{"orpha":468635,"name":"Cryptogenic multifocal ulcerous stenosing enteritis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CMUSE"],"definition":"A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-468635/","orphanet_url":"https://www.orpha.net/en/disease/detail/468635","names":{"fr":{"name":"Entérite sténosante ulcéreuse multifocale cryptogénétique","synonyms":["CMUSE","Entérite sténosante ulcéreuse plurifocale cryptogénétique"],"definition":"Maladie intestinale rare caractérisée par un subiléus ou un iléus chronique ou récidivant résultant de multiples sténoses fibreuses inexpliquées et de multiples ulcérations peu profondes (i.e. limitées à la muqueuse ou à la sous-muqueuse) de l'intestin grêle (principalement l'iléon), en l'absence de signes de réaction inflammatoire systémique. Les patients peuvent présenter une anémie ferriprive chronique due à une perte de sang intestinale chronique, des douleurs abdominales chroniques récurrentes, de la fatigue, des oedèmes ou un retard de croissance. Une symptomatologie extra-intestinale, telle que le syndrome sicca, les polyarthralgies ou le phénomène de Raynaud peut également être observée."},"de":{"name":"Kryptogene multifokale ulzeröse stenosierende Enteritis","synonyms":["CMUSE"],"definition":"Eine seltene Darmerkrankung, die durch einen chronischen oder rezidivierenden Subileus oder Ileus gekennzeichnet ist, der durch multiple unerklärliche fibröse Strikturen und multiple oberflächliche (d. h. auf die Mukosa oder Submukosa beschränkte) Ulzerationen des Dünndarms (hauptsächlich des Ileums) entsteht, ohne dass Anzeichen einer systemischen Entzündungsreaktion vorliegen. Die Patienten können eine chronische Eisenmangelanämie aufgrund eines chronischen Blutverlustes im Darm, chronisch wiederkehrende Bauchschmerzen, Müdigkeit, Ödeme oder eine Wachstumsverzögerung aufweisen. Extraintestinale Manifestationen wie Sicca-Syndrom, Polyarthralgie oder Raynaud-Phänomen können ebenfalls beobachtet werden."},"es":{"name":"Enteritis ulcerativa estenosante multifocal criptogénica","synonyms":["CMUSE","Enteritis estenosante ulcerosa multifocal criptogénica"],"definition":"Es una enfermedad intestinal poco frecuente caracterizada por íleo o subíleo recurrente o crónico, resultante de múltiples estenosis fibrosas inexplicables y de múltiples úlceras superficiales (limitadas a la mucosa o la submucosa) en el intestino delgado (principalmente el íleon), en ausencia de signos de reacción inflamatoria sistémica. Los pacientes pueden presentar anemia crónica por deficiencia de hierro debido a la pérdida crónica de sangre intestinal, dolor abdominal crónico recurrente, cansancio, edema o retraso del crecimiento. También se pueden observar manifestaciones extraintestinales tales como el síndrome de Sicca, poliartralgia o fenómeno de Raynaud."},"it":{"name":"Enterite stenosante ulcerosa multifocale criptogenica","definition":"Si tratta di una malattia intestinale rara, con subileo o ileo cronico o recidivante, secondario a stenosi fibrose multiple apparentemente inspiegabili e ulcerazioni superficiali multiple (limitate alla mucosa o alla sottomucosa) dell'intestino tenue (soprattutto dell'ileo), in assenza di una reazione infiammatoria sistemica. I pazienti possono presentare anemia cronica da deficit di ferro secondaria alle emorragie intestinali croniche, dolore addominale cronico ricorrente, affaticamento, edema o ritardo della crescita. Può associarsi a sintomi extraintestinali come la sindrome sicca, la poliartralgia o il fenomeno di Raynaud."},"nl":{"name":"Cryptogene multifocale ulcereuze stenoserende enteritis","synonyms":["CMUSE"],"definition":"Een zeldzame aandoening van darm, gekarakteriseerd door chronische of recidiverende subileus of ileus als gevolg van multipele onverklaarbare fibreuze stricturen en multipele ondiepe (i. e. beperkt tot mucosa of submucosa) ulceraties van dunne darm (voornamelijk ileum), in afwezigheid van verschijnselen van een systemische inflammatoire reactie. Patiënten kunnen zich presenteren met chronische anemie door ijzertekort als gevolg van chronisch intestinaal bloedverlies, chronische recidiverende abdominale pijn, vermoeidheid, oedeem, of groeiretardatie. Extra-intestinale manifestaties zoals siccasyndroom, polyartralgie, of fenomeen van Raynaud worden mogelijk ook waargenomen."},"pt":{"name":"Enterite ulcerativa estenosante multifocal criptogénica"},"pl":{"name":"Kryptogenne wieloogniskowe wrzodziejące zwężające zapalenie jelit","synonyms":["CMUSE"]},"cs":{"name":"Kryptogenní multifokální ulcerózní stenozující enteritida","synonyms":["CMUSE"]},"uk":{"name":"Криптогенний мультифокальний виразковий стенозуючий ентерит","synonyms":["CMUSE"],"definition":"A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed."},"zh":{"name":"隐源性多灶性溃疡性狭窄性肠炎","synonyms":["CMUSE"]},"tr":{"name":"Kriptojenik multifokal ülseröz stenoz enterit","synonyms":["CMUSE"]}},"xrefs":[{"source":"ICD-10","code":"K63.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA94.02","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1401898155"},{"source":"MONDO","code":"0018765","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302263","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":165655,"name":"Genetic intestinal disease","classifications":[156]},{"orpha":506216,"name":"Rare disorder potentially indicated for bowel transplant","classifications":[233]},{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[],"genes":[{"symbol":"PLA2G4A","name":"phospholipase A2 group IVA","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23268370[PMID]","hgnc":"9035","ensembl":"ENSG00000116711","omim":"600522","loci":["1q31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"24369459[PMID]_25708899[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24369459[PMID]_25708899[PMID]"}],"phenotypes":null}