Blau Syndrome is a rare genetic inflammatory condition that affects various organs in the body. This syndrome is characterized by synovitis, which is the inflammation of the synovial membrane in joints, and dermatitis, which is inflammation of the skin. Blau…
The SOX10 gene, also known as the SRY-Box Transcription Factor 10, is a gene that plays a central role in the development and function of certain cells in the body. It is located on chromosome 22q13.1 and is involved in…
The BSCL2 gene is associated with a disorder called Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2). Lipodystrophies are a group of disorders characterized by abnormalities in the distribution of fats in the body. BSCL2 gene mutations have been identified as the…
The SELENON gene is a crucial component of muscular health and is responsible for the proper functioning of muscle fiber types. Mutations in this gene can cause a variety of muscular conditions, including congenital myopathy and multiminicore disease. These conditions…
The ADAMTSL4 gene is one of the genes that codes for proteins involved in the development and maintenance of connective tissues, including fibrillin-1, which is found in the filaments of elastic fibers. Mutations in this gene have been associated with…
Congenital myasthenic syndrome (CMS) is a rare genetic condition that affects the function of muscles. It is a group of syndromes caused by mutations in genes that impair nerve-muscle communication. This leads to weakness and fatigue in the affected muscles.…
The TNFRSF1A gene, also known as Tumor Necrosis Factor Receptor Superfamily Member 1A, is a gene that is associated with multiple conditions and diseases. It plays a role in various health conditions and its mutations or changes can lead to…
Alagille Syndrome is a rare genetic disorder that affects various organs and systems within the body. It was first described by Dr. Daniel Alagille in 1969, hence the name. This condition is also known by other names such as Alagille-Warthen…
The DRD5 gene, also known as the dopamine receptor D5, is one of the many genes involved in brain function and essential for maintaining overall health. This gene is part of a family of genes called dopamine receptors, which play…
JAK3-deficient Severe Combined Immunodeficiency (SCID) is a rare genetic condition that affects the immune system. SCID is a group of genetic disorders that cause severe deficiencies in the immune system, making individuals extremely susceptible to infections. JAK3-deficient SCID is named…