Winchester syndrome, also known as Winchester osteolysis, is a rare genetic disease that affects the bones. It is classified as an inherited osteolysis disorder, which means it leads to the progressive loss of bone tissue. The syndrome was first identified…
Genetic Conditions Q is a comprehensive guide that provides information on a wide range of genetic conditions. Genetic conditions are disorders caused by changes in an individual’s DNA sequence. These changes, called mutations, can result in a variety of health…
The STAT4 gene, also known as signal transducer and activator of transcription 4, is a gene that plays a crucial role in the immune system. It is involved in the regulation of various genes that stimulate immune responses, including the…
Familial isolated hyperparathyroidism is a genetic condition that causes overactive parathyroid glands, leading to high levels of calcium in the bloodstream. These parathyroid glands are responsible for regulating calcium levels in the body. When they become overactive, they produce too…
The MYBPC3 gene, also known as the myosin-binding protein C, is a gene that encodes proteins involved in the regulation of muscles, specifically the cardiac muscles. Variants in this gene have been found to be associated with various cardiac conditions,…
Critical congenital heart disease (CCHD) refers to a group of life-threatening heart conditions that affect newborns and infants. These conditions are present at birth and involve structural abnormalities in the heart or major blood vessels. CCHD can cause serious problems…
The PLA2G6 gene is a scientific term used to refer to the phospholipid enzyme PLA2G6. This enzyme plays a crucial role in various biological processes including lipid metabolism and cellular signaling. It is encoded by the PLA2G6 gene, which is…
An aldosterone-producing adenoma (APA) is a condition in which a tumor develops in the adrenal gland and causes excessive production of aldosterone hormone. Aldosterone is involved in regulating blood pressure and electrolyte balance in the body. This condition affects about…
Cerebral cavernous malformation (CCM) is a rare condition characterized by abnormal blood vessels within the brain. This vascular malformation, also known as cavernous angioma or cavernous hemangioma, can cause a range of neurological symptoms and complications. The genetic causes of…
The SHOX gene, also known as Short Stature Homeobox-containing gene, is a crucial gene that plays a significant role in human growth and development. It is located on the X and Y chromosomes and is responsible for regulating skeletal growth.…