{"orpha":420566,"name":"Bleeding disorder due to CalDAG-GEFI deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-420566/","orphanet_url":"https://www.orpha.net/en/disease/detail/420566","names":{"fr":{"name":"Troubles hémorragiques par déficit en CalDAG-GEFI","synonyms":["Troubles hémorragiques par déficit en calcium- and DAG-regulated guanine exchange factor-1"],"definition":"Les troubles hémorragiques par déficit en CalDAG-GEFI représentent une maladie hématologie rare causée par un trouble de la fonction plaquettaire. Elle se caractérise par un saignement muco-cutané débutant dans la petite enfance (autour de l'âge de 18 mois), qui se manifeste par une épistaxis sévère et prolongée, des hématomes et un saignement après une extraction dentaire. Une ménorrhagie massive et une anémie chronique ont aussi été rapportées."},"de":{"name":"Blutungskrankheit durch CalDAG-GEFI-Mangel","synonyms":["Blutungskrankheit durch Kalzium- und DAG-regulierten Guanin-Nukleotid-Austausch-Faktor 1- Mangel"]},"es":{"name":"Trastorno de sangrado por deficiencia de CalDAG-GEFI","synonyms":["Trastorno de sangrado por deficiencia del factor 1 de intercambio de guanina regulada por DAG y calcio"],"definition":"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."},"it":{"name":"Disturbo emorragico da deficit di CalDAG-GEFI","synonyms":["Disturbo emorragico da deficit del fattore 1 di scambio dei nucleotidi guaninici regolato da calcio e DAG"],"definition":"L'emorragia da deficit di CalDAG-GEFI è una malattia ematologica rara causata da un difetto della funzionalità delle piastrine, caratterizzata da emorragie muco-cutanee che esordiscono nell'infanzia (attorno ai 18 mesi di vita), con epistassi gravi e prolungate, ematomi ed emorragie a seguito di estrazioni dentarie. Possono associarsi menorragia grave ed anemia cronica."},"nl":{"name":"Bloedingsstoornis door CalDAG-GEFI-deficiëntie","synonyms":["Bloedingsstoornis door calcium- en DAG-gereguleerde guanine-exchange-factor 1-deficiëntie"],"definition":"Bloedingsstoornis door CalDAG-GEFI-deficiëntie is een zeldzame hematologische ziekte, als gevolg van een defecte bloedplaatjesfunctie, die wordt gekarakteriseerd door mucocutane bloedingen met aanvang in de zuigelingentijd (rond de leeftijd van 18 maanden) en die zich uit met langdurige en ernstige epistaxis (bloedneus), hematomen en bloeding na tandextractie. Hevige menorragie en chronische anemie werden ook reeds gerapporteerd."},"pt":{"name":"Doença hemorrágica por deficiência de CalDAG-GEFI","synonyms":["Doença hemorrágica por deficiência de fator 1 de troca de guanina regulada por DAG e cálcio"]},"pl":{"name":"Skaza krwotoczna z powodu niedoboru CalDAG-GEFI","synonyms":["Skaza krwotoczna z powodu niedoboru czynnika wymiany nukleotydów guaninowych-1 regulowanego wapniem i DAG"]},"cs":{"name":"Krvácivá porucha způsobená deficitem CalDAG-GEFI","synonyms":["Krvácivá porucha způsobená deficitem vápníkového a DAG-regulovaným guaninem výměnného faktoru 1"]},"uk":{"name":"Порушення згортання крові, зумовлене дефіцитом CalDAG-GEFI","synonyms":["Порушення кровотечі внаслідок дефіциту гуанінового обмінного фактора-1, регульованого кальцієм та DAG"],"definition":"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."},"zh":{"name":"CalDAG-GEFI缺陷导致的出血障碍","synonyms":["钙和DAG调节的鸟嘌呤交换因子1缺乏引起的出血性疾病"],"definition":"CalDAG-GEFI缺乏引起的出血性疾病是一种罕见的血液系统疾病，是由于血小板功能缺陷而引起，主要临床表现是从婴儿期（大约18个月龄）开始出现粘膜皮肤出血，长期和严重的鼻出血，血肿和拔牙后出血。也可合并月经过多和慢性贫血。"},"tr":{"name":"CalDAG-GEFI eksikliğine bağlı kanama bozukluğu","synonyms":["Kalsiyum ve DAG ile düzenlenen guanin değişim faktör-1 eksikliğine bağlı kanama bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"615888","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014386","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510815","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":"RASGRP2","name":"RAS guanyl releasing protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24958846[PMID]","hgnc":"9879","ensembl":"ENSG00000068831","omim":"605577","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24958846[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24958846[PMID]"}],"phenotypes":null}