Congenital diaphragmatic hernia (CDH) is a rare genetic condition that affects the development of the diaphragm, the muscle that separates the chest from the abdomen. It is a complex condition with multiple genetic and environmental factors contributing to its development.…
Von Hippel-Lindau syndrome is a rare genetic disorder characterized by the development of tumors and cysts in various parts of the body. This condition is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene…
Supravalvular aortic stenosis (SVAS) is a rare genetic condition associated with the narrowing of the aorta, the main artery that carries blood from the heart to the rest of the body. It is caused by a mutation in the elastin…
Craniofrontonasal syndrome is a rare genetic disorder that affects the development of the head and face. It is named after the craniofrontonasal region, which includes the skull, forehead, and nasal area. The condition is characterized by a wide range of…
Hereditary multiple osteochondromas, also known as hereditary multiple exostoses, is a rare genetic condition characterized by the development of multiple benign bone tumors called osteochondromas. This condition is typically inherited in an autosomal dominant manner, which means that a person…
Mainzer-Saldino syndrome is a rare genetic disorder that affects multiple systems of the body. It is characterized by cone-shaped dystrophy of the retina, causing visual impairments, and nephronophthisis, a condition that affects the kidneys. This syndrome belongs to a group…
The PDHB gene is a gene that codes for the E1beta subunit of the pyruvate dehydrogenase complex. This complex is responsible for the conversion of pyruvate into acetyl-CoA, which is used in the citric acid cycle to produce energy. Mutations…
Ankylosing spondylitis (AS) is a rare genetic inflammatory disease that primarily affects the spine and can lead to chronic back pain and stiffness. It falls under the broader classification of spondyloarthritis, a group of inflammatory disorders that also includes psoriatic…
The RYR1 gene, also known as the centronuclear gene, plays a crucial role in the development and function of muscle cells. It is associated with various rare conditions related to muscle disorders, such as centronuclear myopathy and multiminicore disease. These…
DES gene, also known as desmin gene, is responsible for the production of a protein called desmin. Desmin is primarily found in the myofibrils, which are the contractile units of muscle cells. It provides structural support and helps to maintain…