{"Name":"Kaposiform hemangioendothelioma","DiseaseID__c":"GARD:0003077","id":3077,"encodedName":"kaposiform-hemangioendothelioma","IsDeleted":false,"Disease_Name_Full__c":"Kaposiform hemangioendothelioma","Xref_IDs__c":"403983000; C1367420; C27510; C537007; MEDGEN:234548; MONDO:0016236; ORPHA:2122","USA_Estimate__c":null,"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":null,"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:0016236","Disease_Description__c":"A rare low-grade malignant cutaneous or visceral vascular tumour that may be associated with severe thrombopaenia with consumption coagulopathy (Kasabach-Merritt syndrome) in pediatric patients.","GARD_Name__c":"Kaposiform hemangioendothelioma","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0016236","Curated_Disease_Description__c":"A rare low-grade malignant cutaneous or visceral vascular tumour that may be associated with severe thrombopaenia with consumption coagulopathy (Kasabach-Merritt syndrome) in pediatric patients.","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:2122","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016236","ORPHANET_ID__c":"ORPHA:2122","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemangioendotelioma kaposiforme","Spanish_Description_Source__c":"ORPHA:2122","Spanish_Description__c":"Es un tumor vascular cutáneo o visceral maligno de bajo grado poco frecuente que puede asociarse a una trombopenia grave con coagulopatía de consumo (síndrome de Kasabach-Merritt) en pacientes pediátricos.","Spanish_Disease_Name__c":"hemangioendotelioma kaposiforme","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98028","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":"A rare low-grade malignant cutaneous or visceral vascular tumour that may be associated with severe thrombopaenia with consumption coagulopathy (Kasabach-Merritt syndrome) in pediatric patients.","Curated_Disease_Description_Source__c":"MONDO:0016236","Name":"Kaposiform hemangioendothelioma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Organization of Vascular Anomalies","Website__c":"https://www.novanews.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Sarcoma Alliance","Website__c":"https://sarcomaalliance.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2122"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003077","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403983000","Source__c":"C1367420; MONDO:0016236","Xref__c":"403983000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C27510","Source__c":"C1367420; MONDO:0016236","Xref__c":"C27510"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1367420","Source__c":"C1367420","Xref__c":"C1367420"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537007","Source__c":"MONDO:0016236","Xref__c":"C537007"},{"URL__c":"https://www.orpha.net/en/disease/detail/2122","Source__c":"C1367420; MONDO:0016236; ORPHA:2122","Xref__c":"ORPHA:2122"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=234548","Source__c":"C1367420","Xref__c":"MEDGEN:234548"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016236","Source__c":"GARD:0003077","Xref__c":"MONDO:0016236"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNA14","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000967","HPO_Name__c":"Petechiae","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005520","HPO_Synonym__c":"Chronic consumption coagulopathy; Compensated disseminated intravascular coagulation","HPO_Name__c":"Chronic disseminated intravascular coagulation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2122","HPO_Frequency__c":"Frequent (30-79%)","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:2122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001937","HPO_Name__c":"Microangiopathic hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000979","HPO_Synonym__c":"Red or purple spots on the skin","HPO_Name__c":"Purpura","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2122","HPO_Frequency__c":"Frequent (30-79%)","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:2122","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrichosis is increased hair growth that is abnormal in quantity or location.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000998","HPO_Name__c":"Hypertrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2122","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased concentration of fibrinogen in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011900","HPO_Synonym__c":"Low fibrinogen activity; Low fibrinogen level","HPO_Name__c":"Hypofibrinogenemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2122","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033106","HPO_Synonym__c":"Elevated D-dimers; Elevated fibrin degradation fragment concentration","HPO_Name__c":"Elevated circulating D-dimer concentration","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2122","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Vascular Medicine","Pediatrics"],"Disease Category":["Cancer","Congenital Abnormality"]},"synonyms":[""]}