{"orpha":331,"name":"Congenital factor XIII deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Fibrin-stabilizing factor deficiency"],"definition":"A rare inherited bleeding disorder due to reduced coagulation factor XIII (FXIII) activity level and characterized by hemorrhagic diathesis, frequently associated with spontaneous abortions and defective wound healing. The disease may manifest at any age, but the most severe and life-threatening symptoms such as post-birth umbilical cord bleeding, cephalohematoma, and intracranial hemorrhage, manifest during the neonatal period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-331/","orphanet_url":"https://www.orpha.net/en/disease/detail/331","names":{"fr":{"name":"Déficit congénital en facteur XIII","synonyms":["Déficit en facteur stabilisant de la fibrine"],"definition":"Maladie hémorragique rare par déficit en facteurs de coagulation&nbsp;XIII (FXIII) caractérisée par une diathèse hémorragique, fréquemment associée à une tendance aux fausses couches et à des anomalies de la cicatrisation. La maladie peut se déclarer à tout âge, mais les symptômes les plus graves et engageant le pronostic vital, à savoir hémorragie du cordon ombilical, céphalhématome et hémorragie intracrânienne, se manifestent au cours de la période néonatale."},"de":{"name":"Faktor XIII-Mangel, kongenitaler","synonyms":["Fibrinstabilisierender Faktor-Mangel"],"definition":"Eine seltene angeborene Blutungsstörung, die auf eine verminderte Aktivität des Gerinnungsfaktors XIII (FXIII) zurückzuführen ist und durch eine hämorrhagische Diathese gekennzeichnet ist, die häufig mit spontanen Fehlgeburten und einer gestörten Wundheilung einhergeht. Die Krankheit kann in jedem Alter auftreten, aber die schwersten und lebensbedrohlichsten Symptome wie Nabelschnurblutungen nach der Geburt, Kephalohämatome und intrakranielle Blutungen treten in der Neugeborenenperiode auf."},"es":{"name":"Deficiencia congénita del factor XIII","definition":"Es un trastorno hemorrágico hereditario poco frecuente, causado por la reducción de la actividad del factor de coagulación XIII (FXIII), que se caracteriza por diátesis hemorrágica, con frecuencia asociada a abortos espontáneos y a una cicatrización deficiente de heridas. La enfermedad puede manifestarse a cualquier edad, pero los síntomas más graves y potencialmente mortales, como la hemorragia posparto del cordón umbilical, el cefalohematoma y la hemorragia intracraneal, se manifiestan durante el período neonatal."},"it":{"name":"Deficit congenito del fattore XIII","synonyms":["Deficit del fattore stabilizzante la fibrina"]},"nl":{"name":"Congenitale factor XIII-deficiëntie","synonyms":["Congenitale factor 13-deficiëntie","Fibrinestabiliserende factordeficiëntie"],"definition":"Een zeldzame erfelijke bloedingsstoornis door gereduceerde activiteit van stollingsfactor XIII (FXIII), gekenmerkt door hemorragische diathese, vaak geassocieerd met miskraam en verstoorde wondheling. De ziekte kan zich op elke leeftijd manifesteren, maar de meest ernstige en levensbedreigende symptomen zoals postnatale bloeding van de navel, cefaal hematoom, en intracraniële bloeding, manifesteren zich tijdens de neonatale periode."},"pt":{"name":"Deficiência de fator XIII congénita","synonyms":["Deficiência de fator estabilizador de fibrina"],"definition":"A deficiência congénita do fator XIII é uma patologia hemorrágica hereditária causada por níveis e atividade reduzidos do fator XIII (FXIII) e é caraterizada por diátese hemorrágica frequentemente associada a abortos espontâneos e cicatrização deficiente."},"pl":{"name":"Wrodzony Niedobór czynnika XIII","synonyms":["Niedobór czynnika stabilizującego włóknik"],"definition":"Wrodzony niedobór czynnika XIII to dziedziczne zaburzenie krzepnięcia krwi spowodowane obniżonym poziomem i aktywnością czynnika XIII (FXIII), charakteryzujące się skazą krwotoczną często związaną z poronieniami samoistnymi i nieprawidłowym gojeniem ran. Niedobór czynnika XIII jest jednym z najrzadszych niedoborów czynników krzepnięcia."},"cs":{"name":"Vrozený deficit koagulačního faktoru XIII","synonyms":["Deficit fibrin stabilizujícího faktoru"]},"uk":{"name":"Вроджений дефіцит фактора XIII","synonyms":["Дефіцит фібринстабілізуючого фактора"],"definition":"Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies."},"zh":{"name":"先天性XIII因子缺乏","synonyms":["纤维蛋白稳定因子缺乏"]},"tr":{"name":"Doğumsal faktör XIII eksikliği","synonyms":["Fibrin stabilize edici faktör eksikliği"]}},"xrefs":[{"source":"OMIM","code":"613225","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613235","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B14.Z","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2079957863"},{"source":"MONDO","code":"0018029","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005177","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0015530","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10766","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10016083","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":68334,"name":"Rare hemorrhagic disorder due to a constitutional coagulation factors defect","classifications":[156,194]}],"children":[],"genes":[{"symbol":"F13A1","name":"coagulation factor XIII A chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21738029[PMID]","hgnc":"3531","ensembl":"ENSG00000124491","omim":"134570","loci":["6p25.1"]},{"symbol":"F13B","name":"coagulation factor XIII B chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21738029[PMID]","hgnc":"3534","ensembl":"ENSG00000143278","omim":"134580","loci":["1q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.04,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.05,"area":"Europe","status":"Validated","source":"European Medicines Agency[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-04-24","source":"27344554[PMID]_27405678[PMID]_27642336[PMID]_29027765[PMID]","terms":[{"hpo":"HP:0011884","label":"Abnormal umbilical stump bleeding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008357","label":"Reduced factor XIII activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030657","label":"Umbilical cord hematoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012233","label":"Intramuscular hematoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005261","label":"Joint hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030140","label":"Oral cavity bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007420","label":"Spontaneous hematomas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001933","label":"Subcutaneous hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011889","label":"Bleeding with minor or no trauma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040232","label":"Delayed onset bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031364","label":"Ecchymosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","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},{"hpo":"HP:0001934","label":"Persistent bleeding after trauma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011891","label":"Post-partum hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006298","label":"Prolonged bleeding after dental extraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004846","label":"Prolonged bleeding after surgery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030137","label":"Prolonged bleeding following circumcision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200067","label":"Recurrent spontaneous abortion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012324","label":"Myeloid leukemia","frequency":"Very rare (<4-1%)","criteria":null}]}}