Category Genetics

FGA gene

The FGA gene is a variant of the alpha-chain of fibrinogen, a blood protein. Fibrinogen is essential for normal blood clotting. Changes in the FGA gene can cause various health conditions. Some people with changes in the FGA gene have…

ASH1L gene

The ASH1L gene is one of the many genes that play a role in regulating the methylation of genes. It is a variant of the ASH1L gene that is associated with various diseases and conditions. Additional research is needed to…

Von Hippel-Lindau syndrome

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…

Congenital diaphragmatic hernia

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.…

Craniofrontonasal syndrome

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…

Supravalvular aortic stenosis

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…

Mainzer-Saldino syndrome

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…

Hereditary multiple osteochondromas

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…

Ankylosing spondylitis

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…

PDHB gene

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…