Lyme disease, also known as Lyme borreliosis, is a rare vector-borne infection caused by the bacterium Borrelia burgdorferi. It is transmitted to humans through the bite of infected black-legged ticks. Lyme disease is mainly prevalent in the United States and…
The WNT4 gene is a key regulator in the development of the reproductive system in females. Mutations in this gene can lead to various conditions and anomalies, affecting the function of the kidneys, urinary tract, and other related organs. Research…
Dystrophic epidermolysis bullosa (DEB) is a rare genetic condition that affects the skin and nails. It is characterized by the formation of blisters and erosions on the skin, especially on the hands and feet. The condition also affects the nails,…
Systemic lupus erythematosus (SLE), commonly referred to as lupus, is a rare and complex autoimmune disease that affects multiple organs and systems in the body. According to researchers, the exact cause of SLE is still unknown, but there are genetic…
The ALX4 gene is a gene that plays a crucial role in various biological processes and is associated with several genetic diseases. It is listed in various scientific databases and resources, such as OMIM and Genecards, providing important information about…
Action myoclonus-renal failure syndrome is a progressive genetic condition with rare frequency, characterized by myoclonic seizures and renal failure. It is also known as the myoclonus-renal failure syndrome or the Dibbens syndrome. This syndrome has been linked to mutations in…
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic condition that affects the development of various parts of the body. It is associated with mutations in the TP63 gene, which plays a crucial role in the formation of skin, hair,…
The MCM6 gene, also known as the minichromosome maintenance complex component 6, is a variant in the human genome that plays a crucial role in the regulation of lactose intolerance. In scientific articles and databases, it is often referred to…
X-linked spondyloepiphyseal dysplasia tarda, also known as X-linked late-onset spondyloepiphyseal dysplasia, is a rare genetic condition that primarily affects males. It is characterized by short stature and abnormalities in the growth of the spine and the ends of the long…
GRIN2B-related neurodevelopmental disorder is a rare genetic condition that affects the normal growth and development of the brain. It is caused by mutations in the GRIN2B gene, which is involved in the function of the NMDA receptor in the brain.…