congenital diarrhea 7 with exudative enteropathy

info · Genetic · ICD-10: P78.3

A congenital diarrhea characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas that has_material_basis_in homozygous or compound heterozygous mutation in the DGAT1 gene on chromosome 8q24.

Signs and symptoms

Diarrhea
Protein-losing enteropathy
Hypercholesterolemia
Hyperlipidemia
Abdominal colic
Villous atrophy
Vomiting
Failure to thrive
Hypoalbuminemia

Also known as: congenital chronic diarrhea with exudative enteropathy; congenital chronic diarrhea with protein-losing enteropathy; congenital chronic diarrhoea with exudative enteropathy; congenital chronic diarrhoea with protein-losing enteropathy; congenital diarrhoea 7 with exudative enteropathy