Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that affects a patient’s behavior, communication, and social interaction. It is often diagnosed in early childhood, with symptoms varying in severity. ASD is characterized by impaired social interaction and communication skills,…
Molybdenum cofactor deficiency is a rare genetic condition that causes the dysfunction of the molybdenum cofactor, which is essential for the function of certain enzymes in the body. This deficiency can lead to a range of symptoms and diseases, such…
PNPLA2 gene The PNPLA2 gene is a scientific term used to describe the Patatin-like phospholipase domain-containing protein 2 gene. This gene is responsible for encoding an enzyme called adipose triglyceride lipase (ATGL) which plays a crucial role in lipid metabolism.…
The CASQ2 gene, also known as the calsequestrin-2 gene, is a scientific genetic name given to a gene that has been implicated in several cardiac diseases. It plays a crucial role in the storage and release of calcium ions within…
The UROD gene, also known as Uroporphyrinogen decarboxylase, is a scientific topic that has generated significant interest in the medical community. The UROD gene plays a crucial role in the production of heme, a vital component of hemoglobin and other…
The PABPN1 gene is involved in the development of oculopharyngeal muscular dystrophy (OPMD), a rare genetic disease. This gene provides instructions for making the polyadenylate-binding protein nuclear 1 (PABPN1) protein, which plays a crucial role in mRNA processing and stability.…
Fucosidosis is a rare genetic condition associated with a deficiency in the fucosidase enzyme. It is one of the types of lysosomal storage diseases, a group of disorders characterized by the accumulation of substances in the lysosomes. Fucosidosis is inherited…
The WFS1 gene, also called wolframin, is a gene that is responsible for causing the Wolfram syndrome, a rare genetic disorder that affects multiple systems in the body. Wolfram syndrome is characterized by the progressive loss of function in the…
Factor VII deficiency, also known as congenital factor VII deficiency or hemostasis Wulff syndrome, is a rare genetic disorder that affects the ability of blood to clot. This condition is caused by mutations in the F7 gene, which provides instructions…
Nemaline myopathy is a rare genetic condition that affects the muscles. It is caused by mutations in several genes, including ACTA1, NEB, TPM3, and others. These mutations disrupt the normal contraction of muscle fibers, leading to muscle weakness and other…