Chronic myeloid leukemia (CML) is a rare form of leukemia that affects the bone marrow and blood. It is characterized by the abnormal growth and function of certain cells in the bone marrow, known as myeloid cells. These cells form…
The QDPR gene, also known as Quinoid Dihydropteridine Reductase gene, is a gene that is related to disorders in the production of the enzyme QDPR. This enzyme is involved in the production of tetrahydrobiopterin (BH4), a cofactor necessary for the…
The PIK3CD gene, also known as the PI3K delta syndrome, is associated with a variant in the phosphatidylinositol 3-kinase (PI3K) gene family. This gene is central to the activation of the PI3K signaling pathway, which plays a crucial role in…
The COL6A2 gene is responsible for producing the α2 chain of collagen, which is found in various connective tissues throughout the body. Collagen is an essential extracellular matrix molecule that provides structural support and strength to tissues such as skin,…
Direct-to-consumer genetic testing has gained popularity in recent years as a way for individuals to gain insight into their own genetic makeup and potential health risks. However, when it comes to the question of whether a direct-to-consumer genetic test can…
Ethylmalonic encephalopathy is a rare genetic condition caused by excess ethylmalonic acid in the body. It is associated with mutations in the ETHE1 gene and typically presents with neurological symptoms. The condition was first described in 1991 by Zeviani et…
Hartnup disease is a rare genetic condition that affects the transport of certain amino acids. Amino acids are the building blocks of proteins, and they play a vital role in many cellular processes. In Hartnup disease, there is a defect…
Understanding your family’s health history can provide valuable information about your own health and help you make informed decisions about your healthcare. Additionally, knowing your family health history can help healthcare providers identify and manage any potential risks or conditions…
The BIN1 gene, also known as the Bridging Integrator 1 gene, is a gene that plays a crucial role in the health and functioning of muscles. Mutations in this gene have been found to be linked to various genetic conditions,…
Kabuki syndrome, also known as Kabuki makeup syndrome, is a rare genetic condition that is caused by variants in genes associated with histone methylation. It has been identified as one of the causes of intellectual disability and developmental delay in…