{"Name":"Tenosynovial giant cell tumor, diffuse type","DiseaseID__c":"GARD:0007396","id":7396,"encodedName":"tenosynovial-giant-cell-tumor-diffuse-type","IsDeleted":false,"Disease_Name_Full__c":"Tenosynovial giant cell tumor, diffuse type","Xref_IDs__c":"95412009; C0039106; C3401; D013586; DOID:2702; DOID:9898; M12.2; MEDGEN:11691; MONDO:0024686; ORPHA:66627","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":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":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0024686","Disease_Description__c":"A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion.","GARD_Name__c":"Tenosynovial giant cell tumor, diffuse type","GARD_Synonym__c":"diffuse giant cell neoplasm of tendon sheath; diffuse giant cell neoplasm of tenosynovium; diffuse giant cell neoplasm of the tenosynovium; diffuse giant cell tumor of tendon sheath; diffuse giant cell tumor of tenosynovium; diffuse giant cell tumor of the tenosynovium; diffuse giant cell tumour of tendon sheath; diffuse giant cell tumour of tenosynovium; diffuse giant cell tumour of the tenosynovium; diffuse tenosynovial giant cell neoplasm; diffuse tenosynovial giant cell tumor; diffuse tenosynovial giant cell tumor of uncertain behavior; diffuse tenosynovial giant cell tumour; diffuse-type gct; diffuse-type giant cell tumor; pigmented villonodular synovitis; tenosynovial giant cell tumor; tenosynovial giant cell tumor, diffuse; tgct; tsgct; villous tenosynovitis","Curated_Disease_Description_Source__c":"GARD:0007396","Curated_Disease_Description__c":"Tenosynovial giant cell tumor is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally. It is characterized by a noncancerous mass or tumor. There are two types of Tenosynovial giant cell tumor: the local or nodular form (where the tumor involves the tendons that support the joint, or in one area of the joint) and the diffuse form (where the entire lining of the joint is involved). Symptoms might include: pain, limitation of movement, and locking of the joint. In some cases, the normal joint structure can be destroyed. The knee is most commonly affected by this condition, though it can occur in other joints such as the hip, shoulder, elbow, ankle, wrist, and rarely the jaw. The cause of Tenosynovial giant cell tumor is unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:66627","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0024686","ORPHANET_ID__c":"ORPHA:66627","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tumor tenosinovial de células gigantes","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"tumor tenosinovial de células gigantes","Spanish_GARD_Synonym__c":"tcg tipo difuso; tgct; tsgct; tumor de células gigantes tipo difuso","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":"Tenosynovial giant cell tumor is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally. It is characterized by a noncancerous mass or tumor. There are two types of Tenosynovial giant cell tumor: the local or nodular form (where the tumor involves the tendons that support the joint, or in one area of the joint) and the diffuse form (where the entire lining of the joint is involved). Symptoms might include: pain, limitation of movement, and locking of the joint. In some cases, the normal joint structure can be destroyed. The knee is most commonly affected by this condition, though it can occur in other joints such as the hip, shoulder, elbow, ankle, wrist, and rarely the jaw. The cause of Tenosynovial giant cell tumor is unknown.","Curated_Disease_Description_Source__c":"GARD:0007396","GARD_Synonym__c":"diffuse giant cell neoplasm of tendon sheath; diffuse giant cell neoplasm of tenosynovium; diffuse giant cell neoplasm of the tenosynovium; diffuse giant cell tumor of tendon sheath; diffuse giant cell tumor of tenosynovium; diffuse giant cell tumor of the tenosynovium; diffuse giant cell tumour of tendon sheath; diffuse giant cell tumour of tenosynovium; diffuse giant cell tumour of the tenosynovium; diffuse tenosynovial giant cell neoplasm; diffuse tenosynovial giant cell tumor; diffuse tenosynovial giant cell tumor of uncertain behavior; diffuse tenosynovial giant cell tumour; diffuse-type gct; diffuse-type giant cell tumor; pigmented villonodular synovitis; tenosynovial giant cell tumor; tenosynovial giant cell tumor, diffuse; tgct; tsgct; villous tenosynovitis","Name":"Tenosynovial giant cell tumor, diffuse type","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"TGCT Support","Website__c":"https://www.tgctsupport.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":"Childhood","Provided_By__c":"ORPHA:66627"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:66627"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:66627"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3401","Source__c":"C0039106; MONDO:0024686","Xref__c":"C3401"},{"URL__c":"https://www.orpha.net/en/disease/detail/66627","Source__c":"C0039106; MONDO:0024686","Xref__c":"ORPHA:66627"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=95412009","Source__c":"MONDO:0024686","Xref__c":"95412009"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/M12.2","Source__c":"MONDO:0024686","Xref__c":"M12.2"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2702","Source__c":"MONDO:0024686","Xref__c":"DOID:2702"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=11691","Source__c":"C0039106","Xref__c":"MEDGEN:11691"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0039106","Source__c":"C0039106","Xref__c":"C0039106"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C013586","Source__c":"C0039106; MONDO:0024686","Xref__c":"D013586"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9898","Source__c":"MONDO:0024686","Xref__c":"DOID:9898"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703703002","Source__c":"C0039106","Xref__c":"703703002"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1295265008","Source__c":"C0039106","Xref__c":"1295265008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0024686","Source__c":"GARD:0007396","Xref__c":"MONDO:0024686"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hemorrhage occurring within a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005261","HPO_Synonym__c":"Bleeding within a joint; Hemarthroses; Hemarthrosis; Joint hemorrhage; Spontaneous joint hemorrhage","HPO_Name__c":"Joint hemorrhage","Feature_System__c":"Musculoskeletal System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint that connects the foot with the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003028","HPO_Synonym__c":"Abnormality of the ankles","HPO_Name__c":"Abnormality of the ankle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the wrist, the structure connecting the hand and the forearm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003019","HPO_Synonym__c":"Abnormalities of the wrists; Abnormality of the wrist","HPO_Name__c":"Abnormality of the wrist","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the external acoustic tube (also known as the auditory canal).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000372","HPO_Synonym__c":"Abnormality of the auditory canal; Auditory canal abnormality","HPO_Name__c":"Abnormal auditory canal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002797","HPO_Synonym__c":"Breakdown of bone; Increased bone resorption; Osteolytic defects of bones","HPO_Name__c":"Osteolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009911","HPO_Synonym__c":"Abnormality of the temporal bone","HPO_Name__c":"Abnormal temporal bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001003","HPO_Name__c":"Multiple lentigines","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005195","HPO_Name__c":"Polyarticular arthropathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003043","HPO_Synonym__c":"Abnormality of the shoulder","HPO_Name__c":"Abnormal shoulder morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005186","HPO_Synonym__c":"Synovial hyperplasia; Synovial hypertrophy","HPO_Name__c":"Synovial lining hyperplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040161","HPO_Name__c":"Localized osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031520","HPO_Name__c":"Groin pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001384","HPO_Synonym__c":"Abnormality of the hip joint","HPO_Name__c":"Abnormal hip joint morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001004","HPO_Synonym__c":"Lymphatic obstruction; 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Abnormality of the tympanic membrane","HPO_Name__c":"Abnormal tympanic membrane morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:66627","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the knee joint or surrounding structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002815","HPO_Synonym__c":"Abnormality of the knee","HPO_Name__c":"Abnormality of the knee","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Pediatrics"],"Disease Category":["Cancer"]},"synonyms":["diffuse giant cell neoplasm of tendon sheath"," diffuse giant cell neoplasm of tenosynovium"," diffuse giant cell neoplasm of the tenosynovium"," diffuse giant cell tumor of tendon sheath"," diffuse giant cell tumor of tenosynovium"," diffuse giant cell tumor of the tenosynovium"," diffuse giant cell tumour of tendon sheath"," diffuse giant cell tumour of tenosynovium"," diffuse giant cell tumour of the tenosynovium"," diffuse tenosynovial giant cell neoplasm"," diffuse tenosynovial giant cell tumor"," diffuse tenosynovial giant cell tumor of uncertain behavior"," diffuse tenosynovial giant cell tumour"," diffuse-type gct"," diffuse-type giant cell tumor"," pigmented villonodular synovitis"," tenosynovial giant cell tumor"," tenosynovial giant cell tumor, diffuse"," tgct"," tsgct"," villous tenosynovitis"]}