Meconium ileus is a manifestation of intestinal and pancreatic dysfunction that results in the accumulation of sticky and inspissated intraluminal meconium, which in most cases results from cystic fibrosis [DS:H00218]. An autosomal-recessive phenotype of meconium ileus that is not associated with cystic fibrosis has been reported. It is caused by mutations in GUCY2C, which encodes guanylyl cyclase 2C. GUCY2C is a regulator of ion and fluid balance in the intestine.
Category
Digestive system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
19 Certain conditions originating in the perinatal period
Digestive system disorders of fetus or newborn
KB87 Intestinal obstruction of newborn
H03054 Meconium ileus
