{"Name":"Beta-thalassemia-X-linked thrombocytopenia syndrome","DiseaseID__c":"GARD:0017166","id":17166,"encodedName":"beta-thalassemia-x-linked-thrombocytopenia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Beta-thalassemia-X-linked thrombocytopenia syndrome","Xref_IDs__c":"718196002; C134941; C1839161; C564050; DOID:0111767; MEDGEN:326415; MONDO:0010745; OMIM:314050; ORPHA:231393","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010745","Disease_Description__c":"Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia (see this term) characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.","GARD_Name__c":"Beta-thalassemia-X-linked thrombocytopenia syndrome","GARD_Synonym__c":"beta thalassemia x-linked thrombocytopenia syndrome; thrombocytopenia with beta-thalassemia, x-linked; thrombocytopenia with beta-thalassemia, x-linked, x-linked recessive; x-linked thrombocytopenia with beta-thalassemia; xltt","Curated_Disease_Description_Source__c":"ORPHA:231393","Curated_Disease_Description__c":"Beta-thalassemia-X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:231393","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010745","ORPHANET_ID__c":"ORPHA:231393","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de beta-talasemia-trombocitopenia ligada al cromosoma x","Spanish_Description_Source__c":"ORPHA:231393","Spanish_Description__c":"La beta-talasemia - trombocitopenia ligada al cromosoma X es una forma de beta-talasemia (ver este término), caracterizada por petequias, esplenomegalia, trombocitopenia moderada y tiempo de sangría alargado (por disfunción plaquetaria), reticulocitosis y BT leve.","Spanish_Disease_Name__c":"síndrome de beta-talasemia-trombocitopenia ligada al cromosoma x","Spanish_GARD_Synonym__c":"xltt","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":"Beta-thalassemia-X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia.","Curated_Disease_Description_Source__c":"ORPHA:231393","GARD_Synonym__c":"beta thalassemia x-linked thrombocytopenia syndrome; thrombocytopenia with beta-thalassemia, x-linked; thrombocytopenia with beta-thalassemia, x-linked, x-linked recessive; x-linked thrombocytopenia with beta-thalassemia; xltt","Name":"Beta-thalassemia-X-linked thrombocytopenia syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cooley's Anemia Foundation","Website__c":"https://www.thalassemia.org/"}],"GARD_Disease_Tag__c":[{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:231393"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1364","Source__c":"Gene Review","Xref__c":"NBK1364"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111767","Source__c":"MONDO:0010745","Xref__c":"DOID:0111767"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1839161","Source__c":"C1839161","Xref__c":"C1839161"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C134941","Source__c":"C1839161; MONDO:0010745","Xref__c":"C134941"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=326415","Source__c":"C1839161","Xref__c":"MEDGEN:326415"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718196002","Source__c":"C1839161; MONDO:0010745","Xref__c":"718196002"},{"URL__c":"https://www.orpha.net/en/disease/detail/231393","Source__c":"C1839161; MONDO:0010745; ORPHA:231393","Xref__c":"ORPHA:231393"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564050","Source__c":"MONDO:0010745","Xref__c":"C564050"},{"URL__c":"https://www.omim.org/entry/314050","Source__c":"C1839161; MONDO:0010745; ORPHA:231393","Xref__c":"OMIM:314050"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010745","Source__c":"GARD:0017166","Xref__c":"MONDO:0010745"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GATA1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gata1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:231393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011902","HPO_Synonym__c":"Abnormal Hb","HPO_Name__c":"Abnormal hemoglobin","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231393","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:231393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231393","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:231393","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:231393","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any anomaly in the function of thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011869","HPO_Name__c":"Abnormal platelet function","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":["beta thalassemia x-linked thrombocytopenia syndrome"," thrombocytopenia with beta-thalassemia, x-linked"," thrombocytopenia with beta-thalassemia, x-linked, x-linked recessive"," x-linked thrombocytopenia with beta-thalassemia"," xltt"]}