Category Genetics

The F5 gene, also known as Factor V gene, is responsible for the production of coagulation factor V, a protein involved in the blood clotting system. Mutations in the F5 gene can lead to various forms of thrombophilia, a rare…

Nonsyndromic holoprosencephaly is a rare genetic condition affecting the development of the brain. It is characterized by a failure of the brain to divide into two separate hemispheres during early embryonic development, resulting in various structural abnormalities of the brain…

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…

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…

Attention-deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder that affects both children and adults. It is characterized by symptoms of inattention, hyperactivity, and impulsivity. ADHD is not a rare condition, as it affects approximately 5-12% of children worldwide. It…

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…

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…

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.…

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…

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…