Tyrosine hydroxylase deficiency is a rare genetic condition associated with the impairment of the enzyme tyrosine hydroxylase. This enzyme is responsible for the conversion of the amino acid L-tyrosine to L-DOPA, an important step in the production of the neurotransmitters…
The CDH23 gene is a nonsyndromic gene that is associated with hearing loss. It plays an important role in the development and maintenance of the sensory hair cells in the inner ear. Mutations in this gene can lead to both…
Lafora progressive myoclonus epilepsy, also known as Lafora disease, is a rare genetic condition that affects the nervous system. It is named after the Spanish neurologist Gonzalo Rodríguez-Lafora, who first described the disease in 1911. This condition is characterized by…
The LEP gene, also known as the leptin gene, is a gene that encodes for the hormone leptin. Leptin plays a crucial role in regulating body weight and metabolism. Research on the LEP gene has revealed a variety of interesting…
Ménière’s disease, also known as endolymphatic hydrops, is a rare condition that affects the inner ear and can lead to progressive hearing loss, recurrent vertigo, and tinnitus. It was first described by the French physician Prosper Ménière in 1861 and…
Sickle cell disease is a genetic condition that affects the shape of red blood cells. It is named after the sickle-shaped cells that are characteristic of the disease. People with sickle cell disease typically have episodes of pain called crises,…
The EVC gene is one of the genes related to Ellis-Van Creveld syndrome, also known as chondroectodermal dysplasia. This condition is characterized by various signs and defects, including dwarfism, abnormal teeth, and polydactyly. The EVC gene is responsible for encoding…
Monoamine oxidase A (MAOA) deficiency is a rare genetic condition that affects the activity of an enzyme called monoamine oxidase A. This enzyme plays a crucial role in breaking down certain chemicals in the brain, such as neurotransmitters like serotonin,…
White sponge nevus is a rare genetic condition that affects the oral mucosal tissues, causing them to appear white and thickened. It is also known as familial white folded mucosae or nevus leukoplakia. This condition is usually inherited in an…
The TSEN54 gene is responsible for encoding a subunit of the tRNA splicing endonuclease, which is involved in the process of removing introns from transfer RNA (tRNA) precursors. This gene has been found to be associated with various diseases, including…