{"orpha":450,"name":"Visceral heterotaxy","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Heterotaxy","Heterotaxy syndrome"],"definition":"A rare developmental defect during embryogenesis characterized by abnormal arrangement of the thoraco-abdominal organs across the left-right axis of the body. By definition, it does not include situs inversus totalis (total mirror-imagery).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-450/","orphanet_url":"https://www.orpha.net/en/disease/detail/450","names":{"fr":{"name":"Hétérotaxie viscérale","synonyms":["Hétérotaxie","Syndrome d'hétérotaxie"],"definition":"Anomalie rare du développement embryonnaire caractérisée par une disposition anormale des organes thoraco-abdominaux par rapport à l'axe gauche-droite du corps. Par définition, l'anomalie n'inclut pas le situs inversus total (inversion totale des organes)."},"de":{"name":"Heterotaxie, viszerale","synonyms":["Heterotaxie","Heterotaxie-Syndrom","HTX"],"definition":"Der Begriff 'Heterotaxie' ist aus dem Griechischen hergeleitet: 'heteros' = verschieden und 'taxis' = Anordnung. Gemeint ist die Rechts-Links-Transposition der Organe im Thorax und/oder Abdomen. Dies ist ein Merkmal mehrerer Krankheiten, da es viele verschiedene Möglichkeiten einer Rechts/Links-Austausches gibt. Er kann komplett sein (Situs inversus totalis, kurz Situs inversus, d.h. alle sonst rechtsseitigen Organe liegen links, und umgekehrt) oder partial (unvollständiger Situs inversus, d.h. nur ein Teil der Organe ist auf die Gegenseite verlagert - oder Situs inversus ambiguus, d.h., normal lateral liegende Organe sind in die Mitte verlagert)."},"es":{"name":"Heterotaxia visceral","synonyms":["Heterotaxia","Síndrome de heterotaxia"],"definition":"El término heterotaxia proviene de las palabras griegas ''heteros'' (diferente) y ''taxis'' (ordenamiento). Se trata de la transposición derecha/izquierda de los órganos abdominales y/o torácicos. Abarca diversos trastornos ya que hay múltiples posibilidades de inversiones, que pueden ser completas (<i>situs inversus totalis</i> o <i>situs inversus</i>, es decir, todos los órganos situados normalmente a la derecha están a la izquierda y viceversa), o parciales (<i>situs inversus</i> incompleto, es decir, un número limitado de órganos está invertido, o <i>situs inversus</i> ambiguo, es decir, un órgano normalmente lateral se localiza en el centro)."},"it":{"name":"Eterotassia viscerale","synonyms":["Eterotassia","Sindrome eterotassica","HTX"]},"nl":{"name":"Viscerale heterotaxie","synonyms":["Heterotaxie","Heterotaxie-syndroom"],"definition":"Heterotaxie (afkomstig van het Griekse 'heteros' dat verschillend betekent, en 'taxis' dat schikking betekent) is de rechts/links-transpositie van thoracale en/of abdominale organen. Het omvat een grote variëteit van aandoeningen, aangezien er meerdere mogelijkheden van rechts/links-omkering bestaan, en deze kan volledig (situs inversus totalis of situs inversus, zijnde alle organen die normaal gezien aan de rechterzijde worden aangetroffen, bevinden zich links, en omgekeerd) of gedeeltelijk (onvolledige situs inversus, zijnde een beperkt aantal organen zijn omgekeerd, of situs inversus ambiguus, zijnde een orgaan dat zich normaal gezien lateraal bevindt, is centraal gesitueerd) zijn."},"pt":{"name":"Heterotaxia visceral","synonyms":["Síndrome de heterotaxia","Heterotaxia"]},"pl":{"name":"Heterotaksja trzewna","synonyms":["Defekt lateralizacji","Heterotaksja trzewna","Zespół heterotaksji"]},"cs":{"name":"Heterotaxie","synonyms":["Heterotaktický syndrom","Defekt lateralizace","Viscerální heterotaxie"]},"uk":{"name":"Гетеротаксія","synonyms":["Синдром гетеротаксису","Дефект латералізації","Вісцеральна гетеротаксис"],"definition":"Heterotaxia (coming from the Greek 'heteros' meaning different and 'taxis' meaning arrangement) is the right/left transposition of thoracic and/or abdominal organs. It encompasses a wide variety of disorders since there are multiple possibilities of right/left reversals, which may be complete (<i>situs inversus totalis</i> or <i>situs inversus</i> <i>i.e.</i> all the organs normally found on the right are on the left and vice versa) or partial (incomplete <i>situs inversus</i> <i>i.e.</i> a limited number of organs are inversed - or <i>situs inversus ambiguous</i> <i>i.e.</i> a normally lateral organ is centrally located)."},"zh":{"name":"内脏异位","synonyms":["偏侧缺陷"]},"tr":{"name":"Heterotaksili","synonyms":["Heterotaksi sendromu","Viseral heterotaksi","Lateralizasyon defekti"]}},"xrefs":[{"source":"OMIM","code":"270100","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"306955","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601086","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605376","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"606325","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613751","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614779","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616749","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617205","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618948","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619702","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q89.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0018677","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"18677","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D059446","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3178805","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10875","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067265","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":157769,"name":"OBSOLETE: Situs ambiguus","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98716,"name":"Heart position anomaly","classifications":[147,148]}],"children":[{"orpha":566862,"name":"Left isomerism","type":"Clinical subtype"},{"orpha":97548,"name":"Right isomerism","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GDF1","name":"growth differentiation factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20413652[PMID]","hgnc":"4214","ensembl":"ENSG00000130283","omim":"602880","loci":["19p13.11"],"via":{"orpha":97548,"name":"Right isomerism"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.0,"area":"United States","status":"Validated","source":"25099286[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}