{"Name":"Subcutaneous panniculitis-like T-cell lymphoma","DiseaseID__c":"GARD:0010193","id":10193,"encodedName":"subcutaneous-panniculitis-like-t-cell-lymphoma","IsDeleted":false,"Disease_Name_Full__c":"Subcutaneous panniculitis-like T-cell lymphoma","Xref_IDs__c":"103682005; 404133000; C0522624; C537503; C6918; C86.3; HP:0034403; MEDGEN:99306; MONDO:0019475; OMIM:618398; ORPHA:86884","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019475","Disease_Description__c":"A rare cytotoxic cutaneous alpha-beta T-cell lymphoma characterized by solitary or multiple erythematous subcutaneous nodules and plaques that can be localized to the lower extremities or generalized. It has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue and often associated with hemophagocytic lymphohistiocytosis.","GARD_Name__c":"Subcutaneous panniculitis-like T-cell lymphoma","GARD_Synonym__c":"sptcl; subcutaneous panniculitic cutaneous t-cell lymphoma; subcutaneous panniculitic t-cell lymphoma; subcutaneous panniculitis-like t-cell lymphoma (alpha/beta type); subcutaneous panniculitis-like t-cell lymphoma, alpha/beta type","Curated_Disease_Description_Source__c":"GARD:0010193","Curated_Disease_Description__c":"Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare type of lymphoma that mainly affects the skin. Lymphomas are cancers that result from a type of white blood cell that grows out of control. In SPTCL, people develop multiple painless nodules in the fat layer under the skin and can these cause swelling. This is known as panniculitis. The cause of this type of cancer is unknown, but genetic factors may be involved. It can be diagnosed by a skin biopsy of the affected area.","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:86884","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019475","ORPHANET_ID__c":"ORPHA:86884","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Linfoma subcutáneo de células t similar a paniculitis","Spanish_Description_Source__c":"ORPHA:86884","Spanish_Description__c":"El linfoma subcutáneo de células T similar a la paniculitis (SPTCL, por sus siglas en inglés) es un linfoma cutáneo citotóxico poco frecuente que se ha reconocido como un subconjunto distinto de los linfomas de células T periféricos que se originan y se presentan principalmente en el tejido adiposo subcutáneo.","Spanish_Disease_Name__c":"linfoma subcutáneo de células t similar a paniculitis","Spanish_GARD_Synonym__c":"linfoma de células t subcutáneo paniculítico; linfoma subcutáneo de células t paniculitis-like; sptcl","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":"Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare type of lymphoma that mainly affects the skin. Lymphomas are cancers that result from a type of white blood cell that grows out of control. In SPTCL, people develop multiple painless nodules in the fat layer under the skin and can these cause swelling. This is known as panniculitis. The cause of this type of cancer is unknown, but genetic factors may be involved. It can be diagnosed by a skin biopsy of the affected area.","Curated_Disease_Description_Source__c":"GARD:0010193","GARD_Synonym__c":"sptcl; subcutaneous panniculitic cutaneous t-cell lymphoma; subcutaneous panniculitic t-cell lymphoma; subcutaneous panniculitis-like t-cell lymphoma (alpha/beta type); subcutaneous panniculitis-like t-cell lymphoma, alpha/beta type","Name":"Subcutaneous panniculitis-like T-cell lymphoma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Lymphoma Research Foundation","Website__c":"https://lymphoma.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Blood Cancer United","Website__c":"https://bloodcancerunited.org/"},{"Account_Name__c":"Cancer Support Community","Website__c":"https://www.cancersupportcommunity.org/"},{"Account_Name__c":"Lymphoma Coalition","Website__c":"https://lymphomacoalition.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":"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":"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:86884"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010193","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537503","Source__c":"MONDO:0019475","Xref__c":"C537503"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C86.3","Source__c":"MONDO:0019475","Xref__c":"C86.3"},{"URL__c":"https://www.omim.org/entry/618398","Source__c":"C0522624; MONDO:0019475; ORPHA:86884","Xref__c":"OMIM:618398"},{"URL__c":"https://www.orpha.net/en/disease/detail/86884","Source__c":"C0522624; MONDO:0019475; ORPHA:86884","Xref__c":"ORPHA:86884"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=99306","Source__c":"C0522624","Xref__c":"MEDGEN:99306"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=404133000","Source__c":"C0522624; MONDO:0019475","Xref__c":"404133000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0522624","Source__c":"C0522624","Xref__c":"C0522624"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C6918","Source__c":"C0522624; MONDO:0019475","Xref__c":"C6918"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019475","Source__c":"GARD:0010193","Xref__c":"MONDO:0019475"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0034403","Source__c":"C0522624","Xref__c":"HP:0034403"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=103682005","Source__c":"C0522624","Xref__c":"103682005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HAVCR2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:86884","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:86884","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:86884","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003256","HPO_Synonym__c":"Coagulopathy","HPO_Name__c":"Abnormality of the coagulation cascade","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86884","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sudden sensation of feeling cold.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025143","HPO_Synonym__c":"Chills","HPO_Name__c":"Chills","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86884","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030350","HPO_Name__c":"Erythematous papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86884","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86884","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012156","HPO_Name__c":"Hemophagocytosis","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86884","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86884","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of subcutaneous adipose tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012490","HPO_Synonym__c":"Inflammation of adipose tissue; Inflammation of fat tissue","HPO_Name__c":"Panniculitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86884","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025474","HPO_Name__c":"Erythematous plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86884","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Dermatology","Hematology","Pediatrics"],"Disease Category":["Cancer","Dermatology","Hematology"],"Account":["Dermatology"]},"synonyms":["sptcl"," subcutaneous panniculitic cutaneous t-cell lymphoma"," subcutaneous panniculitic t-cell lymphoma"," subcutaneous panniculitis-like t-cell lymphoma (alpha/beta type)"," subcutaneous panniculitis-like t-cell lymphoma, alpha/beta type"]}