Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Disease Synonyms Meconium ileus due to guanylate cyclase 2C deficiency Niedrożność smółkowa z powodu niedoboru cyklazy guanylowej 2C ORPHA code 314376 OMIM code 614665 ICD10 code P76.0 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl