congenital diarrhea 7 with exudative enteropathy
Findings
No curated finding names congenital diarrhea 7 with exudative enteropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.
Definition from the Mondo Disease Ontology (MONDO:0014375), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal colicHPOHP:0011848
- 2 of 2 reported patients
- DiarrheaHPOHP:0002014
- 2 of 2 reported patients · Neonatal onset
- HypercholesterolemiaHPOHP:0003124
- 2 of 2 reported patients
- HyperlipidemiaHPOHP:0003077
- 2 of 2 reported patients
- Protein-losing enteropathyHPOHP:0002243
- 2 of 2 reported patients
- Villous atrophyHPOHP:0011473
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DGAT1HGNC:2843
- Definitive · G2P · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- PLVAPHGNC:13635
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
10 names
Resolves to: congenital diarrhea 7 with exudative enteropathy
- Also called
- congenital chronic diarrhea with exudative enteropathycongenital chronic diarrhea with protein-losing enteropathycongenital diarrhea caused by mutation in DGAT1congenital diarrhoea caused by mutation in DGAT1DGAT1 congenital diarrheaDGAT1 congenital diarrhoeadiarrhea 7, protein-losing enteropathy typediarrhea type 7diarrhoea 7, protein-losing enteropathy typediarrhoea type 7