Genes V is the fifth installment in the highly acclaimed and influential Genes series. Released in 2018, it continues the tradition of pushing the boundaries of scientific research and exploration in the field of genetics. With its groundbreaking discoveries and…
Brain-lung-thyroid syndrome is a rare congenital genetic condition that is associated with difficulty in the normal functioning of the brain, lungs, and thyroid gland. It is also known as hereditary choreoathetosis, brain-lung-thyroid syndrome or Szinnai syndrome. This condition affects only…
Hypermethioninemia is a metabolic disease associated with elevated levels of methionine in the blood. It is usually caused by a genetic defect in the enzymes involved in the breakdown or processing of methionine. One form of hypermethioninemia is known as…
Chromosome 21 is a vital part of our genetic makeup, playing a crucial role in our health and well-being. It is one of the 23 pairs of chromosomes present in each cell of our body, carrying genetic information that determines…
Hemophilia is a rare genetic disorder that affects the body’s ability to produce clotting factors. It is characterized by a deficiency of either factor VIII (hemophilia A) or factor IX (hemophilia B). Hemophilia is inherited in an X-linked recessive manner,…
The ABCG5 gene is part of a genetic sub-family of transporters that are responsible for the transport of sterolin-1 and sterolin-2. These transporters play a crucial role in maintaining proper sterol levels in the body. The ABCG5 gene is related…
The MOCOS gene (also known as Molybdenum Cofactor Sulfurase) is responsible for the production of an enzyme called MOCOS which plays a crucial role in the breakdown of purines in the body. Purines are substances found in certain foods and…
Nager Syndrome, also known as Nager Acrofacial Dysostosis, is a rare genetic disorder with a frequency of about 1 in 50,000 to 100,000 births. It is characterized by craniofacial and limb anomalies, causing significant physical and developmental challenges for affected…
Hereditary angioedema (HAE) is a rare genetic condition that causes recurrent episodes of swelling in various parts of the body. It is also known as hereditary angioneurotic edema or hageman deficiency, among other names. HAE is caused by a deficiency…
The PGM3 gene, also known as phosphoglucomutase 3, is a gene that is involved in glycosylation. It has been extensively studied and researched, with numerous articles published in scientific journals. The gene is listed in several databases, including Pubmed, OMIM,…