{"Name":"Platelet-type bleeding disorder 18","DiseaseID__c":"GARD:0017695","id":17695,"encodedName":"platelet-type-bleeding-disorder-18","IsDeleted":false,"Disease_Name_Full__c":"Platelet-type bleeding disorder 18","Xref_IDs__c":"C4014584; DOID:0111051; MEDGEN:863021; MONDO:0014386; OMIM:615888; ORPHA:420566","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014386","Disease_Description__c":"Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.","GARD_Name__c":"Platelet-type bleeding disorder 18","GARD_Synonym__c":"bdplt18; bleeding disorder due to calcium- and dag-regulated guanine exchange factor-1 deficiency; bleeding disorder due to caldag-gefi deficiency; inherited bleeding disorder, platelet-type caused by mutation in rasgrp2; rasgrp2 inherited bleeding disorder, platelet-type","Curated_Disease_Description_Source__c":"MONDO:0014386","Curated_Disease_Description__c":"Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:420566","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014386","ORPHANET_ID__c":"ORPHA:420566","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno de sangrado por deficiencia de caldag-gefi","Spanish_Description_Source__c":"ORPHA:420566","Spanish_Description__c":"Es una enfermedad hematológica poco frecuente debida a una función plaquetaria defectuosa caracterizada por sangrado mucocutáneo que comienza en la lactancia (alrededor de los 18 meses de edad). Se presenta con epistaxis prolongadas y graves, hematomas y sangrado después de la extracción de piezas dentales. También se ha descrito menorragia masiva y anemia crónica.","Spanish_Disease_Name__c":"trastorno de sangrado por deficiencia de caldag-gefi","Spanish_GARD_Synonym__c":"trastorno de sangrado por deficiencia del factor 1 de intercambio de guanina regulada por dag y calcio","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":"Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0014386","GARD_Synonym__c":"bdplt18; bleeding disorder due to calcium- and dag-regulated guanine exchange factor-1 deficiency; bleeding disorder due to caldag-gefi deficiency; inherited bleeding disorder, platelet-type caused by mutation in rasgrp2; rasgrp2 inherited bleeding disorder, platelet-type","Name":"Platelet-type bleeding disorder 18","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:420566"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111051","Source__c":"MONDO:0014386","Xref__c":"DOID:0111051"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863021","Source__c":"C4014584","Xref__c":"MEDGEN:863021"},{"URL__c":"https://www.omim.org/entry/615888","Source__c":"C4014584; MONDO:0014386; ORPHA:420566","Xref__c":"OMIM:615888"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4014584","Source__c":"C4014584","Xref__c":"C4014584"},{"URL__c":"https://www.orpha.net/en/disease/detail/420566","Source__c":"C4014584; MONDO:0014386","Xref__c":"ORPHA:420566"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014386","Source__c":"GARD:0017695","Xref__c":"MONDO:0014386"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RASGRP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615888","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003010","HPO_Synonym__c":"Increased bleeding time; Prolonged bleeding time","HPO_Name__c":"Prolonged bleeding time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615888","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:615888","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615888","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004866","HPO_Name__c":"Impaired ADP-induced platelet aggregation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615888","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:615888","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:615888","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008148","HPO_Name__c":"Impaired epinephrine-induced platelet aggregation","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":["bdplt18"," bleeding disorder due to calcium- and dag-regulated guanine exchange factor-1 deficiency"," bleeding disorder due to caldag-gefi deficiency"," inherited bleeding disorder, platelet-type caused by mutation in rasgrp2"," rasgrp2 inherited bleeding disorder, platelet-type"]}