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Keyword - Ciliopathy (KW-1186)

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Protein which, if defective, causes any one of a group of diseases associated with either abnormal formation or function of cilia. Ciliopathies cover a large spectrum of often overlapping phenotypes ranging from relatively mild, tissue-restricted pathologies to severe defects in multiple organs. Although cilia play important roles in many tissues, the predominantly affected organs are kidney, eye, liver and brain. Clinical features typically include retinal degeneration, renal disease and cerebral anomalies. Additional manifestations include congenital fibrocystic diseases of the liver, diabetes, obesity and skeletal dysplasias. Ciliary dysfunction in the embryo may cause randomization of left-right body asymmetry or situs inversus, as well as severe malformations leading to embryonic lethality.




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