diarrhea 12, with microvillus atrophy
MONDO:0030335Mondo
Findings
No curated finding names diarrhea 12, with microvillus atrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 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 distentionHPOHP:0003270
- 1 of 1 reported patient
- BronchiectasisHPOHP:0002110
- 1 of 1 reported patient
- Dependency on parenteral nutritionHPOHP:0033994
- 1 of 1 reported patient
- Metabolic acidosisHPOHP:0001942
- 2 of 2 reported patients
- Microvillar PAS-positive secretory granulesHPOHP:0033996
- 1 of 1 reported patient
- Microvillus inclusionsHPOHP:0033995
- 1 of 1 reported patient
- OsteopeniaHPOHP:0000938
- 1 of 1 reported patient
- Respiratory tract infectionHPOHP:0011947
- 1 of 1 reported patient
- Secretory diarrheaHPOHP:0005208
- 2 of 2 reported patients
- Villous atrophyHPOHP:0011473
- 2 of 2 reported patients
- VomitingHPOHP:0002013
- 1 of 1 reported patient
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.
- STX3HGNC:11438
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: diarrhea 12, with microvillus atrophy
- Also called
- DIAR12microvillus inclusion disease 2