congenital malabsorptive diarrhea 4
Findings
No curated finding names congenital malabsorptive diarrhea 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.
Definition from the Mondo Disease Ontology (MONDO:0012479), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
34 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.
- Abnormality of the liverHPOHP:0001392
- 1 of 1 reported patient
- DehydrationHPOHP:0001944
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Enteric anendocrinosisHPOHP:6001346
- 3 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Fat malabsorptionHPOHP:0002630
- 1 of 1 reported patient
- HepatitisHPO
Genes
1 gene
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.
- NEUROG3HGNC:13806
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
9 names
Resolves to: congenital malabsorptive diarrhea 4
- Also called
- congenital diarrhea caused by mutation in NEUROG3congenital diarrhoea caused by mutation in NEUROG3congenital malabsorptive diarrhea due to paucity of enteroendocrine cellscongenital malabsorptive diarrhea type 4congenital malabsorptive diarrhoea due to paucity of enteroendocrine cellscongenital malabsorptive diarrhoea type 4enteric anendocrinosisNEUROG3 congenital diarrheaNEUROG3 congenital diarrhoea