Ghosal hematodiaphyseal dysplasia is a rare genetic condition associated with bone diseases. It was first described in 1980 by Ghosal et al., and hence the name “Ghosal”. It is also known as “hematodiaphyseal dysplasia” and “Cormier-Daire-Vernejoul syndrome”. The frequency of…
African iron overload, also known as Bantu siderosis or African siderosis, is a condition characterized by an abnormal accumulation of iron in the body. It is particularly prevalent in central and southern Africa, affecting up to 40 percent of the…
The CYP2C9 gene is related to the health and sensitivity of individuals to certain medications, particularly warfarin. It is a part of the cytochrome P450 superfamily of genes which encode enzymes responsible for metabolizing drugs and other substances in the…
Sandhoff disease, also known as Sandhoff disease, is a rare genetic condition that is associated with a deficiency of certain genes. It is a type of gangliosidosis, which is a group of rare inherited diseases. This disease is characterized by…
The CUL7 gene is a variant of the cullin-7 gene, which is a key component of the ubiquitin-proteasome system. It is involved in the regulation of protein degradation and plays a crucial role in various cellular processes, including cell cycle…
The CYP11B1 gene, also known as cytochrome P450 family 11 subfamily B member 1, is a gene that is responsible for the production of proteins involved in steroid hormone synthesis. This gene is located on chromosome 8 in humans and…
The SETBP1 gene encodes for a protein that is involved in the regulation of several cellular processes. It plays a crucial role in the development and maintenance of myeloid cells. Mutations in this gene have been associated with a rare…
The MAN2B1 gene is associated with alpha-mannosidosis, a rare genetic disorder that affects various organs and tissues throughout the body. Alpha-mannosidosis is caused by mutations in the MAN2B1 gene, which provides instructions for making the alpha-mannosidase enzyme. This enzyme is…
The MYH9 gene, also known as myosin-9, is associated with various genetic disorders and conditions. This gene plays a crucial role in the production of proteins that are essential for the normal functioning of cells in the body. Mutations and…
Hypohidrotic ectodermal dysplasia (HED) is a rare condition that affects the development of ectodermal tissues. Ectodermal tissues include the skin, hair, nails, teeth, and sweat glands. People with HED typically have reduced or absent sweat glands, which can lead to…