{"orpha":101063,"name":"Situs inversus totalis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Complete situs inversus","Complete situs inversus viscerum","Situs inversus"],"definition":"A rare developmental defect during embryogenesis characterized by complete mirror-imaged arrangement of the internal organs across the left-right axis of the body. Primary ciliary dyskinesia, Kartagener type, is frequently associated. Congenital heart disease are present in 43% of cases, which is less frequent than in patients with heterotaxy. Similarly, extracardiac and vascular anomalies can be associated (e.g. intestinal malrotation, spleen anomalies, absence of retrohepatic inferior vena cava, bilateral superior vena cava), but less frequently that in heterotaxy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101063/","orphanet_url":"https://www.orpha.net/en/disease/detail/101063","names":{"fr":{"name":"Situs inversus total","synonyms":["Situs inversus","Situs inversus complet","Situs inversus totalis"],"definition":"Anomalie rare du développement embryonnaire caractérisée par une transposition complète d'organes internes dans une position en miroir par rapport au plan sagittal. Une dyskinésie ciliaire primitive type Kartagener est fréquemment associée. Des cardiopathies congénitales sont observées dans 43 % des cas, soit moins souvent que chez les patients atteints d'hétérotaxie. De même, des anomalies extracardiaques et vasculaires peuvent être associées (par exemple, malrotation intestinale, anomalies de la rate, absence de veine cave inférieure rétrohépatique, veine cave supérieure bilatérale), mais elles sont moins fréquentes que dans le cas de l'hétérotaxie."},"de":{"name":"Situs inversus totalis","synonyms":["Situs inversus","Situs inversus viscerum, kompletter","Situs inversus, kompletter"],"definition":"Ein seltener, genetisch bedingter Entwicklungsdefekt während der Embryogenese, der durch eine vollständige spiegelbildliche Transposition sowohl der Brust- als auch der Bauchorgane quer zur Rechts-Links-Achse des Körpers gekennzeichnet ist. Weitere Anomalien wie primäre Ziliendyskinesie vom Kartagener Typ, Polysplenie, biliäre Atresie, angeborene Herzerkrankung und Mitteldarm-Malrotation sowie vaskuläre Anomalien (z. B. Fehlen der retrohepatischen Vena cava inferior, präduodenale Pfortader, abweichende hepatische Arterienanatomie) und Malignität sind häufig assoziiert."},"es":{"name":"Heterotaxia viscero-atrial","definition":"Es un defecto del desarrollo embrionario, genético y poco frecuente, caracterizado por la transposición especular total de las vísceras torácicas y abdominales sobre el eje sagital del cuerpo. Con frecuencia asocia anomalías congénitas, tales como discinesia ciliar primaria tipo Kartagener, síndrome de poliesplenia, atresia biliar, cardiopatía congénita y malrotación del intestino medio, así como anomalías vasculares (p. ej. ausencia de vena cava inferior intrahepática, vena porta preduodenal, anatomía arterial hepática aberrante) y neoplasias malignas."},"it":{"name":"Situs inverso totale","synonyms":["Situs inversus","Situs inversus completo","Situs inversus viscerum completo"],"definition":"È un difetto genetico raro di origine malformativa, causato da un'anomalia di sviluppo dell'embrione, caratterizzato dalla trasposizione speculare completa dei visceri toracici e addominali sull'asse sinistro-destro del corpo. Spesso si associa ad anomalie congenite, come la discinesia ciliare primitiva tipo Kartagener, la polisplenia, l'atresia biliare, le cardiopatie congenite e la malrotazione dell'intestino medio, così come le anomalie vascolari (agenesia della vena cava inferiore retroepatica, vena porta preduodenale, anomalie anatomiche dell'arteria epatica) e i tumori maligni."},"nl":{"name":"Situs inversus totalis","synonyms":["Situs inversus","Volledige situs inversus","Volledige situs inversus viscerum"],"definition":"Een zeldzaam, genetisch ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door volledige transpositie van zowel thoracale en abdominale ingewanden in spiegelbeeld over de links-rechts lichaamsas. Congenitale afwijkingen, zoals primaire ciliaire dyskinesie, Kartagener-type, polyspleniesyndroom, biliaire atresie, congenitale hartziekte, en malrotatie van de middendarm, alsook vasculaire anomalieën (e.g. afwezigheid van retrohepatische onderste holle ader, preduodenale poortader, aberrante anatomie van de leverslagader) en maligniteit, zijn frequent geassocieerd."},"pt":{"name":"Situs inversus totalis","synonyms":["Heterotaxia viscero-auricular"]},"pl":{"name":"Zespół odwrócenia trzewi","synonyms":["Całkowite odwrócenie trzewi","Odwrócenie trzewi"]},"cs":{"name":"Situs viscerum inversus totalis","synonyms":["Kompletní situs inversus","Kompletní situs inversus viscerum","Situs inversus"]},"uk":{"name":"Situs inversus totalis","synonyms":["Повний situs inversus","Повний situs inversus viscerum","Situs inversus"],"definition":"A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated."},"zh":{"name":"完全性内脏逆位","synonyms":["完全性内脏逆位"],"definition":"总内翻位是一种胚胎发育过程中罕见的遗传发育缺陷，其特征是胸部和腹部内脏在身体左右轴线上的完全镜像移位。先天性异常，如原发性纤毛运动障碍Kartagener型、多脾综合征、胆道闭锁、先天性心脏病、中肠旋转不良以及血管异常(如肝后下腔静脉缺如、十二指肠前门静脉缺如、肝动脉解剖异常)和恶性肿瘤都常与此相关。"},"tr":{"name":"Situs inversus totalis","synonyms":["Situs inversus","Tam situs inversus","Tam situs inversus visserum"]}},"xrefs":[{"source":"OMIM","code":"619607","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619608","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q89.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA82","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"797648408"},{"source":"MONDO","code":"0010029","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10029","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0037221","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4883","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":271853,"name":"Genetic cardiac anomaly","classifications":[156]},{"orpha":98716,"name":"Heart position anomaly","classifications":[147,148]},{"orpha":108971,"name":"Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,156,182,233]}],"children":[],"genes":[{"symbol":"DNAH9","name":"dynein axonemal heavy chain 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30471718[PMID]","hgnc":"2953","ensembl":"ENSG00000007174","omim":"603330","loci":["17p12"]},{"symbol":"MMP21","name":"matrix metallopeptidase 21","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26429889[PMID]_26437028[PMID]","hgnc":"14357","ensembl":"ENSG00000154485","omim":"608416","loci":["10q26.2"]},{"symbol":"ANKS3","name":"ankyrin repeat and sterile alpha motif domain containing 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27417436[PMID]","hgnc":"29422","ensembl":"ENSG00000168096","omim":"617310","loci":["16p13.3"]},{"symbol":"CFAP52","name":"cilia and flagella associated protein 52","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25469542[PMID]","hgnc":"16053","ensembl":"ENSG00000166596","omim":"609804","loci":["17p13.1"]},{"symbol":"CFAP53","name":"cilia and flagella associated protein 53","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22577226[PMID]","hgnc":"26530","ensembl":"ENSG00000172361","omim":"614759","loci":["18q21.1"]},{"symbol":"CIROP","name":"ciliated left-right organizer metallopeptidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34903892[PMID]","hgnc":"53647","ensembl":"ENSG00000283654","omim":"619703","loci":["14q11.2"]},{"symbol":"NME7","name":"NME/NM23 family member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27060491[PMID]","hgnc":"20461","ensembl":"ENSG00000143156","omim":"613465","loci":["1q24.2"]},{"symbol":"NODAL","name":"nodal growth differentiation factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19064609[PMID]","hgnc":"7865","ensembl":"ENSG00000156574","omim":"601265","loci":["10q22.1"]},{"symbol":"PKD1L1","name":"polycystin 1 like 1, transient receptor potential channel interacting","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27616478[PMID]","hgnc":"18053","ensembl":"ENSG00000158683","omim":"609721","loci":["7p12.3"]},{"symbol":"CITED2","name":"Cbp/p300 interacting transactivator with ED-rich tail 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"1987","ensembl":"ENSG00000164442","omim":"602937","loci":["6q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant","X-linked recessive"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"United States","status":"Validated","source":"25099286[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":3.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}