diarrhea 13
MONDO:0957253Mondo
Findings
No curated finding names diarrhea 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
7 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.
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 5 of 5 reported patients
- Failure to thriveHPOHP:0001508
- 5 of 5 reported patients
- Hepatic steatosisHPOHP:0001397
- 5 of 5 reported patients
- HypoalbuminemiaHPOHP:0003073
- 5 of 5 reported patients
- Recurrent hypoglycemiaHPOHP:0001988
- 5 of 5 reported patients
- Secretory diarrheaHPOHP:0005208
- 5 of 5 reported patients
- VomitingHPOHP:0002013
- 5 of 5 reported patients
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.
- ACSL5HGNC:16526
- Moderate · LiferaOmics · Autosomal recessive · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of