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References OMIM Gene GeneReviews HGMD HGNC
last update : 11-10-2018
Symbol DIAR8
Location 5p15.33
Name diarrhea 8, secretory sodium, congenital
Other name(s)
  • Congenital sodium diarrhea
  • Corresponding gene SLC9A3
    Other symbol(s) CSD
    Main clinical features
  • secretory sodium diarrhea; maternal polyhydramnios in all pregnancies, and all patients had watery secretory diarrhea and prominent abdominal distension after birth due to dilated fluid-filled loops of intestine, indicating that secretory diarrhea had begun prenatally
  • any patients developed inflammatory bowel disease (IBD) in infancy
  • Genetic determination autosomal recessive
    Function/system disorder digestive tract/gastrointestinal
    Type disease