Expert

The KLOTHO gene, also known as KL gene, plays a vital role in the growth and development of our bodies. It has been associated with various conditions and health changes, especially those related to kidney health. The gene is particularly…

Familial erythrocytosis is a rare genetic condition characterized by an excess of red blood cells in the body. It is caused by mutations in certain genes that regulate the production and function of these cells. Clinically, patients with familial erythrocytosis…

LAMA2-related muscular dystrophy is a rare genetic condition caused by mutations in the LAMA2 gene. The LAMA2 gene provides instructions for making a protein called laminin alpha-2, which is important for the function of muscles and nerves. When the LAMA2…

CLN3 disease, also known as ceroid-lipofuscinosis, is a rare genetic condition caused by mutations in the CLN3 gene. The condition is part of a group of diseases collectively referred to as neuronal ceroid-lipofuscinoses (NCLs). CLN3 disease primarily affects children and…

The AGA gene is a gene that plays a crucial role in the development and maintenance of overall health. It is involved in various conditions and diseases, making it an important gene to study and understand. Testing for AGA gene…

Carpal tunnel syndrome (CTS) is a condition that affects the hands and is caused by pressure on the median nerve as it passes through the carpal tunnel in the wrist. It is one of the most common types of nerve…

Primary macronodular adrenal hyperplasia (PMAH) is a rare genetic condition characterized by the production of endogenous cortisol in the adrenal glands. This article provides an overview of PMAH, including its causes, clinical presentation, and available resources for patients and clinicians.…

A Gastrointestinal Stromal Tumor (GIST) is a rare cellular tumor that can develop in the gastrointestinal tract. These tumors are usually found in the stomach or small intestine, but they can occur anywhere along the digestive tract. GISTs are caused…

Bohring-Opitz syndrome is a rare genetic condition that affects the development of various tissues and nerves in the body. It is associated with facial abnormalities, developmental delays, and intellectual disability. The syndrome is caused by alterations in a gene called…

Noonan syndrome with multiple lentigines (NSML), also known as LEOPARD syndrome, is a rare genetic disorder that affects multiple systems in the body. NSML was first described by three physicians in 1963, and it was given the name LEOPARD as…