Expert

The LTBP4 gene, also known as latent transforming growth factor beta binding protein 4, is a genetic factor that plays a crucial role in the health and development of various tissues and organs. Mutations in this gene have been found…

Maturity-onset diabetes of the young (MODY) is a rare form of genetic diabetes that affects children and young adults. It is caused by alterations in certain genes that play a central role in the regulation of blood sugar levels. Unlike…

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…