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…
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…
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…
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…
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…
Acral peeling skin syndrome (APSS) is a rare genetic condition characterized by peeling of the skin on the palms and soles of the feet. This article provides information on the symptoms, frequency, and genetic resources for APSS. APSS is a…
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…
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…
Spinocerebellar ataxia type 6 (SCA6) is a rare genetic condition that affects coordination and movement. It falls within a group of inherited disorders known as spinocerebellar ataxias, which are characterized by progressive degeneration of the cerebellum and spinal cord. SCA6…
The PRODH gene, also known as “pulver-one deletion-on-chromosome” (PDOC) gene, is a scientific name for a gene associated with various changes in the proline dehydrogenase (PRODH) protein. This gene is listed in the Pubmed database and provides information on genetic…