{"Name":"Thrombocytopenia 6","DiseaseID__c":"GARD:0017870","id":17870,"encodedName":"thrombocytopenia-6","IsDeleted":false,"Disease_Name_Full__c":"Thrombocytopenia 6","Xref_IDs__c":"C4310789; MEDGEN:934756; MONDO:0014837; OMIM:616937; ORPHA:480851","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:480851","Disease_Description__c":"A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils.","GARD_Name__c":"Thrombocytopenia 6","GARD_Synonym__c":"hereditary thrombocytopenia with early-onset myelofibrosis; thc6; thrombocytopenia type 6; thrombocytopenia, autosomal dominant, 6","Curated_Disease_Description_Source__c":"ORPHA:480851","Curated_Disease_Description__c":"A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:480851","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014837","ORPHANET_ID__c":"ORPHA:480851","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombocitopenia hereditaria con mielofibrosis de inicio precoz","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"trombocitopenia hereditaria con mielofibrosis de inicio precoz","Spanish_GARD_Synonym__c":null,"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":"A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils.","Curated_Disease_Description_Source__c":"ORPHA:480851","GARD_Synonym__c":"hereditary thrombocytopenia with early-onset myelofibrosis; thc6; thrombocytopenia type 6; thrombocytopenia, autosomal dominant, 6","Name":"Thrombocytopenia 6","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic 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":"Myeloid hemopathy","Tag_Category__c":"Account","curated_tag_name":"Blood or bone marrow disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:480851"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=934756","Source__c":"C4310789","Xref__c":"MEDGEN:934756"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4310789","Source__c":"C4310789","Xref__c":"C4310789"},{"URL__c":"https://www.orpha.net/en/disease/detail/480851","Source__c":"C4310789; MONDO:0014837; ORPHA:480851","Xref__c":"ORPHA:480851"},{"URL__c":"https://www.omim.org/entry/616937","Source__c":"C4310789; MONDO:0014837; ORPHA:480851","Xref__c":"OMIM:616937"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014837","Source__c":"GARD:0017870","Xref__c":"MONDO:0014837"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SRC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616937","Feature__r":{"HPO_Description__c":"Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000601","HPO_Synonym__c":"Abnormally close eyes; Closely spaced eyes; Decreased distance between eye sockets; Decreased distance between eyes; Decreased interpupillary distance; Decreased orbital separation; Ocular hypotelorism","HPO_Name__c":"Hypotelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616937","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":"OMIM:616937","Feature__r":{"HPO_Description__c":"Replacement of bone marrow by fibrous tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011974","HPO_Name__c":"Myelofibrosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616937","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002003","HPO_Synonym__c":"Increased size of forehead; Increased size of frontal region of face; Large forehead","HPO_Name__c":"Large forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616937","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004406","HPO_Synonym__c":"Recurrent epistaxes; Recurrent epistaxis; Recurring nosebleed; Spontaneous, recurrent nosebleed","HPO_Name__c":"Spontaneous, recurrent epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616937","Feature__r":{"HPO_Description__c":"A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031020","HPO_Synonym__c":"Myeloid hyperplasia","HPO_Name__c":"Bone marrow hypercellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616937","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616937","Feature__r":{"HPO_Description__c":"An eye that is more deeply recessed into the plane of the face than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000490","HPO_Synonym__c":"Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes","HPO_Name__c":"Deeply set eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616937","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Hematology","Pediatrics"],"Disease Category":["Cancer","Genetics","Hematology"],"Cause":["Genetics"],"Account":["Myeloid hemopathy"]},"synonyms":["hereditary thrombocytopenia with early-onset myelofibrosis"," thc6"," thrombocytopenia type 6"," thrombocytopenia, autosomal dominant, 6"]}