The GNAQ gene is a certain gene that has been extensively studied and researched due to its association with a condition called Sturge-Weber syndrome. Numerous articles and databases have been dedicated to collecting information about the gene, its functions, and…
Essential Tremor is a specific condition characterized by involuntary rhythmic shaking of parts of the body, most commonly the hands and head. It is one of the most common movement disorders, affecting millions of people worldwide. Research on Essential Tremor…
The MAP2K2 gene is a member of the rasmapk signaling pathway, which plays a crucial role in cell growth, differentiation, and survival. Also known as MEK2 (mitogen-activated protein kinase kinase 2), MAP2K2 is responsible for activating the MAPK signaling cascade.…
Pilomatricoma is a rare, benign tumor of the hair follicle matrix. It is also known as calcifying epithelioma of Malherbe. Although the exact causes of pilomatricoma are still unknown, genetic studies have identified beta-catenin gene mutations in a majority of…
The PTEN gene, also known as phosphatase and tensin homolog, plays a significant role in the development of various cancers and genetic disorders. This gene is associated with a wide spectrum of conditions, with some individuals developing cancers such as…
Deafness and myopia syndrome, also known as myopia-sensorineural deafness syndrome, is a rare genetic condition that affects a patient’s vision and hearing. It is described in the scientific literature and is cataloged in the Online Mendelian Inheritance in Man (OMIM)…
Familial hypobetalipoproteinemia (FHBL) is a rare genetic disorder that affects the body’s ability to transport fats, specifically low-density lipoprotein (LDL) cholesterol. This condition is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of…
The TARDBP gene is a genetic coding sequence that is responsible for producing proteins involved in the regulation of gene expression. This gene is listed on various scientific databases, including OMIM and PubMed, where it is associated with several health…
Norrie disease is a rare genetic disorder that primarily affects the eyes, but can also cause hearing loss and developmental delays. It was first described by Dr. Gordon Norrie in 1961, and is also known by other names such as…
Genetic conditions are disorders that are caused by changes in a person’s DNA sequence. One such condition is neurogenic disorder, which affects the nervous system and can lead to various symptoms such as loss of muscle control and weakness. Another…