The CYB5R3 gene is a crucial component of the human body’s ability to maintain health and functionality. Methemoglobinemia, a group of disorders related to the decrease in oxygen-carrying capacity of hemoglobin, is directly linked to errors or changes in this…
The RBPJ gene, also known as recombining binding protein suppressor of hairless, is a key player in the Notch signaling pathway. This gene is listed on the OMIM database for its association with various genetic diseases, including Adams-Oliver syndrome and…
Gaucher disease, also known as Gaucher’s disease, is a rare genetic disorder that affects the tissues and organs of the body. It is caused by the deficiency of an enzyme called glucocerebrosidase, which is responsible for breaking down a fatty…
Lesch-Nyhan syndrome is a rare genetic condition that is associated with altered levels of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene. This genetic alteration causes a variety of symptoms and clinical manifestations. The syndrome occurs almost exclusively in males, and it is…
The PKHD1 gene, also known as polycystic kidney and hepatic disease 1 gene, is associated with autosomal recessive polycystic kidney disease (ARPKD). This gene provides instructions for making a protein called fibrocystin Mutations in the PKHD1 gene can cause changes…
Mandibulofacial dysostosis with microcephaly (MFDIM) is a rare genetic condition that affects the development of the face, head, and brain. It is also known as zechi-ceide syndrome, baujat syndrome, or Wieczorek syndrome. Individuals with MFDIM have abnormally small heads (microcephaly),…
The SPG11 gene, also known as spatacsin, is responsible for a type of hereditary spastic paraplegia called SPG11. This gene is found in the GTP-binding family and is located on chromosome 15q21.3. SPG11 is an autosomal recessive disorder characterized by…
The GNAS gene, also known as GNAS1 or Gs alpha, is a complex gene that plays a crucial role in regulating various functions within the body. It is involved in several genetic disorders and diseases, including McCune-Albright syndrome, pituitary dependent…
Non-alcoholic fatty liver disease (NAFLD) is a condition characterized by the accumulation of fat in the liver, not due to alcohol consumption. It is one of the most common liver diseases worldwide, with a prevalence of up to 30 percent…
The BCR gene, also known as the breakpoint cluster region gene, is a genetic component often associated with various types of cancers. It is particularly linked to chronic myeloid leukemia, a type of cancer that affects the blood and bone…