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intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

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

MONDO:0013843

Also known as:meconium ileusGUCY2C meconium ileusmeconium ileus caused by mutation in GUCY2C

Overview

Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.

GeneticsAutosomal recessive · GUCY2C (chr 12)

Clinical Presentation

Features include common findings: Meconium ileus; and sometimes findings: Chronic diarrhea. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	1	Chronic diarrhea

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GUCY2C encodes guanylate cyclase 2C (1,073 aa). Guanylyl cyclase that catalyzes synthesis of cyclic GMP (cGMP) from GTP. Receptor for the E.coli heat-stable enterotoxin; E. Highest expression in Small Intestine Terminal Ileum (28.2 TPM) and Colon Transverse (21.5 TPM).

Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency is associated with mutations in the GUCY2C gene on chromosome 12.

The GUCY2C protein participates in GUCY2C trimer:sta1 and GUCY2C trimer:GUCA2A,B pathways.

GUCY2C is classified as a druggable target (Druggable Genome and Kinase categories) with score 19.6.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for GUCY2C is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency.

60 publications have been identified in PubMed for intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency. Research spans Case Report / Case Series (22%), Epidemiology / Natural History (22%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	13	22%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614665

Orphanet

European rare disease database

Orphanet:314376

GARD

Genetic and Rare Diseases Info Center

GARD:17418

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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