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

MedGen UID:: 1390359
•Concept ID:: C4518781
•: Disease or Syndrome

Synonyms:	GUCY2C meconium ileus; Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency; intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency; meconium ileus caused by mutation in GUCY2C; Meconium ileus due to guanylate cyclase 2C deficiency; meconium ileus due to guanylate cyclase 2C deficiency
SNOMED CT:	Meconium ileus due to guanylate cyclase 2C deficiency (733447005); Intestinal obstruction in newborn due to guanylate cyclase 2C deficiency (733447005)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GUCY2C (12p12.3)

Monarch Initiative:	MONDO:0013843
OMIM®:	614665
Orphanet:	ORPHA314376

Definition

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]

Clinical features

From HPO

Microcolon

MedGen UID:: 82734
•Concept ID:: C0266200
•: Congenital Abnormality

A colon of abnormally small caliber.

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Chronic diarrhea

MedGen UID:: 96036
•Concept ID:: C0401151
•: Finding

The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.

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Meconium ileus

MedGen UID:: 473705
•Concept ID:: C2939175
•: Disease or Syndrome

Meconium ileus refers to intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium (summary by Romi et al., 2012). Meconium ileus is a known clinical manifestation of cystic fibrosis (CF; 219700), and meconium ileus in the absence of CF is a rare phenomenon (summary by Tal et al., 1985).

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Abnormal sweat electrolytes