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…
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…
Lujan syndrome is a rare genetic condition that is also referred to as Lujan-Fryns syndrome or X-linked intellectual disability type 30. It was named after the scientists who first described it, Argentinean geneticist Dr. Mario R. Lujan and Belgian psychiatrist…
The OPA1 gene, also called optic atrophy 1, is a genetic fusion linked to several mitochondrial disorders. It plays a crucial role in maintaining the health and function of the optic nerve and is responsible for vision. Mutations in the…
Retinitis pigmentosa (RP) is a group of genetic disorders that cause a gradual loss of vision. It is the most common inherited retinal disease, affecting approximately 1 in 4,000 people worldwide. RP is characterized by the degeneration of the rod…
The COL6A3 gene is responsible for producing the alpha-3 chain of the collagen VI molecule, which is a key component of connective tissues in the human body. Collagen VI is found in the extracellular matrix and plays a crucial role…