Skip to content
Use your HSA or FSA funds

Condition report · Gastrointestinal

Congenital Diarrhea and Enteropathies

A group of rare inherited disorders of the intestinal lining that cause severe, persistent diarrhoea or poor nutrient absorption, usually starting in the first weeks of life. Identifying the specific cause guides treatment and family counselling.

A condition report looks for rare variants known to cause the conditions it covers.

Included in Premium and Premium + AI

Premium adds $99 per kit for the first year.

Order with Premium

The 3 conditions we analyse

Congenital diarrhoea

Inherited conditions, including congenital chloride diarrhoea (SLC26A3), microvillus inclusion disease (MYO5B), tufting enteropathy (EPCAM) and congenital sodium diarrhoea (SPINT2, SLC9A3), that cause chronic diarrhoea from early infancy.

What a diagnosis changes

A specific diagnosis directs treatment such as electrolyte replacement for chloride diarrhoea, or early planning for parenteral nutrition or intestinal transplant in microvillus inclusion disease and tufting enteropathy.

Genes analysed

Also known as

diarrhea, congenital

Includes 20 related subtypes ↓
  • congenital diarrhea 5 with tufting enteropathy
  • congenital diarrhea 6
  • congenital diarrhea 7 with exudative enteropathy
  • congenital malabsorptive diarrhea 4
  • congenital secretory chloride diarrhea 1
  • congenital secretory diarrhea
  • congenital secretory sodium diarrhea 3
  • congenital secretory sodium diarrhea 8
  • congenital sodium diarrhea
  • diarrhea 10, protein-losing enteropathy type
  • diarrhea 11, malabsorptive, congenital
  • diarrhea 12, with microvillus atrophy
  • diarrhea 13
  • diarrhea 14, congenital
  • diarrhea 15, congenital
  • diarrhea 9
  • glucose intolerance
  • glucose-galactose malabsorption
  • microvillus inclusion disease
  • syndromic congenital sodium diarrhea
MONDO:0000824MedGen 1877146

Congenital enteropathy due to enteropeptidase deficiency

Autosomal recessive

A deficiency of the intestinal enzyme enteropeptidase, caused by TMPRSS15 variants, that prevents activation of pancreatic digestive enzymes.

What a diagnosis changes

Pancreatic enzyme replacement is effective.

Genes analysed

Also known as

congenital enterokinase deficiency

MONDO:0009173OMIM 226200Orphanet 168601MedGen 82802

Intestinal obstruction in the newborn due to GUCY2C deficiency

Autosomal recessive

Loss of function of the GUCY2C receptor that causes meconium ileus or bowel obstruction in newborns.

What a diagnosis changes

A diagnosis explains neonatal obstruction that is not due to cystic fibrosis.

Genes analysed

Also known as

GUCY2C meconium ileus; meconium ileus; meconium ileus caused by mutation in GUCY2C; meconium ileus due to guanylate cyclase 2C deficiency

MONDO:0013843OMIM 614665Orphanet 314376MedGen 1390359

Limitations

  • Tufting enteropathy requires variants in both copies of EPCAM. Deletions at the 3' end of EPCAM instead cause Lynch syndrome; these are copy-number changes that depend on CNV calling and are covered by the Lynch syndrome report.
  • Glucose-galactose malabsorption falls within the congenital diarrhoea group and is also covered by its own report.

Other gastrointestinal conditions

All conditions →

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Premium adds $99 per kit for the first year.

Order with Premium