Mitochondrial complex I deficiency is a rare genetic condition characterized by the malfunction of complex I within the mitochondria. Complex I is responsible for generating energy in the form of adenosine triphosphate (ATP) in cells. When complex I is deficient,…
The PMM2 gene is associated with a genetic disorder called PMM2-congenital disorder of glycosylation (PMM2-CDG). This condition affects the production of a protein called phosphomannomutase 2, which is responsible for an essential step in the glycosylation process. Changes in the…
Chronic atrial and intestinal dysrhythmia is a rare genetic condition that affects the normal rhythm of the heart and intestines. It is also called sick sinus syndrome and intestinal pseudo-obstruction syndrome. The condition is associated with chronic pain and can…
Glycogen storage disease type V is a rare genetic condition characterized by the inability to break down glycogen, resulting in the accumulation of glycogen in various tissues. This condition is also known as McArdle disease or Glycogenosis type V. The…
Direct-to-consumer genetic tests have become increasingly popular in recent years, allowing individuals to learn more about their ancestry, health predispositions, and potential genetic traits. These tests provide raw data that can be a valuable resource in understanding one’s genetic makeup.…
Ring chromosome 20 syndrome is a rare genetic condition caused by a ring-shaped chromosome 20. This condition is associated with frequent seizures, especially a type of seizure called non-convulsive status epilepticus. Individuals with this syndrome may experience seizures that last…
The SPART gene, also known as SPG20, encodes the spartin protein. Mutations in the SPART gene are associated with Troyer syndrome, an autosomal recessive, neurodegenerative disorder characterized by spastic paraplegia and other symptoms. This gene is listed in various genetic…
The GARS1 gene, also known as glycyl-tRNA synthetase 1, is a gene that plays a crucial role in motor neuron function. Mutations in this gene have been associated with various genetic diseases, including Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.…
The POMC gene, also known as the proopiomelanocortin gene, is responsible for producing a protein called proopiomelanocortin (POMC). This protein is a precursor that is cleaved into various smaller peptides, including adrenocorticotropic hormone (ACTH) and beta-endorphin. These peptides play crucial…
Allan-Herndon-Dudley syndrome, also known as AHDS, is a rare genetic disorder that affects the metabolism of the triiodothyronine hormone. It is an X-linked condition caused by mutations in the SLC16A2 gene. This syndrome is characterized by severe intellectual disability, muscle…