{"orpha":314373,"name":"Chronic infantile diarrhea due to guanylate cyclase 2C overactivity","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314373/","orphanet_url":"https://www.orpha.net/en/disease/detail/314373","names":{"fr":{"name":"Diarrhée chronique infantile par hyperactivité de la guanylate cyclase 2C","definition":"Maladie intestinale rare d'origine génétique caractérisée par une diarrhée chronique à début précoce et une inflammation intestinale due à une hyperactivité de la guanylate cyclase 2C. Parmi les autres manifestations figurent : météorisme, déshydratation, acidose métabolique et troubles électrolytiques. La dysmotilité intestinale, l'obstruction de l'intestin grêle et l'oesophagite (avec ou sans hernie oesophagienne), ainsi que le syndrome du côlon irritable (sans douleurs abdominales sévères) et la maladie de Crohn sont fréquemment associés."},"de":{"name":"Diarrhoe, chronische, infantile, durch Guanylatcyclase 2C-Überaktivität","definition":"Eine seltene, genetisch bedingte Darmerkrankung, die durch früh einsetzende, chronische Diarrhöe und Darmentzündung aufgrund einer Überaktivität der Guanylatzyklase 2C gekennzeichnet ist. Zu den weiteren Symptomen gehören Meteorismus, Dehydratation, metabolische Azidose und Elektrolytstörungen. Intestinale Dysmotilität, Dünndarmobstruktion und Ösophagitis (mit oder ohne Ösophagushernie) sowie Reizdarmsyndrom (ohne starke Bauchschmerzen) und Morbus Crohn sind häufig assoziiert."},"es":{"name":"Diarrea crónica infantil por hiperactividad de la guanilato-ciclasa 2C","definition":"Es una enfermedad intestinal, genética y poco frecuente, caracterizada por diarrea crónica e inflamación intestinal de inicio temprano debido a la hiperactividad de la guanilato-ciclasa 2C. Otras manifestaciones adicionales incluyen meteorismo, deshidratación, acidosis metabólica y alteraciones electrolíticas. Esta enfermedad se asocia con frecuencia a dismotilidad intestinal, obstrucción del intestino delgado y esofagitis (con o sin hernia esofágica), así como al síndrome del intestino irritable (sin dolor abdominal intenso) y a la enfermedad de Crohn."},"it":{"name":"Diarrea cronica infantile da iperattività della guanilato ciclasi 2C","definition":"È una malattia intestinale genetica rara, caratterizzata da diarrea cronica ad esordio precoce e infiammazione intestinale da iperattività della guanilato ciclasi 2C. Altri segni clinici sono il meteorismo, la disidratazione, l'acidosi metabolica e gli squilibri elettrolitici. Spesso si associa ad alterazioni della motilità intestinale, ostruzione dell'intestino tenue, esofagite (con o senza ernia esofagea), sindrome dell'intestino irritabile (in assenza di un marcato dolore addominale) e malattia di Crohn."},"nl":{"name":"Chronische infantiele diarree door guanylaatcyclase 2C-overactiviteit","definition":"Een zeldzame, genetische, intestinale ziekte die gekarakteriseerd wordt door vroeg aanvangende, chronische diarree en intestinale inflammatie als gevolg van overmatige activiteit van guanylaatcyclase 2C. Bijkomende manifestaties zijn onder meer meteorisme, dehydratie, metabole acidose en storingen van het elektrolytenevenwicht. Intestinale dismotiliteit, obstructie van de dunne darm en oesofagitis (met of zonder oesofageale hernia), alsook prikkelbare-darmsyndroom (zonder ernstige buikpijn) en ziekte van Crohn, zijn frequent geassocieerd."},"pt":{"name":"Diarreia crónica da infância por hiperatividade da guanilato ciclase 2C"},"pl":{"name":"Przewlekła biegunka wieku dziecięcego z powodu nadaktywności cyklazy guanylatowej 2C"},"cs":{"name":"Chronický průjem způsobený zvýšenou aktivitou guanylátcyklázy 2C"},"uk":{"name":"Хронічна інфантильна діарея внаслідок гіперактивності гуанілатциклази 2С","definition":"A rare, genetic, intestinal disease characterized by early-onset, chronic diarrhea and intestinal inflammation due to overactivity of guanylate cyclase 2C. Additional manifestations include meteorism, dehydration, metabolic acidosis and electrolyte disturbances. Intestinal dysmotility, small-bowel obstruction and esophagitis (with or without esophageal hernia), as well as irritable bowel syndrome (without severe abdominal pain) and Crohn's disease, are frequently associated."},"zh":{"name":"鸟苷酸环化酶2C亢进慢性婴儿腹泻","definition":"一种罕见的遗传性肠道疾病，其特征是鸟苷酸环化酶2C亢进引起的早期慢性腹泻和肠道炎症。其他表现包括腹胀、脱水、代谢性酸中毒和电解质紊乱。也常表现为肠动力障碍、小肠梗阻和食管炎（伴或不伴食管疝），以及肠易激综合征（无严重腹痛）和克罗恩病。"},"tr":{"name":"Guanilat siklaz 2C aşırı aktivitesinden kaynaklanan kronik infantil diyare"}},"xrefs":[{"source":"OMIM","code":"614616","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013825","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191644","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":717865,"name":"Rare congenital/chronic/intractable diarrhea with inflammatory bowel disease","classifications":[152,156,233]},{"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":"22436048[PMID]","hgnc":"4688","ensembl":"ENSG00000070019","omim":"601330","loci":["12p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":32.0,"area":"Worldwide","status":"Validated","source":"22436048[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}