{"orpha":435988,"name":"Chronic atrial and intestinal dysrhythmia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CAID syndrome","Chronic atrial dysrhythmia-intestinal motility disorder"],"definition":"A rare genetic disease characterized by co-occurrence of sick sinus syndrome (manifesting as sinus bradycardia, often requiring pacemaker implantation) and chronic intestinal pseudo-obstruction (which may be of myogenic or neurogenic origin and usually requires total parenteral nutrition), with an age of onset within the first four decades of life. Other cardiac features, such as atrial flutter or fibrillation and valve anomalies, may also be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-435988/","orphanet_url":"https://www.orpha.net/en/disease/detail/435988","names":{"fr":{"name":"Syndrome de dysrythmie atriale et trouble de la motilité intestinale chronique","synonyms":["Syndrome CAID"],"definition":"Maladie génétique rare caractérisée par la cooccurrence de la maladie rythmique auriculaire (qui se manifeste par une bradycardie sinusale, nécessitant souvent l'implantation d'un stimulateur cardiaque) et d'une pseudo-obstruction intestinale chronique (qui peut être d'origine myogène ou neurogène et nécessite généralement une nutrition parentérale totale), et dont l'âge d'apparition se situe dans les quatre premières décennies de la vie. On peut observer d'autres signes de maladie cardiaque, tels que le flutter atrial ou la fibrillation auriculaire, ainsi que des malformations valvulaires."},"de":{"name":"Syndrom der chronischen atrialen und intestinalen Rhythmusstörung","synonyms":["CAID-Syndrom","Chronische Herzrhythmusstörung-intestinale Motilitätsstörung"],"definition":"Eine seltene genetische Erkrankung, die durch das gleichzeitige Auftreten des Sick-Sinus-Syndroms (das sich als Sinusbradykardie manifestiert und häufig die Implantation eines Herzschrittmachers erforderlich macht) und einer chronischen Pseudoobstruktion des Darms (die myogenen oder neurogenen Ursprungs sein kann und in der Regel eine totale parenterale Ernährung erfordert) gekennzeichnet ist und in den ersten vier Lebensjahrzehnten auftritt. Andere kardiale Merkmale, wie Vorhofflattern oder -flimmern und Anomalien der Klappen, können ebenfalls vorhanden sein."},"es":{"name":"Síndrome de disritmia auricular e intestinal crónico","synonyms":["Síndrome CAID","Trastorno de disritmia auricular-mobilidad intestinal crónico"],"definition":"Es una enfermedad de carácter genético poco frecuente caracterizada por la coexistencia del síndrome del seno enfermo (que se manifiesta como bradicardia sinusal, que a menudo requiere la implantación de un marcapasos) y de una pseudo-obstrucción intestinal crónica (que puede ser de origen miogénico o neurogénico y que, generalmente, requiere nutrición parenteral total), con una edad de inicio dentro de las primeras cuatro décadas de vida. También pueden estar presentes otras alteraciones cardíacas, como aleteo auricular o fibrilación y anomalías valvulares."},"it":{"name":"Sindrome da disritmia cronica atriale e intestinale","synonyms":["Malattia disritmia atriale cronica-motilità intestinale","Sindrome CAID"],"definition":"Si tratta di una malattia genetica rara, caratterizzata dall'insorgenza concomitante della malattia del nodo del seno (che si manifesta con bradicardia sinusale e spesso rende necessario il pacemaker) e di una pseudo-ostruzione intestinale cronica (di origine miogena o neurogena, che in genere rende necessaria la nutrizione parenterale totale). La malattia esordisce nelle prime quattro decadi di vita. I pazienti possono presentare anche altre cardiopatie, come il flutter o la fibrillazione atriale e anomalie valvolari."},"nl":{"name":"Chronische atriale en intestinale dysritmie-syndroom","synonyms":["CAID-syndroom","Chronische atriale dysritmie - intestinale motiliteitsstoornis"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door gelijktijdig optreden van sinusknoopziekte ('sick sinus'-syndroom) (die zich manifesteert als sinusbradycardie, en vaak implantatie van een pacemaker vereist) en chronische intestinale pseudo-obstructie (dat myogeen of neurogeen van oorsprong kan zijn en meestal totale parenterale voeding vereist), met een aanvangsleeftijd binnen de eerste vier levensdecennia. Overige kenmerken van hart, zoals atriumflutter of atriumfibrilleren en anomalieën van hartklep, kunnen ook aanwezig zijn."},"pt":{"name":"Síndrome de disritmia auricular e intestinal crónica"},"pl":{"name":"Zespół przewlekłej dysarytmii przedsionkowo i jelitowej","synonyms":["Przewlekła dysarytmia przedsionkowa-zaburzenia motoryki jelit","Zespół CAID"]},"cs":{"name":"Syndrom chronické atriální a intestinální dysrytmie","synonyms":["CAID syndrom","Chronická atriální dysrytmie a poruchy intestinální motility"]},"uk":{"name":"Синдром хронічної передсердної та кишкової дисритмії","synonyms":["CAID-синдром","Хронічна передсердна аритмія - порушення перистальтики кишечника"],"definition":"A rare genetic disease characterized by co-occurrence of sick sinus syndrome (manifesting as sinus bradycardia, often requiring pacemaker implantation) and chronic intestinal pseudo-obstruction (which may be of myogenic or neurogenic origin and usually requires total parenteral nutrition), with an age of onset within the first four decades of life. Other cardiac features, such as atrial flutter or fibrillation and valve anomalies, may also be present."},"zh":{"name":"慢性心房-肠道节律不齐综合征","synonyms":["慢性心律失常-肠动力障碍"]},"tr":{"name":"Kronik atriyal ve intestinal disritmi sendromu","synonyms":["CAID sendromu","Kronik atriyal disritmi-intestinal motilite bozukluğu"]}},"xrefs":[{"source":"OMIM","code":"616201","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K59.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BC80.20","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014528","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4015474","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12281","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10086078","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":101934,"name":"Genetic cardiac rhythm disease","classifications":[146,156]},{"orpha":165655,"name":"Genetic intestinal disease","classifications":[156]},{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[],"genes":[{"symbol":"SGO1","name":"shugoshin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25282101[PMID]","hgnc":"25088","ensembl":"ENSG00000129810","omim":"609168","loci":["3p24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"25282101[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25282101[PMID]"}],"phenotypes":null}