Diseases starting with O. Find detailed information on symptoms, risk factors, and effective treatment plans for optimal health.
Proopiomelanocortin (POMC) deficiency is a rare form of monogenic obesity characterized by early-onset severe obesity, adrenal insufficiency, and red hair pigmentation in most cases. The disorder stems from biallelic mutations in the POMC gene, disrupting the hypothalamic melanocortin pathway that regulates appetite and energy expenditure. Recognizing and treating this condition early is crucial for improving
Leptin receptor (LEPR) deficiency is a rare genetic disorder leading to severe, early-onset obesity caused by disruptions in the body’s energy regulation system. As a form of monogenic obesity, LEPR deficiency is linked directly to mutations in a single gene—LEPR—which encodes the receptor for leptin, a hormone critical for regulating appetite and body weight. Individuals
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by multisystemic manifestations, among which obesity is a hallmark. Unlike primary obesity, obesity associated with BBS results from genetic and cellular dysfunctions affecting satiety regulation and energy metabolism. Early diagnosis and tailored intervention are critical for managing the metabolic complications linked to BBS-induced obesity. Understanding