{"Name":"Platelet-type bleeding disorder 19","DiseaseID__c":"GARD:0017738","id":17738,"encodedName":"platelet-type-bleeding-disorder-19","IsDeleted":false,"Disease_Name_Full__c":"Platelet-type bleeding disorder 19","Xref_IDs__c":"C4015405; DOID:0111048; MEDGEN:863842; MONDO:0014518; OMIM:616176; ORPHA:438207","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014518","Disease_Description__c":"Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.","GARD_Name__c":"Platelet-type bleeding disorder 19","GARD_Synonym__c":"bdplt19; isolated hereditary giant platelet disorder caused by mutation in prkacg; prkacg isolated hereditary giant platelet disorder; severe autosomal recessive macrothrombocytopenia","Curated_Disease_Description_Source__c":"ORPHA:438207","Curated_Disease_Description__c":"A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:438207","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014518","ORPHANET_ID__c":"ORPHA:438207","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Macrotrombocitopenia grave autosómica recesiva","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"macrotrombocitopenia grave autosómica recesiva","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 isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia.","Curated_Disease_Description_Source__c":"ORPHA:438207","GARD_Synonym__c":"bdplt19; isolated hereditary giant platelet disorder caused by mutation in prkacg; prkacg isolated hereditary giant platelet disorder; severe autosomal recessive macrothrombocytopenia","Name":"Platelet-type bleeding disorder 19","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Bleeding Disorders Foundation","Website__c":"https://www.bleeding.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:438207"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/616176","Source__c":"C4015405; MONDO:0014518","Xref__c":"OMIM:616176"},{"URL__c":"https://www.orpha.net/en/disease/detail/438207","Source__c":"C4015405; MONDO:0014518","Xref__c":"ORPHA:438207"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4015405","Source__c":"C4015405","Xref__c":"C4015405"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863842","Source__c":"C4015405","Xref__c":"MEDGEN:863842"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111048","Source__c":"MONDO:0014518","Xref__c":"DOID:0111048"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014518","Source__c":"GARD:0017738","Xref__c":"MONDO:0014518"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PRKACG","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616176","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:616176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000132","HPO_Synonym__c":"Abnormally heavy bleeding during menstruation; Abnormally heavy periods; Hypermenorrhea","HPO_Name__c":"Menorrhagia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000421","HPO_Synonym__c":"Bloody nose; Frequent nosebleeds; Nasal hemorrhage; Nose bleed; Nose bleeding; Nosebleed","HPO_Name__c":"Epistaxis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616176","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Spontaneous development of hematomas (hematoma) or bruises without significant trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007420","HPO_Name__c":"Spontaneous hematomas","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616176","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":"OMIM:616176","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":"OMIM:616176","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040185","HPO_Synonym__c":"Macrothrombozytopenia","HPO_Name__c":"Macrothrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["bdplt19"," isolated hereditary giant platelet disorder caused by mutation in prkacg"," prkacg isolated hereditary giant platelet disorder"," severe autosomal recessive macrothrombocytopenia"]}