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…
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,…
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…
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.…
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…
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…
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,…
Cherubism is a rare genetic condition characterized by abnormal growths in the lower jaw and cheekbones. It primarily affects children, causing their facial features to appear cherubic, hence the name. Cherubism is a hereditary condition, with most cases caused by…
Liebenberg syndrome, also known as brachydactyly-LHS (LIEBENBERG TYPE), is a rare genetic condition that affects the bones and soft tissues of the limbs. It was first described by Liebenberg in 1973 and has since been associated with mutations in the…
McLeod neuroacanthocytosis syndrome is a rare neurogenic condition that affects the muscles and brain. It is named after the McLeod blood group antigen, which is lacking in patients with this condition. The syndrome is inherited in an X-linked manner, meaning…