Lujan syndrome is a rare genetic condition that is also referred to as Lujan-Fryns syndrome or X-linked intellectual disability type 30. It was named after the scientists who first described it, Argentinean geneticist Dr. Mario R. Lujan and Belgian psychiatrist…
The OPA1 gene, also called optic atrophy 1, is a genetic fusion linked to several mitochondrial disorders. It plays a crucial role in maintaining the health and function of the optic nerve and is responsible for vision. Mutations in the…
Retinitis pigmentosa (RP) is a group of genetic disorders that cause a gradual loss of vision. It is the most common inherited retinal disease, affecting approximately 1 in 4,000 people worldwide. RP is characterized by the degeneration of the rod…
The COL6A3 gene is responsible for producing the alpha-3 chain of the collagen VI molecule, which is a key component of connective tissues in the human body. Collagen VI is found in the extracellular matrix and plays a crucial role…
The OPN1LW gene, also known as the long-wave-sensitive opsin or opsin 1 (cone pigments), is a variant of the OPN1 gene family. The OPN1LW gene is listed as one of the three types of cone pigments that exist in humans,…
Colposcopy is a medical examination technique that allows a healthcare provider to closely examine the cervix, vagina, and vulva. It is typically performed when there are abnormal cervical changes detected during routine screenings, such as a Pap smear. The procedure…
Primary spontaneous pneumothorax (PSP) is a rare condition that occurs when there is a sudden formation of air in the space between the lungs and the chest wall, causing the lung to collapse. It is called primary because it occurs…
The MMAB gene, also known as methylmalonic aciduria and homocystinuria type CblB type gene, is responsible for encoding a protein called methylmalonic aciduria type B protein. This protein plays a crucial role in the breakdown of certain amino acids and…
3-hydroxyacyl-CoA dehydrogenase deficiency is a rare genetic disease associated with a deficiency of the enzyme 3-hydroxyacyl-coa dehydrogenase. This enzyme is involved in the breakdown of fatty acids in the body. Without sufficient levels of this enzyme, the body is unable…
Cone-rod dystrophy is a rare genetic condition that affects the cone and rod cells in the retina. This condition, also known as retinal cone-rod dystrophy, is characterized by progressive vision loss, particularly in the central field of vision. Cone-rod dystrophy…