Sjögren-Larsson Syndrome (SLS) is a rare genetic condition characterized by a triad of symptoms: ichthyosis, spasticity, and intellectual disability. It is named after the Swedish dermatologist Torsten Sjögren and the Swedish physician Tage Larsson, who first described the syndrome in…
The ZFYVE26 gene, also known as SPG15, is one of the many genes listed in the OMIM database. This gene is responsible for coding a protein called spastizin, which plays a crucial role in the recycling of cellular elements. Mutations…
Rapid Diagnostic Tests (RDTs) are a valuable tool in diagnosing various diseases quickly and efficiently. These tests are designed to help healthcare professionals assess whether a patient has a particular condition or infection, based on a sample taken from the…
Adenosine deaminase deficiency is a rare genetic condition that affects the immune system. It leads to severe combined immunodeficiency, a condition where the immune system is unable to function properly. This deficiency is caused by mutations in the ADA gene,…
Platyspondylic lethal skeletal dysplasia Torrance type is a rare genetic condition that affects skeletal development. It is characterized by abnormal bone growth and underdevelopment of the spine, leading to a flattened appearance of the vertebrae. This condition is lethal, meaning…
Hyperphosphatemic familial tumoral calcinosis, a rare condition associated with the abnormal deposition of calcium phosphate in soft tissues, is a genetic disorder with a variable inheritance pattern. This condition is characterized by the development of tumoral calcinosis, which are large,…
The BTK gene, also known as Bruton’s tyrosine kinase gene, is a gene that is listed in various databases, including PubMed and the Registry of Research and Development for Health and Welfare. It plays a crucial role in hormone signaling…
The MED13L gene is responsible for encoding proteins that are crucial for the proper functioning of the mediator complex. This complex regulates the activity of genes by facilitating communication between regulatory factors and the transcription machinery. Mutations in the MED13L…
After giving birth, taking care of yourself is just as important as taking care of your baby. Postpartum depression is a serious condition that can develop after pregnancy and can cause much emotional pain. It is not the same as…
The EGFR gene, or epidermal growth factor receptor gene, is a key gene involved in regulating cell growth. It provides instructions for making a protein called the epidermal growth factor receptor (EGFR). This receptor plays a critical role in cell…