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

General Information (adopted from Orphanet):

Synonyms, Signs: Meconium ileus due to guanylate cyclase 2C deficiency
Number of Symptoms 7
OrphanetNr: 314376
OMIM Id: 614665
ICD-10: P76.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital intestinal motility disorder
 -Rare gastroenterologic disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0004388) Microcolon 5 / 7739
2
(HPO:0004401) Meconium ileus 4 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(OMIM) Failure to pass meconium after birth 1 / 7739
5
(OMIM) Prolonged diarrhea in infancy (in some patients) 1 / 7739
6
(OMIM) Inspissated meconium in distal ileum 1 / 7739
7
(OMIM) Normal sweat electrolytes 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Tal et al. (1985) reported a consanguineous Bedouin family in which 4 of 12 sibs had meconium ileus with normal sweat electrolytes. Two of the affected sibs also developed chronic diarrhea in infancy, 1 of whom died at ...
Molecular genetics OMIM In a large Bedouin kindred with meconium ileus mapping to chromosome 12p13, originally reported by Tal et al. (1985), Romi et al. (2012) analyzed the candidate gene GUCY2C (601330) and identified homozygosity for a missense mutation (601330.0002) in ...