Disease - Diarrhea 10, protein-losing enteropathy type
- DefinitionAn autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities.
- AcronymDIAR10
- Cross references
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Browse 1 entry- Plasmalemma vesicle-associated protein · Gene: PLVAP (FELS, PV1) · Homo sapiens (Human) · 442 amino acids · Evidence at protein level · Annotation score: 5/5