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…
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…
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 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…
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…
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 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…
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…
The Precision Medicine Initiative is a large research program, which aims to revolutionize medicine and improve health by providing more precise information about individual patients and their specific health conditions. This initiative was launched by the National Institutes of Health…
The CYLD gene is a central gene for the growths related to tumors. It is responsible for a condition called cutaneous cylindromas, which is a rare genetic syndrome. In addition to cutaneous cylindromas, people with mutations in the CYLD gene…