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GENATLAS PHENOTYPE
last update : 08-12-2016
Symbol GIDID
Location 2p21
Name gastrointestinal defects and immunodeficiency syndrome
Corresponding gene TTC7A
Main clinical features
  • characterized by multiple intestinal atresia, in which atresia occurs at various levels throughout the small and large intestine
  • frequent inflammatory bowel disease (IBD), with or without intestinal atresia, and in some cases, the intestinal features are associated with either mild or severe combined immunodeficiency
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    digestive tract/gastrointestinal
    Type disease
    Remark(s) . TTC7A deficiency results in increased Rho kinase activity, which disrupts polarity, growth, and differentiation of intestinal epithelial cells, and which impairs immune cell homeostasis (PMID: 24292712))