Atypical hemolytic-uremic syndrome (aHUS) is a rare genetic disorder that affects the body’s ability to regulate clotting in the blood vessels. It is associated with a certain gene mutation that causes the formation of clots in the small blood vessels,…
The SFRP4 gene, also known as the Secreted Frizzled Related Protein 4 gene, is a scientific term used to describe a gene that is involved in the signaling and remodeling of tissues and bones. It is listed in various scientific…
TGFB2 gene, also known as Transforming Growth Factor Beta 2 gene, is a protein-coding gene that provides the information for producing the TGFB2 protein. This gene is one of the members of the TGFB superfamily which plays crucial roles in…
Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay, also known as Johansson-Blizzard syndrome, is a rare genetic condition that affects multiple body systems. It is characterized by abnormalities of the skin, teeth, and eyes, as well as…
The C3 gene is a variant gene that plays a crucial role in the development of several age-related macular degeneration and other related diseases. C3 is one of the proteins in the complement system, a part of the immune system…
The LAMA2 gene is one of the genes related to the laminins, which are a family of proteins that play a crucial role in the structure and function of tissues. This gene is specifically related to lama2-related muscular dystrophy and…
The CLCF1 gene is a genetic resource that plays a role in the development of cold-induced sweating syndrome (CISS). This gene is also known by other names, including cytokine-like factor 1 (CLF1), BSF-3, and cardiotrophin-like cytokine factor 1 (CTF1). It…
In this article, we will explore several genetic conditions that are associated with the vitelliform macular dystrophy. These conditions include: seevexas dysplasia, leukoencephalopathy, and white long-chain dehydrogenase storage disease. Seevexas dysplasia is a rare genetic disorder that affects the development…
The PRPS1 gene is a variant of the pyrimidine- and purine-related conditions. It is associated with several diseases, including Charcot-Marie-Tooth syndrome, pyrimidine- and purine-related conditions, and others. This gene is responsible for the synthesis of phosphoribosylpyrophosphate (PRPP) synthetase 1, which…
The DARS1 gene is related to the synthesis of aspartyl-tRNA in the brainstem. This gene is listed as a cause for spasticity in the genetic registry. Reduced involvement of DARS1 has been associated with changes in fiber testing and other…