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,…
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…
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…
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…
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 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.…
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 NPHS1 gene is responsible for encoding a protein called nephrin, which plays a crucial role in maintaining the health and function of various cells in the renal system. Mutations in the NPHS1 gene can result in a condition known…
The SMAD4 gene, also known as the MADH4 gene, is an important factor in various genetic disorders. It is listed in numerous genetic databases and registries, as it has been found to be associated with several conditions and diseases. The…
Nonsyndromic hearing loss, a genetic disorder associated with changes in the genes involved in hearing function, is a common cause of hearing impairment. It is estimated that about half of the cases of congenital hearing loss and more than half…