{"orpha":806,"name":"Scott syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-806/","orphanet_url":"https://www.orpha.net/en/disease/detail/806","names":{"fr":{"name":"Syndrome de Scott","definition":"Un syndrome hémorragique, congénital, extrêmement rare, caractérisé par des épisodes hémorragiques causés par un trouble de l'activité de coagulation des plaquettes."},"de":{"name":"Scott-Syndrom","definition":"Das Scott-Syndrom ist eine extrem seltene angeborene hämorrhagische Erkrankung, die durch hämorrhagische Episoden als Folge einer gestörten Thrombozytengerinnung gekennzeichnet ist."},"es":{"name":"Síndrome de Scott","definition":"El síndrome de Scott es un trastorno hemorrágico congénito extremadamente infrecuente caracterizado por episodios hemorrágicos debido a una alteración de la actividad coagulante plaquetaria."},"it":{"name":"Sindrome di Scott"},"nl":{"name":"Syndroom van Scott","definition":"Scottsyndroom is een extreem zeldzame congenitale hemorragische stoornis die gekenmerkt wordt door hemorragische episodes als gevolg van een verstoorde stollingsactiviteit van bloedplaatjes."},"pt":{"name":"Síndrome Scott"},"pl":{"name":"Zespół Scotta"},"cs":{"name":"Scottův syndrom"},"uk":{"name":"Синдром Скотта","definition":"Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity."},"zh":{"name":"Scott综合征"},"tr":{"name":"Scott sendromu"}},"xrefs":[{"source":"OMIM","code":"262890","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"186013982"},{"source":"MONDO","code":"0009885","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563120","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796149","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4777","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":275736,"name":"Rare hemorrhagic disorder due to a qualitative platelet defect","classifications":[156,194]}],"children":[],"genes":[{"symbol":"ANO6","name":"anoctamin 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21107324[PMID]_21511967[PMID]","hgnc":"25240","ensembl":"ENSG00000177119","omim":"608663","loci":["12q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"8608230[PMID]_15790791[PMID]_19814742[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-07-02","source":"22027759[PMID]_31746257[PMID]_38492852[PMID]","terms":[{"hpo":"HP:0011891","label":"Post-partum hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004846","label":"Prolonged bleeding after surgery","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Occasional (29-5%)","criteria":null}]}}