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…
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…
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…
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)…
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…
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…
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…
Persistent Müllerian duct syndrome (PMDS) is a rare genetic condition that affects males. It is characterized by the presence of Müllerian duct structures in males, which are typically found in females and play a role in the development of female…
Familial dysautonomia, also known as Riley-Day syndrome, is a rare autosomal recessive genetic condition that affects the autonomic nervous system. It is associated with a variety of symptoms and can cause significant challenges for affected individuals and their families. The…
The SGCD gene is a significant gene involved in several genetic disorders related to muscular and cardiac health. It is one of the many genes that play a role in the limb-girdle muscular dystrophy (LGMD) and dilated cardiomyopathy (DCM). Sarcoglycanopathies,…