{Reference Type}: Journal Article
{Title}: Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.
{Author}: Hanaki K;Kinoshita T;Fujimoto M;Sonoyama-Kawashima Y;Kanzaki S;Namba N;
{Journal}: Yonago Acta Med
{Volume}: 67
{Issue}: 2
{Year}: 2024 May
{Factor}: 1.371
{DOI}: 10.33160/yam.2024.05.010
{Abstract}: Alström syndrome is a form of inherited obesity caused by a single gene abnormality and is inherited as an autosomal recessive trait. It is characterised by a variety of clinical manifestations, including progressive visual and hearing impairment, type 2 diabetes mellitus, dilated cardiomyopathy, and hepatic and renal dysfunction, in addition to obesity. Recent insights underline the pivotal involvement of the disease-associated gene (ALMS1) in cilia formation and function, leading to the classification of its clinical manifestations as a ciliopathy. This review delineates the diverse clinical indicators defining the syndrome and elucidates its pathological underpinnings.