diarrhea 10, protein-losing enteropathy type
MONDO:0032586Mondo
Findings
No curated finding names diarrhea 10, protein-losing enteropathy type 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
- Death in infancy · Neonatal onset
HPO, annotations 2026-09-02
Features
19 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.
- AnasarcaHPOHP:0012050
- 1 of 1 reported patient
- AscitesHPOHP:0001541
- 1 of 1 reported patient
- ColobomaHPOHP:0000589
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 1 of 1 reported patient
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- HematocheziaHPOHP:0002573
- 1 of 1 reported patient
- HypertriglyceridemiaHPOHP:0002155
- 1 of 1 reported patient
- HypoalbuminemiaHPOHP:0003073
- 1 of 1 reported patient
- HyponatremiaHPOHP:0002902
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
Show the remaining 7
- Metabolic acidosisHPOHP:0001942
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Pleural effusionHPOHP:0002202
- 1 of 1 reported patient
- Protein-losing enteropathyHPOHP:0002243
- 1 of 1 reported patient
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 1 of 1 reported patient
- Renal dysplasiaHPOHP:0000110
- 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.
- PLVAPHGNC:13635
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of