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GENATLAS PHENOTYPE |
last update : 06-12-2023 |
Symbol | GIDID |
Location | 2p21 |
Name | gastrointestinal defects and immunodeficiency syndrome |
Corresponding gene | TTC7A |
Main clinical features |
|
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)) |