Source__c":"C0432487","Xref__c":"MEDGEN:98160"},{"URL__c":"https://www.orpha.net/en/disease/detail/70568","Source__c":"C0432487; MONDO:0019088; ORPHA:70568","Xref__c":"ORPHA:70568"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254290004","Source__c":"C0432487; MONDO:0019088","Xref__c":"254290004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4727","Source__c":"C0432487; MONDO:0019088","Xref__c":"C4727"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019088","Source__c":"GARD:0009553","Xref__c":"MONDO:0019088"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D47.Z1","Source__c":"MONDO:0019088","Xref__c":"D47.Z1"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1155771008","Source__c":"C0432487","Xref__c":"1155771008"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:70568","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001608","HPO_Synonym__c":"Abnormality of the voice; Voice abnormality","HPO_Name__c":"Abnormality of the voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70568","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Occurrence of excessive sweating during sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030166","HPO_Synonym__c":"Night sweats; Nocturnal hyperhidrosis","HPO_Name__c":"Night sweats","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70568","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced desire to eat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004396","HPO_Synonym__c":"Decreased appetite; Loss of appetite; Poor appetite","HPO_Name__c":"Poor appetite","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70568","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70568","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70568","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033608","HPO_Synonym__c":"Spot on the lung","HPO_Name__c":"Pulmonary nodule","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:70568","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A feeling of general discomfort, weakness, or lack of health.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033834","HPO_Name__c":"Malaise","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70568","HPO_Frequency__c":"Occasional (5-29%)","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:70568","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025267","HPO_Synonym__c":"Snore; Snores; Snoring symptoms","HPO_Name__c":"Snoring","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70568","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70568","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70568","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033050","HPO_Synonym__c":"Pharyngodynia; Sore throat; Throat discomfort; Throat pain","HPO_Name__c":"Pharyngalgia","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70568","HPO_Frequency__c":"Frequent (30-79%)","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:70568","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of albumin in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003073","HPO_Synonym__c":"Decreased albumin concentration; Decreased albumin level; Decreased albumin level in blood; Decreased circulating abumin concentration; Hypoalbuminaemia; Hypoalbuminemia; Low blood albumin; Reduced albumin concentration; Reduced albumin level; Reduced albumin level in blood","HPO_Name__c":"Hypoalbuminemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:70568","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:70568","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"]},"synonyms":["lymphoproliferative disorder following transplantation"," post-transplant lymphoproliferative disorder"," post-transplantation lymphoproliferation"," post-transplantation lymphoproliferative syndrome"," ptld"," ptld - post-transplant lymphoproliferative disorder"]}