GENETIC ENCYCLOPEDIA
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disease: Cryptorchidism

id1205
nameCryptorchidism
descriptionCryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
variant-disease NM_005543.4(INSL3):c.217C>T (p.Arg73Ter) AND Cryptorchidism
NM_005543.4(INSL3):c.304C>T (p.Arg102Cys) AND Cryptorchidism
NM_130806.5(RXFP2):c.664A>C (p.Thr222Pro) AND Cryptorchidism
NM_005543.4(INSL3):c.330C>G (p.Asn110Lys) AND Cryptorchidism
NM_005543.4(INSL3):c.278C>T (p.Pro93Leu) AND Cryptorchidism
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