{"Name":"SCOTT SYNDROME","DiseaseID__c":"GARD:0004777","id":4777,"encodedName":"scott-syndrome","IsDeleted":false,"Disease_Name_Full__c":"SCOTT SYNDROME","Xref_IDs__c":"128098009; C0796149; C563120; DOID:0111052; MEDGEN:167107; MONDO:0009885; OMIM:262890; ORPHA:806","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009885","Disease_Description__c":"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.","GARD_Name__c":"SCOTT SYNDROME","GARD_Synonym__c":"bdplt7; bleeding abnormality due to deficiency of platelet biding of factor x; bleeding abnormality due to deficiency of platelet binding of factor x; bleeding disorder, platelet-type, 7; familial prothrombin consumption inhibitor; familial prothrombin conversion defect; platelet factor x receptor deficiency; platelet-type bleeding disorder 7; prothrombin consumption deficiency; prothrombin consumption inhibitor, familial; prothrombin conversion defect, familial; scts","Curated_Disease_Description_Source__c":"MONDO:0009885","Curated_Disease_Description__c":"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:806","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009885","ORPHANET_ID__c":"ORPHA:806","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de scott","Spanish_Description_Source__c":"ORPHA:806","Spanish_Description__c":"El síndrome de Scott es un trastorno hemorrágico congénito extremadamente infrecuente caracterizado por episodios hemorrágicos debido a una alteración de la actividad coagulante plaquetaria.","Spanish_Disease_Name__c":"síndrome de scott","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":"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.","Curated_Disease_Description_Source__c":"MONDO:0009885","GARD_Synonym__c":"bdplt7; bleeding abnormality due to deficiency of platelet biding of factor x; bleeding abnormality due to deficiency of platelet binding of factor x; bleeding disorder, platelet-type, 7; familial prothrombin consumption inhibitor; familial prothrombin conversion defect; platelet factor x receptor deficiency; platelet-type bleeding disorder 7; prothrombin consumption deficiency; prothrombin consumption inhibitor, familial; prothrombin conversion defect, familial; scts","Name":"SCOTT SYNDROME","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":"All ages","Provided_By__c":"ORPHA:806"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0796149"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004777","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/262890","Source__c":"C0796149; MONDO:0009885; ORPHA:806","Xref__c":"OMIM:262890"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563120","Source__c":"MONDO:0009885","Xref__c":"C563120"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796149","Source__c":"C0796149","Xref__c":"C0796149"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=167107","Source__c":"C0796149","Xref__c":"MEDGEN:167107"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128098009","Source__c":"C0796149; MONDO:0009885","Xref__c":"128098009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111052","Source__c":"MONDO:0009885","Xref__c":"DOID:0111052"},{"URL__c":"https://www.orpha.net/en/disease/detail/806","Source__c":"C0796149; MONDO:0009885; ORPHA:806","Xref__c":"ORPHA:806"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009885","Source__c":"GARD:0004777","Xref__c":"MONDO:0009885"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ANO6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:806","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:806","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008151","HPO_Synonym__c":"Increased INR; Increased international normalized ratio; Low factor II activity; Prolonged PT; Reduced factor II activity; Reduced prothrombin activity","HPO_Name__c":"Prolonged prothrombin time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:806","HPO_Frequency__c":"Very frequent (80-99%)","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:806","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000225","HPO_Synonym__c":"Bleeding gums; Gingival hemorrhage; Gingivorrhagia","HPO_Name__c":"Gingival bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:806","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Significant maternal hemorrhage/blood loss following deilvery of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011891","HPO_Synonym__c":"Bleeding post-delivery; Post-partum hemorrhage","HPO_Name__c":"Post-partum hemorrhage","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:806","HPO_Frequency__c":"Frequent (30-79%)","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:806","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["bdplt7"," bleeding abnormality due to deficiency of platelet biding of factor x"," bleeding abnormality due to deficiency of platelet binding of factor x"," bleeding disorder, platelet-type, 7"," familial prothrombin consumption inhibitor"," familial prothrombin conversion defect"," platelet factor x receptor deficiency"," platelet-type bleeding disorder 7"," prothrombin consumption deficiency"," prothrombin consumption inhibitor, familial"," prothrombin conversion defect, familial"," scts"]}