Details of Disease | DrugMAP

General Information of Disease (ID: DISW1LRN)

Disease Name	SEC61A1 deficiency
Synonyms	SEC61A1 deficiency
Definition	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.\|The term autosomal dominant tubulointerstitial kidney disease (ADTKD), is recommended to be used instead of familial juvenile hyperurecemic nephropathy.
Disease Hierarchy	DISYKSRF: Genetic disease DISWD40R: Disease DISW1LRN: SEC61A1 deficiency

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SEC61A1	OTLBE3CB	Moderate	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.