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Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

Summary

An extremely rare autosomal recessive gastroenterological disorder reported in three families so far characterized by meconium ileus without any further stigmata of cystic fibrosis 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. [from SNOMEDCT_US]

Available tests

5 tests are in the database for this condition.

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Clinical tests (5 available)

Molecular Genetics Tests

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  • Also known as: DIAR6, GC-C, GCC, GUC2C, HSER, MECIL, MUCIL, STAR, GUCY2C
    Summary: guanylate cyclase 2C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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