GM3 synthase deficiency is a rare genetic condition that causes signs and symptoms typically within the first few months of life. It is caused by mutations in the GM3 synthase gene. This gene provides instructions for making an enzyme called…
Loeys-Dietz syndrome Loeys-Dietz Syndrome (LDS) is a rare genetic disorder that affects the connective tissues in the body and often leads to serious complications, particularly in the cardiovascular system. It was first described by Drs. Bart L. Loeys and Harry…
Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a rare genetic condition that affects the development of certain structures derived from the ectoderm, including the skin, hair, nails, teeth, and sweat glands. This scientific condition is also known as hypohidrotic…
The KRIT1 gene, also known as CCM1, is an important gene associated with cerebral cavernous malformation (CCM), a genetic disorder characterized by the formation of abnormal blood vessels in the brain. CCM is a rare condition that affects approximately 1…
Bietti crystalline dystrophy is a rare genetic condition that affects the eyes. It is named after the Italian ophthalmologist Dr. G. Bietti, who first described the condition in the 1930s. This condition is inherited in an autosomal recessive manner, meaning…
Peroxisomal acyl-CoA oxidase deficiency is a rare genetic condition associated with a deficiency in the enzyme acyl-CoA oxidase. This condition has been described in a small number of cases, with studies suggesting that it may be more common in individuals…
C3 glomerulopathy is a rare condition that affects the kidneys. It is a part of a group of rare diseases known as glomerulopathies, which are caused by deposits of a protein called C3 in the glomeruli, the tiny filters in…
Hereditary pancreatitis is a rare genetic condition that affects the pancreas. It is estimated to affect less than 1 percent of all cases of pancreatitis. This condition is caused by mutations in certain genes, such as trypsinogen and pancreatic secretory…
Gene therapy is a medical therapy that involves modifying and manipulating genes to treat or prevent diseases. It is an emerging field in medical care that holds great promise for the future. With the advances in technology and our understanding…
The TWNK gene, also known as the twinky gene, is a genetic condition that has been found to affect certain families. It is a recessive condition, meaning that both parents must carry the gene mutation in order for it to…