Sudden Infant Death with Dysgenesis of the Testes Syndrome, or SIDS with DT syndrome, is a rare genetic condition that affects the development of the testes in infants. This scientific article aims to provide information about this unusual and potentially…
GABA-transaminase deficiency is a rare genetic condition that causes accelerated growth in affected individuals. This condition is also known as GABA-transaminase deficiency, a disorder caused by mutations in the GABA-transaminase gene. GABA-transaminase is an enzyme that helps break down the…
The SLCO1B3 gene is involved in the transport of organic solutes including bilirubin, making it an important gene in various conditions and diseases related to bilirubin metabolism. This gene is also known as solute carrier organic anion transporter family member…
The CYP2C19 gene is a genetic variant that is related to the metabolism of certain drugs and is also classified as an enzyme. This gene codes for the production of the cytochrome P450 2C19 enzyme, which plays a crucial role…
Leukoencephalopathy with thalamus and brainstem involvement and high lactate, also known as LTBL, is a rare genetic condition that affects the brain and nerve cells. It is caused by mutations in the gene called EARS2, which is involved in the…
The CUL3 gene, also known as Cullin 3, is a protein-coding gene. It is a member of the Cullin family of genes, which are involved in the ubiquitin-proteasome type of protein degradation. Genetic changes in the CUL3 gene have been…
The MASP1 gene, also known as the MBL-associated serine protease 1 gene, is listed in the Genetic Testing Registry as one of the genes associated with the 3MC syndrome. This syndrome is characterized by various facial and organ abnormalities, and…
The FXN gene is related to the health and is not fully understood. It is also referred to as the Friedreich Ataxia (FRDA) gene. The FXN gene is listed in the OMIM database, which contains information on genetic diseases. It…
The KCNJ1 gene, also known as the inward rectifier potassium channel 1 gene, is responsible for the production of a protein that plays a crucial role in the function of the kidneys. Mutations in this gene can lead to various…
Meier-Gorlin syndrome is a rare genetic condition characterized by microcephalic primordial dwarfism, small ears, and absent or small patellae. It was first described by Meier in 1959 and Gorlin in 1975. The syndrome has a narrow inheritance and causes severe…