{"orpha":314376,"name":"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Meconium ileus due to guanylate cyclase 2C deficiency"],"definition":"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the <i>GUCY2C</i> gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314376/","orphanet_url":"https://www.orpha.net/en/disease/detail/314376","names":{"fr":{"name":"Occlusion intestinale du nouveau-né par déficit en guanylate cyclase 2C","synonyms":["Iléus méconial par déficit en guanylate cyclase 2C"],"definition":"Maladie gastroentérologique rare, autosomique récessive, rapportée jusqu'à présent dans trois familles et caractérisée par un iléus méconial sans autres signes de la mucoviscidose, y compris des manifestations pulmonaires ou pancréatiques. Deux des patients décrits ont développé une diarrhée chronique dans l'enfance. Des mutations homozygotes du gène <i>GUCY2C</i> (12p12) entraînant une réduction marquée ou l'absence d'activité enzymatique de la guanylate cyclase&nbsp;2C ont été trouvées chez les patients concernés. D'après les cas décrits, la pénétrance serait incomplète."},"de":{"name":"Intestinale Obstruktion des Neugeborenen durch Guanylatcyclasen 2C-Mangel","synonyms":["Mekoniumileus durch Guanylatcyclasen 2C-Mangel"],"definition":"Eine Darmobstruktion bei Neugeborenen aufgrund eines Guanylatcyclase-2C-Mangels ist eine äußerst seltene, autosomal-rezessive gastroenterologische Störung, die bisher bei drei Familien beobachtet wurde und durch einen Mekoniumileus ohne weitere Anzeichen einer Mukoviszidose (siehe diesen Begriff) einschließlich pulmonaler oder pankreatischer Manifestationen gekennzeichnet ist. Zwei der berichteten Patienten entwickelten im Säuglingsalter chronischen Durchfall. Bei den betroffenen Patienten wurden homozygote Mutationen im <i>GUCY2C</i>-Gen (12p12) festgestellt, die zu einer deutlichen Verringerung oder zum Fehlen der enzymatischen Aktivität der Guanylatcyclase 2C führten. Es wurde berichtet, dass die Krankheit eine partielle Penetranz aufweist."},"es":{"name":"Obstrucción intestinal en el recién nacido por deficiencia de guanilato-ciclasa 2C","synonyms":["Íleo meconial por deficiencia de guanilato-ciclasa 2C"],"definition":"Es un trastorno gastroenterológico extremadamente poco frecuente, autosómico recesivo, descrito hasta el momento en tres familias. Se caracteriza por íleo meconial sin indicios de fibrosis quística, así como manifestaciones pulmonares o pancreáticas. Dos de los pacientes desarrollaron diarrea crónica en la lactancia. Se han descrito mutaciones en homocigosis en el gen <i>GUCY2C</i> (12p12) que ocasionan una reducción significativa, o incluso ausencia, de la actividad enzimática de la guanilato ciclasa 2C en los afectados, con una penetrancia incompleta de la enfermedad."},"it":{"name":"Ostruzione intestinale nel neonato da deficit di guanilato ciclasi 2C","synonyms":["Ileo meconiale da deficit di guanilato ciclasi 2C"],"definition":"L'ostruzione intestinale nel neonato da deficit di guanilato ciclasi 2C è una malattia gastrointestinale molto rara a trasmissione autosomica recessiva, descritta in tre famiglie. È caratterizzata da ileo da meconio in assenza di altri segni clinici indicativi della fibrosi cistica (si veda questo termine), compresi i segni clinici polmonari o pancreatici. Due dei pazienti descritti hanno sviluppato diarrea cronica nel periodo neonatale. Nei pazienti sono state individuate mutazioni omozigoti nel gene<i>GUCY2C</i> (12p12), responsabili di una notevole riduzione o dell'assenza dell'attività dell'enzima della guanilato ciclasi 2C. La malattia ha una penetranza parziale."},"nl":{"name":"Intestinale obstructie bij neonaat door gyanylaatcyclase 2C-deficiëntie","synonyms":["Meconiumileus door guanylaatcyclase 2C-deficiëntie"],"definition":"Intestinale obstructie bij de pasgeborene door guanylaatcyclase 2C-deficiëntie is een uiterst zeldzame, autosomaal recessieve, gastro-enterologische stoornis die tot op heden werd gerapporteerd bij drie families, en die gekarakteriseerd wordt door meconiumileus zonder enige andere stigmata van cystische fibrose (zie deze term) inclusief pulmonale of pancreatische manifestaties. Twee van de gerapporteerde patiënten ontwikkelden chronische diarree in de zuigelingentijd. Homozygote mutaties in het gen <i>GUCY2C</i> (12p12) die leiden tot aanzienlijke vermindering of afwezigheid van enzymatische activiteit van guanylaatcyclase 2C werden aangetroffen in de getroffen patiënten. Er werd gerapporteerd dat de ziekte partiële penetrantie vertoont."},"pt":{"name":"Obstrução intestinal no recém-nascido por deficiência de guanilato ciclase 2C","synonyms":["Íleo meconial por deficiência de guanilato ciclase 2C"]},"pl":{"name":"Niedrożność jelita u noworodka z powodu niedoboru cyklazy guanylowej 2C","synonyms":["Niedrożność smółkowa z powodu niedoboru cyklazy guanylowej 2C"]},"cs":{"name":"Mekoniový ileus způsobený deficitem guanylátcyklázy 2C","synonyms":["Střevní obstrukce u novorozence způsobená deficitem guanylátcyklázy 2C"]},"uk":{"name":"Кишкова непрохідність у новонароджених внаслідок дефіциту гуанілатциклази 2С","synonyms":["Меконіальний ілеус внаслідок дефіциту гуанілатциклази 2С"],"definition":"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is an extremely rare, autosomal recessive, gastroenterological disorder reported in three families so far that is characterized by meconium ileus without any further stigmata of cystic fibrosis (see this term) including pulmonary or pancreatic manifestations. Two of the reported patients developed chronic diarrhea in infancy. Homozygous mutations in the <i>GUCY2C</i> gene (12p12) leading to marked reduction or absence of enzymatic activity of guanylate cyclase 2C were found in the affected patients. The disease was reported to show partial penetrance."},"zh":{"name":"鸟苷酸环化酶2C缺乏所致新生儿肠梗阻","synonyms":["鸟苷酸环化酶2C缺乏所致胎粪性肠梗阻"],"definition":"鸟苷酸环化酶2C缺乏引起的新生儿肠梗阻是一种极为罕见的常染色体隐性遗传性胃肠疾病，迄今已有三个家族报道，其特征是胎粪性肠梗阻，没有其它囊性纤维化（见本术语）的特征，包括肺和胰腺表现。报告的两名患者在婴儿期出现慢性腹泻。GUCY2C基因GUCY2C（12p12）纯合子突变导致患者体内鸟苷酸环化酶2C活性显著降低或缺失。据报道，该病有部分外显。"},"tr":{"name":"Yenidoğanda guanilat siklaz 2C eksikliğine bağlı bağırsak tıkanıklığı","synonyms":["Guanilat siklaz 2C eksikliğine bağlı mekonyum ileus"]}},"xrefs":[{"source":"OMIM","code":"614665","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P76.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KB87.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013843","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518781","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104009,"name":"Rare disease involving intestinal motility","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"GUCY2C","name":"guanylate cyclase 2C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22521417[PMID]","hgnc":"4688","ensembl":"ENSG00000070019","omim":"601330","loci":["12p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"22521417[PMID]_25370039[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22521417[PMID]_25370039[PMID]"}],"phenotypes":null}