{"Name":"Thrombocytopenia 2","DiseaseID__c":"GARD:0005191","id":5191,"encodedName":"thrombocytopenia-2","IsDeleted":false,"Disease_Name_Full__c":"Thrombocytopenia 2","Xref_IDs__c":"C129035; C1861185; C536519; MEDGEN:349976; MONDO:0008555; OMIM:188000","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008555","Disease_Description__c":"An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.","GARD_Name__c":"Thrombocytopenia 2","GARD_Synonym__c":"thc2; thrombocytopenia type 2","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Thrombocytopenia-2 (THC2) is a condition that affects the number of platelets in the blood. Platelets are important for blood clotting. People with THC2 have a reduced number of platelets, which can cause mild bleeding. The platelets that are present  look and work correctly, as does the bone marrow (where platelets are made). The low platelet count may be due to the body not producing enough of them or because it is not releasing them properly. THC2 is caused by changes in the ANKRD26 gene. It follows an autosomal dominant pattern of inheritance.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:188000","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008555","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Thrombocytopenia-2 (THC2) is a condition that affects the number of platelets in the blood. Platelets are important for blood clotting. People with THC2 have a reduced number of platelets, which can cause mild bleeding. The platelets that are present  look and work correctly, as does the bone marrow (where platelets are made). The low platelet count may be due to the body not producing enough of them or because it is not releasing them properly. THC2 is caused by changes in the ANKRD26 gene. It follows an autosomal dominant pattern of inheritance.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"thc2; thrombocytopenia type 2","Name":"Thrombocytopenia 2","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005191","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK507664","Source__c":"Gene Review","Xref__c":"NBK507664"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349976","Source__c":"C1861185","Xref__c":"MEDGEN:349976"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129035","Source__c":"C1861185; MONDO:0008555","Xref__c":"C129035"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861185","Source__c":"C1861185","Xref__c":"C1861185"},{"URL__c":"https://www.omim.org/entry/188000","Source__c":"C1861185; MONDO:0008555","Xref__c":"OMIM:188000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536519","Source__c":"MONDO:0008555","Xref__c":"C536519"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008555","Source__c":"GARD:0005191","Xref__c":"MONDO:0008555"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ANKRD26","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:188000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:188000","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:188000","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034010","HPO_Name__c":"Increased megakaryocyte colony forming unit count","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:188000","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"}}],"tags":{},"synonyms":["thc2"," thrombocytopenia type 2"]}