{"Name":"Kaposi sarcoma","DiseaseID__c":"GARD:0006814","id":6814,"encodedName":"kaposi-sarcoma","IsDeleted":false,"Disease_Name_Full__c":"Kaposi sarcoma","Xref_IDs__c":"109385007; 1179374007; C0036220; C46; C9087; D012514; DOID:8632; MEDGEN:11321; MONDO:0005055; ORPHA:33276","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0005055","Disease_Description__c":"A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).","GARD_Name__c":"Kaposi sarcoma","GARD_Synonym__c":"kaposi's sarcoma; kaposi's sarcoma (clinical); kaposi's sarcoma (disease); kaposi's sarcoma of conjunctiva; kaposi's sarcoma of cornea; kaposi's sarcoma of lung; kaposi's sarcoma of palate; kaposi's sarcoma of soft tissue; kaposi's sarcoma of soft tissues; ks; ks - kaposi's sarcoma; mediterranean kaposi sarcoma; multiple hemorrhagic sarcoma","Curated_Disease_Description_Source__c":"GARD:0006814","Curated_Disease_Description__c":"Kaposi sarcoma (KS) is a cancer that develops from the cells that line lymph or blood vessels. It usually appears as tumors on the skin or on mucosal surfaces such as inside the mouth, but tumors can also develop in other parts of the body (including the lymph nodes, lungs, or digestive tract). The abnormal cells of Kaposi sarcoma cause purplish, reddish blue, or dark brown/black skin lesions (macules, nodules, plaques) on the legs and the face. These lesions may look bad, but they usually cause no symptoms. However, when the lesions are in the lungs, liver, or digestive tract, they may cause serious problems like gastrointestinal bleeding or trouble breathing. Kaposi sarcoma is caused by infection with a virus called the Kaposi sarcoma associated herpesvirus (KSHV), also known as human herpesvirus 8 (HHV8). Kaposi sarcoma is classified into four types based upon the different populations in which it develops: classic (which presents in middle or old age), endemic (described in sub-Saharan indigenous Africans), iatrogenic (associated with immunosuppressive drug therapy) and AIDS-associated (epidemic KS).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:33276","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0005055","ORPHANET_ID__c":"ORPHA:33276","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sarcoma de kaposi","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"sarcoma de kaposi","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":"Kaposi sarcoma (KS) is a cancer that develops from the cells that line lymph or blood vessels. It usually appears as tumors on the skin or on mucosal surfaces such as inside the mouth, but tumors can also develop in other parts of the body (including the lymph nodes, lungs, or digestive tract). The abnormal cells of Kaposi sarcoma cause purplish, reddish blue, or dark brown/black skin lesions (macules, nodules, plaques) on the legs and the face. These lesions may look bad, but they usually cause no symptoms. However, when the lesions are in the lungs, liver, or digestive tract, they may cause serious problems like gastrointestinal bleeding or trouble breathing. Kaposi sarcoma is caused by infection with a virus called the Kaposi sarcoma associated herpesvirus (KSHV), also known as human herpesvirus 8 (HHV8). Kaposi sarcoma is classified into four types based upon the different populations in which it develops: classic (which presents in middle or old age), endemic (described in sub-Saharan indigenous Africans), iatrogenic (associated with immunosuppressive drug therapy) and AIDS-associated (epidemic KS).","Curated_Disease_Description_Source__c":"GARD:0006814","GARD_Synonym__c":"kaposi's sarcoma; kaposi's sarcoma (clinical); kaposi's sarcoma (disease); kaposi's sarcoma of conjunctiva; kaposi's sarcoma of cornea; kaposi's sarcoma of lung; kaposi's sarcoma of palate; kaposi's sarcoma of soft tissue; kaposi's sarcoma of soft tissues; ks; ks - kaposi's sarcoma; mediterranean kaposi sarcoma; multiple hemorrhagic sarcoma","Name":"Kaposi sarcoma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Sarcoma UK","Website__c":"https://sarcoma.org.uk/"},{"Account_Name__c":"National Organization of Vascular Anomalies","Website__c":"https://www.novanews.org/"},{"Account_Name__c":"The Skin Cancer Foundation","Website__c":"https://www.skincancer.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:33276"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0036220"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/33276","Source__c":"C0036220; MONDO:0005055; ORPHA:33276","Xref__c":"ORPHA:33276"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C012514","Source__c":"C0036220; MONDO:0005055","Xref__c":"D012514"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=109385007","Source__c":"C0036220; MONDO:0005055","Xref__c":"109385007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8632","Source__c":"MONDO:0005055","Xref__c":"DOID:8632"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C9087","Source__c":"C0036220; MONDO:0005055","Xref__c":"C9087"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=11321","Source__c":"C0036220","Xref__c":"MEDGEN:11321"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0036220","Source__c":"C0036220","Xref__c":"C0036220"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C46","Source__c":"MONDO:0005055","Xref__c":"C46"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1179374007","Source__c":"C0036220","Xref__c":"1179374007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0005055","Source__c":"GARD:0006814","Xref__c":"MONDO:0005055"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100726","Source__c":"C0036220","Xref__c":"HP:0100726"},{"URL__c":"https://www.cancer.gov/types/soft-tissue-sarcoma/patient/kaposi-treatment-pdq"},{"URL__c":"https://medlineplus.gov/kaposisarcoma.html"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200035","HPO_Name__c":"Skin plaque","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005293","HPO_Synonym__c":"Poorly functioning veins","HPO_Name__c":"Venous insufficiency","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001028","HPO_Synonym__c":"Strawberry mark","HPO_Name__c":"Hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A generalized form of lymphadenopathy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008940","HPO_Synonym__c":"Generalized swelling of lymph nodes; Swollen lymph nodes affecting all regions of the body","HPO_Name__c":"Generalized lymphadenopathy","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Occasional (5-29%)","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:33276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200036","HPO_Synonym__c":"Growth of abnormal tissue on or under the skin","HPO_Name__c":"Skin nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012733","HPO_Synonym__c":"Flat, discolored area of skin","HPO_Name__c":"Macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the lung.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002088","HPO_Synonym__c":"Abnormality of lung structure; Abnormality of the lungs; Abnormally shaped lung; Unusual lung shape","HPO_Name__c":"Abnormal lung morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002814","HPO_Synonym__c":"Abnormality of the leg; Abnormality of the lower limb; Lower limb deformities","HPO_Name__c":"Abnormality of the lower limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Occasional (5-29%)","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:33276","HPO_Frequency__c":"Occasional (5-29%)","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:33276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001743","HPO_Synonym__c":"Abnormality of the spleen","HPO_Name__c":"Abnormality of the spleen","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001034","HPO_Synonym__c":"Hyperpigmented macules; Hyperpigmented spots","HPO_Name__c":"Hypermelanotic macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005353","HPO_Synonym__c":"Susceptibility to herpesvirus","HPO_Name__c":"Recurrent herpes","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","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; Lymphoedema; Onset of lymphedema around puberty; Swelling caused by excess lymph fluid under skin","HPO_Name__c":"Lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000479","HPO_Synonym__c":"Abnormal retina; Abnormality of the retina; Anomaly of the retina; Retina issue","HPO_Name__c":"Abnormal retinal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011024","HPO_Synonym__c":"Abnormality of the gastrointestinal tract; Abnormality of the GI tract","HPO_Name__c":"Abnormality of the gastrointestinal tract","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001298","HPO_Name__c":"Encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","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:33276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001392","HPO_Synonym__c":"Abnormal liver; Abnormality of the liver; Liver abnormality","HPO_Name__c":"Abnormality of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005523","HPO_Name__c":"Lymphoproliferative disorder","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neoplasm categorized according to the anatomical site of origin of the neoplasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011793","HPO_Name__c":"Neoplasm by anatomical site","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Vascular Medicine"],"Disease Category":["Cancer","Congenital Abnormality"]},"synonyms":["kaposi's sarcoma"," kaposi's sarcoma (clinical)"," kaposi's sarcoma (disease)"," kaposi's sarcoma of conjunctiva"," kaposi's sarcoma of cornea"," kaposi's sarcoma of lung"," kaposi's sarcoma of palate"," kaposi's sarcoma of soft tissue"," kaposi's sarcoma of soft tissues"," ks"," ks - kaposi's sarcoma"," mediterranean kaposi sarcoma"," multiple hemorrhagic sarcoma"]}