Spondyloepiphyseal dysplasia congenita is a rare genetic condition that affects the growth of bones and connective tissues in the body. It is characterized by short stature, abnormal formation of the vertebrae, and skeletal abnormalities. This condition is congenital, meaning it…
The MYCN gene, also known as myelocytomatosis, is a gene that is associated with various genetic syndromes and diseases. It is listed in scientific articles, databases, and registries as one of the important oncogenes. Additional viral articles and research studies…
Townes-Brocks Syndrome is a rare genetic condition that affects multiple parts of the body. It is named after the two geneticists, Townes and Brocks, who first described the syndrome. This condition is characterized by the presence of thumb abnormalities, ear…
The STAMBP gene, also known as STAM-binding protein (STAMBP), is an important genetic component involved in various cellular processes and diseases. This gene plays a role in the recycling of proteins within cells and is associated with several conditions such…
Sézary syndrome is a rare cutaneous T-cell lymphoma that affects the skin and lymph nodes. It is characterized by the presence of abnormal T-cells in the blood and is considered to be a variant of mycosis fungoides, another type of…
Type 2 diabetes, also known as non-insulin dependent diabetes, is a chronic condition that affects the way the body metabolizes sugar (glucose). It is the most common form of diabetes, accounting for about 90-95 percent of all diabetes cases. This…
Freeman-Sheldon syndrome, also known as Whistling face syndrome, is a rare genetic disorder that affects various parts of the body. It is caused by mutations in the MYH3 gene, which encodes the myosin-3 protein. The syndrome is inherited in an…
GLUT1 Deficiency Syndrome (GLUT1DS) refers to a group of rare genetic disorders that affect the function of the GLUT1 gene. This gene is responsible for producing a protein called glucose transporter type 1 (GLUT1), which plays a crucial role in…
The microphthalmia-associated transcription factor (MITF) gene is involved in a variety of genetic conditions, including microphthalmia, Waardenburg syndrome, and Tietz syndrome. These conditions are characterized by various pigmentation and hearing abnormalities. MITF is a key regulator of melanocyte development and…
Sotos syndrome, also known as cerebral gigantism, is a rare genetic disorder associated with overgrowth and various other physical and developmental abnormalities. The condition gets its name from the Greek word “sotos,” meaning “space.” It was first described by Professor…