{"Name":"Congenital autosomal recessive small-platelet thrombocytopenia","DiseaseID__c":"GARD:0022274","id":22274,"encodedName":"congenital-autosomal-recessive-small-platelet-thrombocytopenia","IsDeleted":false,"Disease_Name_Full__c":"Congenital autosomal recessive small-platelet thrombocytopenia","Xref_IDs__c":"1208617001; C5680129; MEDGEN:1802913; MONDO:0035441; ORPHA:566192","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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0035441","Disease_Description__c":"A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.","GARD_Name__c":"Congenital autosomal recessive small-platelet thrombocytopenia","GARD_Synonym__c":"carst; carst - congenital autosomal recessive small-platelet thrombocytopenia","Curated_Disease_Description_Source__c":"MONDO:0035441","Curated_Disease_Description__c":"A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:566192","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035441","ORPHANET_ID__c":"ORPHA:566192","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombocitopenia de plaquetas pequeñas congénita autosómica recesiva","Spanish_Description_Source__c":"ORPHA:566192","Spanish_Description__c":"Es una trombocitopenia constitucional aislada poco frecuente caracterizada por una trombocitopenia de plaquetas pequeñas de inicio neonatal con una tendencia significativamente elevada al sangrado. Los síntomas hemorrágicos incluyen erupción petequial, sangrado de las mucosas y sangrado menstrual abundante. Tanto el crecimiento como el desarrollo son normales y no se describe una mayor susceptibilidad a las infecciones.","Spanish_Disease_Name__c":"trombocitopenia de plaquetas pequeñas congénita autosómica recesiva","Spanish_GARD_Synonym__c":"carst; deficiencia de adap; deficiencia de proteína adaptadora promotora de la adhesión y degranulación; deficiencia de proteína de unión fyn","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 constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.","Curated_Disease_Description_Source__c":"MONDO:0035441","GARD_Synonym__c":"carst; carst - congenital autosomal recessive small-platelet thrombocytopenia","Name":"Congenital autosomal recessive small-platelet thrombocytopenia","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":"Neonatal","Provided_By__c":"ORPHA:566192"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680129","Source__c":"C5680129","Xref__c":"C5680129"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1802913","Source__c":"C5680129","Xref__c":"MEDGEN:1802913"},{"URL__c":"https://www.orpha.net/en/disease/detail/566192","Source__c":"C5680129; MONDO:0035441; ORPHA:566192","Xref__c":"ORPHA:566192"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035441","Source__c":"GARD:0022274","Xref__c":"MONDO:0035441"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208617001","Source__c":"C5680129","Xref__c":"1208617001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FYB1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["carst"," carst - congenital autosomal recessive small-platelet thrombocytopenia"]}