Dandy-Walker malformation is a rare brain defect that has been associated with various genetic causes. It is characterized by the combination of fluid accumulation in the center of the brain (enlarged fourth ventricle), a partly or completely absent cerebellar vermis…
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare genetic condition that affects the functioning of the brain. It is also known by other names such as x-linked intellectual disability type 29 (XLID29) and wipi4-associated neurodegeneration. BPAN is caused by mutations in…
The XPC gene, also known as Xeroderma pigmentosum complementation group C, plays a crucial role in DNA repair. It is involved in the recognition and removal of DNA damage caused by ultraviolet (UV) rays, which can lead to the development…
Mucopolysaccharidosis type IV, also known as Morquio syndrome, is a rare genetic disorder that is characterized by the inability to break down certain mucopolysaccharides, causing an accumulation of these substances in the body. This condition affects multiple systems in the…
The UNC80 gene is a genet coding for a protein known as UNC80. This protein is a subunit of the NALCN-UNC80-TMEM16 channelosome, which plays a critical role in neuronal excitability. Mutations in the UNC80 gene have been found to cause…
Inclusion Body Myopathy 2 (IBM2) is a rare genetic muscle disorder characterized by distal weakness. It is caused by mutations in the GNE gene, also known as UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase. IBM2 belongs to a group of diseases called hereditary inclusion body…
Hereditary hemochromatosis is a rare genetic disorder that causes the body to absorb and store too much iron from food. Iron is essential for various bodily functions, such as making red blood cells and carrying oxygen throughout the body. However,…
The PAX8 gene is a scientific term related to the field of genetics. It is a significant gene that plays an important role in the formation and growth of various conditions and diseases. This gene, along with other paired genes,…
The MAT1A gene is a gene that is responsible for encoding the methionine adenosyltransferase 1A enzyme. This enzyme is involved in the synthesis of S-adenosylmethionine (AdoMet), which is a critical molecule involved in various metabolic processes in the body. Changes…
Carnitine-acylcarnitine translocase deficiency, also known as carnitine-acylcarnitine translocase deficiency, is a rare genetic condition. It is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for a child to be affected. This…