Klippel-Feil syndrome, a rare congenital condition, is caused by abnormal formation and fusion of the bones in the neck and spine. This leads to a range of problems, including a short, webbed neck and limited range of motion in the…
The PGK1 gene is responsible for encoding the phosphoglycerate kinase enzyme, which plays a crucial role in the glycolysis pathway. This pathway is responsible for converting glucose into energy in the form of ATP. Phosphoglycerate kinase is an important kinase…
The TSC2 gene is a gene that is associated with a condition called tuberous sclerosis complex (TSC). TSC is a genetic disorder that affects various organs in the body and can cause a wide range of symptoms. There are a…
The ABCC6 gene is a gene responsible for a condition known as pseudoxanthoma elasticum, which is a rare genetic disorder that affects the elastic tissues in the body. It is typically characterized by abnormal calcification of the skin, eyes, and…
The HNF1A gene, also known as the HNF1 homeobox A gene, is responsible for coding a transcription factor that plays a crucial role in the regulation of gene expression. This gene has been linked to several diseases and conditions, including…
CASK-related intellectual disability CASK-related intellectual disability is a rare form of intellectual disability that is caused by mutations in the CASK gene. The CASK gene provides instructions for making a protein that is essential for normal brain development and function.…
Adiposis dolorosa, also known as Dercum’s disease, is a rare and painful condition characterized by the excessive growth of fatty tissue. It is often accompanied by depression and is more common in women. This condition, which is sometimes referred to…
The PSAP gene, also known as the PSAP variant, is a gene that plays a crucial role in the health and function of myelin, a substance that protects nerve fibers. Mutations in the PSAP gene can lead to a variety…
North American Indian Childhood Cirrhosis is a rare genetic condition that affects children of Native American descent. It was first described by Mercier and Tuchweber in 1988. The condition is characterized by severe liver disease, which leads to liver failure…
The ARMS2 gene, also known as the age-related macular degeneration susceptibility 2 gene, is a gene that is associated with age-related macular degeneration (AMD). AMD is a common disease that affects the macula, the central part of the retina, and…