Arginineglycine amidinotransferase deficiency, also known as AGAT deficiency, is a rare autosomal recessive genetic condition caused by a deficiency in the enzyme arginineglycine amidinotransferase. This deficiency leads to delayed synthesis of creatine, an important amino acid that plays a crucial…
The FZD2 gene, also known as Frizzled-2, is a scientific gene that is associated with various skeletal disorders. It is a dominant gene, meaning that a mutation in this gene can cause the syndrome to be inherited in an autosomal…
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) disease is a rare genetic disorder that affects the nervous and gastrointestinal systems. It is caused by mutations in the TYMP gene, which leads to a deficiency in the enzyme thymidine phosphorylase. This enzyme is responsible…
1p36 deletion syndrome is a rare genetic condition caused by the deletion of a small piece of chromosome 1. It is one of the most common subtelomeric microdeletion syndromes, affecting about 1 in 5,000 to 1 in 10,000 individuals worldwide.…
Mucolipidosis II alphabeta is a rare genetic condition that causes a variety of features, including hernia, central nervous system abnormalities, and progressive developmental delay. It is caused by mutations in the GNPTAB gene, which encodes enzymes involved in the posttranslational…
In the world of genetics, a new generation is emerging, and they are called Genes Z. These are the individuals who were born in the late 1990s and early 2000s, and they are set to revolutionize the field of genetics…
Chromosomal disorders happen due to changes in the structure or number of chromosomes. Chromosomes are the thread-like structures made of DNA that contain our genetic information. Inherited chromosomal disorders occur when these changes are passed from parent to child. This…
The CDAN1 gene is a genetic variant associated with several health conditions, including congenital dyserythropoietic anemia. Researchers have identified changes in this gene that are linked to the development of these diseases. CDAN1 is also referred to as codanin-1 and…
When a genetic condition is identified, it is important to learn about the prognosis and potential outcomes. Genetics plays a crucial role in the development and progression of many conditions, and understanding the prognosis can provide valuable insights. In this…
In the world of modern medicine, genetic testing has become an increasingly important tool for clinicians and researchers. With the advancements in genomics, we now have the ability to read and interpret the genome, which provides us with a wealth…