{"Name":"Autosomal dominant macrothrombocytopenia","DiseaseID__c":"GARD:0016965","id":16965,"encodedName":"autosomal-dominant-macrothrombocytopenia","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant macrothrombocytopenia","Xref_IDs__c":"720521008; C4304021; MEDGEN:929690; MONDO:0015372; ORPHA:140957","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":5,"Description_Source__c":"MONDO:0015372","Disease_Description__c":"A rare isolated constitutional thrombocytopenia characterized by abnormally large platelets.","GARD_Name__c":"Autosomal dominant macrothrombocytopenia","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:140957","Curated_Disease_Description__c":"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:140957","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015372","ORPHANET_ID__c":"ORPHA:140957","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Macrotrombocitopenia autosómica dominante","Spanish_Description_Source__c":"ORPHA:140957","Spanish_Description__c":"Este síndrome se caracteriza por una trombocitopenia asociada a la presencia de plaquetas grandes.","Spanish_Disease_Name__c":"macrotrombocitopenia autosómica dominante","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":"This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.","Curated_Disease_Description_Source__c":"ORPHA:140957","Name":"Autosomal dominant macrothrombocytopenia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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:140957"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:140957"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:140957"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:140957"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:140957"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720521008","Source__c":"C4304021; MONDO:0015372","Xref__c":"720521008"},{"URL__c":"https://www.orpha.net/en/disease/detail/140957","Source__c":"C4304021; MONDO:0015372; ORPHA:140957","Xref__c":"ORPHA:140957"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304021","Source__c":"C4304021","Xref__c":"C4304021"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929690","Source__c":"C4304021","Xref__c":"MEDGEN:929690"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015372","Source__c":"GARD:0016965","Xref__c":"MONDO:0015372"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ACTN1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GP1BA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gp1ba","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GP1BB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gp1bb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TUBB1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TRPM7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TUBA8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TPM4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ITGA2B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/itga2b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ITGB3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/itgb3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GFI1B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:140957","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding that persists longer than the normal time following a surgical procedure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004846","HPO_Synonym__c":"Excessive bleeding during surgery; Prolonged bleeding after surgery; Protracted bleeding after surgery","HPO_Name__c":"Prolonged bleeding after surgery","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:140957","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Prolonged bleeding post dental extraction sufficient to require medical intervention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006298","HPO_Synonym__c":"Prolonged bleeding after dental extraction","HPO_Name__c":"Prolonged bleeding after dental extraction","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:140957","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Average platelet volume above the upper limit of the normal reference interval.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011877","HPO_Synonym__c":"Large platelets","HPO_Name__c":"Increased mean platelet volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:140957","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bleeding at irregular intervals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100608","HPO_Synonym__c":"Abnormal uterus bleeding; Intermenstrual bleeding; Menstrual spotting","HPO_Name__c":"Metrorrhagia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:140957","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:140957","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"}},{"Provided_By__c":"ORPHA:140957","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:140957","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:140957","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased variability in the size of platelets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032438","HPO_Name__c":"Platelet anisocytosis","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":[""]}