hereditary diarrhea type 2

Genetics

• associated with defects in MYO5B

Clinical manifestations

• onset of intractable life-threatening watery diarrhea during infancy
• two forms are recognized:
  • early-onset MVID with diarrhea beginning in the neonatal period
  • late-onset, with first symptoms appearing after 3 or 4 months of life

More general terms

• hereditary diarrhea
• secretory diarrhea

Database

• OMIM: https://mirror.omim.org/entry/251850