IEMbase 0752: DGAT1-related diacylglycerol acyltransferase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 752 |
| Nosology | 14.4.05.01 |
| Nosology code | IEM0659 |
| Gene | DGAT1 |
| External IDs | OMIM:615863; ORPHA:329242 |
| Generated mapping | UNMAPPED; weak candidate Travelers_Diarrhea.yaml |
| Candidate DisMech targets | None exact |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase labels this autosomal recessive record as DGAT1-related diacylglycerol acyltransferase deficiency, with alternate name congenital diarrhea type 7. The source signal describes congenital enteropathy with protein loss and immune complications: chronic diarrhea, vomiting, failure to thrive, protein-losing enteropathy, recurrent infections, immunodeficiency, anemia, acidosis, elevated transaminases, hypoalbuminemia, and low serum IgG.
DisMech phenotype coverage
No exact DGAT1 / congenital diarrhea type 7 entry is present locally. Some DisMech entries include chronic diarrhea, protein-losing enteropathy, immune deficiency, or failure to thrive as phenotypes, but they do not represent this monogenic DGAT1 disorder.
The generated Travelers_Diarrhea.yaml candidate is a false positive. That
entry concerns infectious acute enterotoxigenic Escherichia coli diarrhea in
travelers, not congenital autosomal recessive DGAT1 deficiency.
Concordance and completeness
Judgement: true local gap.
The IEMbase record provides a strong phenotype cluster for DGAT1 disease and should be curated separately from infectious diarrhea or nonspecific protein-losing enteropathy contexts.
Curation actions
- Add a distinct DGAT1 / congenital diarrhea type 7 target before treating this IEMbase disease as covered.
- Reject
Travelers_Diarrhea.yamlas exact or phenotype-level disease coverage. - Preserve chronic diarrhea, protein-losing enteropathy, hypoalbuminemia, low IgG, recurrent infections, immunodeficiency, failure to thrive, and transaminase elevation as high-priority prompts.