Progressive familial heart block is a rare condition that affects the heart’s electrical system. It is characterized by a progressive disruption in the electrical signals that regulate the heartbeat. The condition can lead to a slow, irregular heartbeat, and in…
Genes play a crucial role in determining various aspects of our health. They are responsible for providing the information that will ultimately dictate how our bodies function and develop. Some genes can affect our susceptibility to certain diseases, which means…
Chronic granulomatous disease (CGD) is a rare genetic condition caused by mutations in genes that code for proteins involved in the function of phagocytes, a type of immune cell. This condition affects the immune system’s ability to fight off certain…
DNMT1 (DNA methyltransferase 1) is a gene that encodes an enzyme called DNA methyltransferase 1. This enzyme plays a crucial role in DNA methylation, which is a process that regulates gene expression by adding a methyl group to the DNA…
Tyrosinemia is a rare genetic condition that affects the body’s ability to break down an amino acid called tyrosine. It is caused by mutations in one of three genes associated with tyrosine metabolism. Individuals affected by tyrosinemia may experience a…
PPM-X syndrome is a rare genetic condition that affects the production of proteins in the body. It is also known as mecp2 duplication syndrome, as it is caused by extra copies of the mecp2 gene on the X chromosome. This…
The albumin blood test is a common diagnostic test that measures the levels of albumin, a protein found in the blood. Albumin is produced in the liver and plays a vital role in maintaining the balance of fluids in the…
Nephronophthisis (NPHP) is a rare genetic condition that affects the kidneys. It is one of the most common genetic causes of end-stage renal disease in children and young adults. NPHP is characterized by the gradual loss of kidney function, leading…
The POLG gene, also known as polymerase (DNA-directed), gamma, located on chromosome 15q25, encodes a subunit of DNA polymerase gamma, the enzyme responsible for replication and repair of mitochondrial DNA. Mutations in this gene can lead to a spectrum of…
47XYY syndrome, also known as an extra Y syndrome, is a rare genetic condition that affects males. It is caused by the presence of an extra Y chromosome, resulting in a total of 47 chromosomes instead of the usual 46.…