Congenital Diarrhoea
Gene: PLVAP

PLVAP (plasmalemma vesicle associated protein)
EnsemblGeneIds (GRCh38): ENSG00000130300
EnsemblGeneIds (GRCh37): ENSG00000130300
OMIM: 607647, Gene2Phenotype
PLVAP is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Diarrhea-10 is a protein-losing enteropathy characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities. Some patients exhibit facial dysmorphism and cardiac and renal anomalies. Intrafamilial variability has been observed, and the disease can be severe, with death occurring in infancy in some patients.

Four unrelated families reported.
Created: 5 Jan 2021, 8:32 a.m. | Last Modified: 5 Jan 2021, 8:32 a.m.

Panel Version: 0.57

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diarrhea 10, protein-losing enteropathy type, MIM# 618183

Publications

Created: 5 Jan 2021, 8:32 a.m.
Last Modified: 5 Jan 2021, 8:32 a.m.
Panel version: 0.57

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Diarrhoea 10, protein-losing enteropathy type, MIM# 618183

OMIM

607647

Clinvar variants

Variants in PLVAP

Penetrance

None

Publications

Panels with this gene