SEC61A1 deficiency

MONDO:0100337

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.

Also known as: SEC61A1 deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with SEC61A1 deficiency itself.

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↑ Hereditary disease (18187)

Sub-types of SEC61A1 deficiency

Hyperuricemic nephropathy, familial juvenile type 4 0 trials
Immunodeficiency, common variable, 15 0 trials

Including sub-types (0) Tagged with SEC61A1 deficiency (0)

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