This website provides information on patients with disease-causing variants in the ARMC5 gene, including clinical data, molecular data, management and research options.

The condition caused by pathogenic variants in the ARMC5 gene, a tumor suppressor, is characterized by the development of primary bilateral macronodular adrenocortical hyperplasia (PBMAH), which is a rare cause of ACTH-independent Cushing syndrome. Disease presentation is a spectrum, ranging from asymptomatic incidental findings of bilateral adrenal nodules on imaging to subclinical or overt hypercortisolism with or without mineralocorticoid excess. The most common gene leading to PBMAH is ARMC5. To develop PBMAH the carrier of an inherited pathogenic variant must present a second pathogenic variant occurring in his/her adrenal gland tissue. Not all individuals with a disease-causing variant in the ARMC5 gene have these features. The disease manifests clinically in late adulthood, and almost never in children. The penetrance of ARMC5 is unknown. The inheritance follows an autosomal dominant pattern or can be sporadic.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with disease-causing variants in the ARMC5 gene.

Rachel Wurth, Post-doc, Stratakis Laboratory, NICHD, NIH, Bethesda, Maryland, USA, Rachel.wurth@nih.gov

Fady Hannah-Shmouni, MD FRCPC, Principal Investigator, Stratakis Laboratory, Bethesda, Maryland, USA, fady.hannah-shmouni@nih.gov

Fabio R. Faucz, PhD, Staff Scientist, Stratakis Laboratory, Bethesda, Maryland, USA, fabio.faucz@nih.gov

Constantine A. Stratakis, MD D(Med) Sci, Senior Investigator, Stratakis Laboratory, Bethesda, Maryland, USA, stratakc@cc1.nichd.nih.gov