{"orpha":565641,"name":"Primary desmosis coli","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aplastic desmosis coli"],"definition":"A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-565641/","orphanet_url":"https://www.orpha.net/en/disease/detail/565641","names":{"fr":{"name":"Desmosis coli primaire","synonyms":["Desmosis coli aplasique"],"definition":"Maladie intestinale rare caractérisée par une absence congénitale partielle ou complète du réseau de mailles de collagène dans la paroi intestinale, entraînant une hypopéristaltisme ou un apéristaltisme. Le système nerveux entérique est normal ou quasi normal au niveau des sites affectés, bien que dans certains segments proximaux du côlon et/ou de l'intestin grêle, on observe une hypoganglionose et dysganglionose. Les patients présentent une constipation chronique intraitable de transit lent."},"de":{"name":"Desmosis coli, primäre","synonyms":["Desmosis coli, aplastische"],"definition":"Eine seltene Darmerkrankung, die durch ein angeborenes teilweises oder vollständiges Fehlen des kollagenen Maschennetzes in der Darmwand gekennzeichnet ist, was zu einer Hypoperistaltik oder Aperistaltik führt. Das enterische Nervensystem ist in den betroffenen Bereichen normal oder nahezu normal, obwohl in einigen proximalen Segmenten des Kolons und/oder Dünndarms Hypo- und Dysganglionose auftreten kann. Die Patienten leiden unter chronischer, hartnäckiger Verstopfung mit langsamem Transit."},"es":{"name":"Desmosis coli primaria","synonyms":["Desmosis coli aplásica"],"definition":"Es una enfermedad intestinal poco frecuente caracterizada por una ausencia congénita total o parcial de la red de malla de colágeno en la pared intestinal, resultando en hipo- o aperistalsis. El sistema nervioso entérico es normal o casi normal en las áreas afectadas, aunque es posible encontrar hipo- y disganglionosis en algunos segmentos proximales del colon y/o del intestino delgado. Los pacientes se presentan con estreñimiento crónico intratable de tránsito lento."},"it":{"name":"Desmosi primaria del colon","synonyms":["Desmosi colica aplastica"],"definition":"Si tratta di una malattia intestinale rara, caratterizzata dall'agenesia congenita, parziale o totale, della rete del collagene nella parete intestinale, con conseguente ipoperistalsi o aperistalsi. Nelle zone interessate, il sistema nervoso enterico è normale o quasi normale, sebbene in alcuni segmenti prossimali del colon e/o dell'intestino tenue siano presenti ipo- e disganglionosi. I pazienti presentano costipazione cronica non trattabile da transito lento."},"nl":{"name":"Primaire desmosis coli","synonyms":["Aplastische desmosis coli"],"definition":"Een zeldzame aandoening van darm, gekarakteriseerd door congenitaal partieel of volledig gebrek aan een fijnmazig netwerk van collageen in darmwand, wat resulteert in hypoperistaltiek of aperistaltiek. Enterisch zenuwstelsel is normaal of bijna normaal in aangetaste gebieden, hoewel hypo- en dysganglionose kan aangetroffen worden in enkele proximale segmenten van colon en/of dunne darm. Patiënten presenteren zich met chronische refractaire constipatie door trage doorgang."},"pt":{"name":"Desmose colónica primária"},"pl":{"name":"Pierwotne desmosis coli","synonyms":["Aplastic desmosis coli"]},"cs":{"name":"Primární desmosis coli","synonyms":["Aplastic desmosis coli"]},"uk":{"name":"Первинна desmosis coli","synonyms":["Апластична десмотична паличка"],"definition":"A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation."},"zh":{"name":"原发性结肠结缔组织病","synonyms":["结肠结缔组织发育不全"]},"tr":{"name":"Primer desmosis coli","synonyms":["Aplastik desmoz koli"]}},"xrefs":[{"source":"ICD-10","code":"Q43.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB32.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034846","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680125","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}