has material basis in germline mutation in SEC61A1 disease hereditary disease SEC61A1 deficiency Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia. SEC61A1 deficiency The term autosomal dominant tubulointerstitial kidney disease (ADTKD), is recommended to be used instead of familial juvenile hyperurecemic nephropathy. MONDO:0100337