Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Synonyms: Meconium ileus due to guanylate cyclase 2C deficiency
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 GUCY2C 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency?
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