X-linked chondrodysplasia punctata 1 is a rare genetic condition that affects the development of bone and cartilage. It is also known as chondrodysplasia punctata, brachytelephalangic, or X-linked chondrodysplasia punctata. This condition is caused by mutations in the gene called the…
The TGFBR2 gene, also known as the transforming growth factor beta receptor 2, is a gene that plays a critical role in various biological processes. Mutations in this gene have been linked to a number of conditions, including Loeys-Dietz syndrome,…
Campomelic dysplasia is a rare genetic condition that primarily affects the development of the skeleton. It is one of the diseases that can cause abnormalities in the spine and other parts of the body. The high frequency of this condition…
The GABRA1 gene is responsible for encoding the alpha-1 subunit of the GABA-A receptor. This receptor is a critical component of the central nervous system and plays a crucial role in inhibitory neurotransmission. GABA-A receptors are involved in various processes…
The HPSE2 gene, also known as heparanase 2, plays a crucial role in various biological processes related to health and diseases. This gene encodes an enzyme that cleaves heparan sulfate proteoglycans (HSPGs), which are essential components of the extracellular matrix…
Lacrimo-Auriculo-Dento-Digital syndrome, also known as Levy-Hollister syndrome, is a rare genetic condition that affects multiple systems in the body. It is characterized by features such as tear duct abnormalities, hearing loss, cleft lip and/or palate, dental defects, and digital abnormalities.…
The MSTN gene, also known as the myostatin gene, is a key gene related to skeletal muscle growth and development. It plays a crucial role in regulating muscle mass and strength. Mutations or changes in this gene can lead to…
Lattice corneal dystrophy type II is a rare genetic condition that affects the cornea, the clear front layer of the eye. It is typically caused by mutations in the TGFBI gene, which is responsible for producing a protein called beta-2…
Dubin-Johnson syndrome is a rare genetic condition that affects the liver. It is one of the rarest diseases, with only a few hundred cases reported worldwide. Dubin-Johnson syndrome is associated with the buildup of a pigment called bilirubin in the…
The ACAN gene, also known as aggrecan, is a gene that provides instructions for making a protein called aggrecan. This protein is one of the main components of cartilage, which is the tough, flexible tissue that lines the ends of…