{"orpha":495930,"name":"Familial monosomy 7 syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-495930/","orphanet_url":"https://www.orpha.net/en/disease/detail/495930","names":{"fr":{"name":"Syndrome de monosomie 7 familiale","definition":"Maladie néoplasique rare caractérisée par l'apparition de signes d'insuffisance/de défaillance du fonctionnement de la moelle osseuse associés à un risque accru de syndrome myélodysplasique ou de leucémie myéloïde aiguë lors de la petite enfance à l'enfance. La plupart des patients manifestent des pétéchies, des ecchymoses courantes ou une anémie. La progression rapide est fréquente et le pronostic est généralement réservé."},"de":{"name":"Monosomie-7-Syndrom, familiäres","synonyms":["Myelodysplasie- und Leukämiesyndrom mit Monosomie 7"],"definition":"Eine seltene Neoplasie, bei der im Säuglings- bis Kindesalter Anzeichen einer Knochenmarkinsuffizienz/-insuffizienz auftreten, die mit einem erhöhten Risiko für ein myelodysplastisches Syndrom oder eine akute myeloische Leukämie einhergeht. Die meisten Patienten präsentieren sich mit Petechien, leichten Blutergüssen oder Anämie. Die Krankheit schreitet häufig schnell voran, und die Prognose ist im Allgemeinen schlecht."},"es":{"name":"Síndrome familiar de monosomía 7","definition":"Es una enfermedad neoplásica poco frecuente caracterizada por evidencia de insuficiencia/fallo de la médula ósea de inicio entre la lactancia y la infancia, asociada a un mayor riesgo de desarrollar síndrome mielodisplásico o leucemia mieloide aguda. La mayoría de los pacientes presentan petequias, propensión a hematomas o anemia. Con frecuencia, la progresión es rápida y, por lo general, el pronóstico es desfavorable."},"it":{"name":"Monosomia 7 familiare","definition":"Si tratta di una neoplasia rara ad esordio nella prima infanzia o nell'infanzia con insufficienza midollare associata al rischio di sviluppare una sindrome mielodisplastica o una leucemia mieloide acuta. La maggior parte dei pazienti presenta petecchie, tendenza alle ecchimosi o anemia. Di solito la malattia progredisce rapidamente, con una prognosi sfavorevole."},"nl":{"name":"Familiale monosomie 7 syndroom","definition":"Een zeldzame neoplastische aandoening, gekarakteriseerd door aanvang in de zuigelingentijd tot kindertijd van insufficiëntie/falen van beenmerg geassocieerd met verhoogd risico op myelodysplastisch syndroom of acute myeloïde leukemie. De meeste patiënten presenteren zich met petechiën, vatbaarheid voor kneuzing, of anemie. Snelle progressie is gangbaar, en de prognose is doorgaans slecht."},"pt":{"name":"Síndrome de monossomia do mosaico 7"},"pl":{"name":"Zespół rodzinnej mosomii 7"},"cs":{"name":"Familiární monozomie 7"},"uk":{"name":"Синдром сімейної моносомії 7","definition":"A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor."},"zh":{"name":"家族性7号染色单体综合征"},"tr":{"name":"Ailesel monozomi 7 sendromu"}},"xrefs":[{"source":"OMIM","code":"252270","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619041","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D46.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A3Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044645","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681220","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3765","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":52688,"name":"Myelodysplastic syndrome","classifications":[194,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"20614583[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20614583[PMID]"}],"phenotypes":null}