congenital diarrhea

Pathology

L

• paucity of enteroendocrine cells

Genetics

• diarrhea 11, malabsorptive, congenital (DIAR11) due to PERCC1 mutation

Clinical manifestations

• severe, life-threatening watery diarrhea associated with generalized malabsorption
• onset of intractable diarrhea within the first few weeks of life

More general terms

• diarrhea
• congenital anomaly (birth defect)
• genetic disease

Additional terms

• protein PERCC1; proline & glutamate-rich protein with a coiled coil domain (PERCC1)

Database

• OMIM: https://mirror.omim.org/entry/618662