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GENATLAS PHENOTYPE
last update : 04-09-2018
Symbol DIAR9
Location 1p13.2
Name neonatal-onset chronic diarrhea, 9
Corresponding gene WNT2B
Main clinical features
  • severe, neonatal-onset osmotic diarrhea, parenteral nutrition (PN)-dependent diarrhea
  • duodenal ISCs from WNT2B-deficient samples have an intrinsic defect in their ability to expand
  • osmotic diarrhea that is not substrate specific (carbohydrate, fat, protein), abnormal crypt and villus architecture, and significant fat malabsorption evidenced by high levels of fecal fat
  • Genetic determination autosomal recessive
    Function/system disorder digestive tract/gastrointestinal
    Type disease
    Remark(s)
  • homozygous nonsense mutations in WNT2B demonstrate severe intestinal dysregulation associated with decreased intestinal stem cells (ISCs) number and function, likely explaining their diarrheal phenotype (PMID: 29909964))