{"Name":"Kasabach-Merritt syndrome","DiseaseID__c":"GARD:0000070","id":70,"encodedName":"kasabach-merritt-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Kasabach-Merritt syndrome","Xref_IDs__c":"86635005; C0221025; C3821; D059885; MEDGEN:65122; MONDO:0007708; OMIM:141000; ORPHA:2330","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":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007708","Disease_Description__c":"A rare hemorrhagic disorder characterized by potentially life-threatening thrombocytopenia, microangiopathic hemolytic anemia, and consumptive coagulopathy in the context of kaposiform hemangioendothelioma or tufted angioma.","GARD_Name__c":"Kasabach-Merritt syndrome","GARD_Synonym__c":"hemangioma thrombocytopenia syndrome; hemangioma-hemorrhage syndrome; hemangioma-thrombocytopenia syndrome; hemangiomatosis with thrombocytopenia; kasabach merritt phenomenon; kasabach merritt syndrome; kasabach-merritt phenomenon; thrombocytopenia-hemangioma syndrome; thrombopenia-hemangioma syndrome","Curated_Disease_Description_Source__c":"GARD:0000070","Curated_Disease_Description__c":"Kasabach-Merritt syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas. The profound thrombocytopenia can cause severe bleeding and progress to a disseminated coagulopathy in patients with these tumors.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2330","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007708","ORPHANET_ID__c":"ORPHA:2330","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Fenómeno de kasabach-merritt","Spanish_Description_Source__c":"ORPHA:2330","Spanish_Description__c":"Es un trastorno hemorrágico poco frecuente caracterizado por trombocitopenia potencialmente mortal, anemia hemolítica microangiopática y coagulopatía por consumo en el contexto de un hemangioendotelioma kaposiforme o de un angioma en penacho.","Spanish_Disease_Name__c":"fenómeno de kasabach-merritt","Spanish_GARD_Synonym__c":"síndrome de hemangioma-trombocitopenia; síndrome de kasabach-merritt","Category_Linearization__c":"ORPHA:97992","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":"Kasabach-Merritt syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors: kaposiform hemangioendotheliomas and tufted angiomas. The profound thrombocytopenia can cause severe bleeding and progress to a disseminated coagulopathy in patients with these tumors.","Curated_Disease_Description_Source__c":"GARD:0000070","GARD_Synonym__c":"hemangioma thrombocytopenia syndrome; hemangioma-hemorrhage syndrome; hemangioma-thrombocytopenia syndrome; hemangiomatosis with thrombocytopenia; kasabach merritt phenomenon; kasabach merritt syndrome; kasabach-merritt phenomenon; thrombocytopenia-hemangioma syndrome; thrombopenia-hemangioma syndrome","Name":"Kasabach-Merritt syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Organization of Vascular Anomalies","Website__c":"https://www.novanews.org/"}],"GARD_Disease_Tag__c":[{"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":"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":"Infancy","Provided_By__c":"ORPHA:2330"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2330"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2330","Source__c":"C0221025; MONDO:0007708; ORPHA:2330","Xref__c":"ORPHA:2330"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C059885","Source__c":"C0221025; MONDO:0007708","Xref__c":"D059885"},{"URL__c":"https://www.omim.org/entry/141000","Source__c":"C0221025; MONDO:0007708; ORPHA:2330","Xref__c":"OMIM:141000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3821","Source__c":"C0221025; MONDO:0007708","Xref__c":"C3821"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=86635005","Source__c":"C0221025; MONDO:0007708","Xref__c":"86635005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0221025","Source__c":"C0221025","Xref__c":"C0221025"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=65122","Source__c":"C0221025","Xref__c":"MEDGEN:65122"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007708","Source__c":"GARD:0000070","Xref__c":"MONDO:0007708"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the vessel that contains or conveys lymph fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100766","HPO_Synonym__c":"Abnormality of the lymphatic vessels","HPO_Name__c":"Abnormal lymphatic vessel morphology","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008151","HPO_Synonym__c":"Increased INR; Increased international normalized ratio; Low factor II activity; Prolonged PT; Reduced factor II activity; Reduced prothrombin activity","HPO_Name__c":"Prolonged prothrombin time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2330","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2330","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:2330","HPO_Frequency__c":"Uncommon (<1-4%)","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:2330","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005306","HPO_Synonym__c":"Capillary hemangiomata; Strawberry birthmark","HPO_Name__c":"Capillary hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2330","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2330","HPO_Frequency__c":"Very frequent (80-99%)","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:2330","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:2330","HPO_Frequency__c":"Occasional (5-29%)","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:2330","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypopnea is referring to breathing that is abnormally shallow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040213","HPO_Synonym__c":"Shallow breathing","HPO_Name__c":"Hypopnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2330","HPO_Frequency__c":"Very frequent (80-99%)","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:2330","HPO_Frequency__c":"Uncommon (<1-4%)","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:2330","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2330","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012329","HPO_Synonym__c":"Angioblastoma; Angioblastoma of Nakagawa; Hypertrophic hemangioma; Progressive capillary hemangioma; Tufted hemangioma","HPO_Name__c":"Tufted angioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal decreased number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001882","HPO_Synonym__c":"Decreased blood leukocyte number; Leukopenia; Low white blood cell count","HPO_Name__c":"Decreased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2330","HPO_Frequency__c":"Very frequent (80-99%)","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:2330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031207","HPO_Synonym__c":"Hemangioma of the liver; Liver hemangioma","HPO_Name__c":"Hepatic hemangioma","Feature_System__c":"Cardiovascular System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2330","HPO_Frequency__c":"Uncommon (<1-4%)","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:2330","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:2330","HPO_Frequency__c":"Occasional (5-29%)","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:2330","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Hematology","Congenital Abnormality"],"Specialist":["Hematology","Vascular Medicine","Pediatrics"]},"synonyms":["hemangioma thrombocytopenia syndrome"," hemangioma-hemorrhage syndrome"," hemangioma-thrombocytopenia syndrome"," hemangiomatosis with thrombocytopenia"," kasabach merritt phenomenon"," kasabach merritt syndrome"," kasabach-merritt phenomenon"," thrombocytopenia-hemangioma syndrome"," thrombopenia-hemangioma syndrome"]}