Disease ID | Source | Name | Description |
618183 | OMIM | Diarrhea 10, protein-losing enteropathy type (DIAR10) | An 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. The disease is caused by variants affecting the gene represented in this entry. |