Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytic disorder characterized by the accumulation of histiocytes in various tissues of the body. The disease was first described in 1930 by Jakob Erdheim and William Chester, and since then, only a few…
Genetic conditions are disorders that are caused by changes in an individual’s DNA. These changes can be inherited from one or both parents, or they can occur spontaneously. Genetic conditions can affect various parts of the body, including the skin,…
The HLA-DPB1 gene is one of the genes listed under the HLA-DP gene complex. It plays a crucial role in the immune system and is associated with various health conditions. This article provides scientific information, resources, and references related to…
Erythromelalgia is a rare and debilitating disease that affects the peripheral nervous system. More specifically, it is a genetic disorder that is caused by mutations in certain genes, such as NAV1.7. This gene is responsible for encoding a sodium channel…
Celiac disease, also known as gluten-sensitive enteropathy or celiac sprue, is a rare genetic condition that causes damage to the small intestine when gluten is consumed. Gluten is a protein found in wheat, barley, and rye. Celiac disease affects about…
FG syndrome is a rare genetic condition that affects mainly males. It was first described in 1964 by Opitz and Kaveggia as an X-linked inheritance pattern, meaning that the mutated gene responsible for the condition is located on the X…
The PITX2 gene is also known as “paired-like homeodomain transcription factor 2”. It is a gene that plays a crucial role in the development of various organs and tissues in the body. The gene is located on chromosome 4, and…
The PGAM2 gene provides instructions for making an enzyme called phosphoglycerate mutase 2. This enzyme is involved in the chemical reaction that converts a molecule called 3-phosphoglycerate to 2-phosphoglycerate. This reaction is an important step in the process of producing…
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…