N-acetylglutamate synthase deficiency, also known as NAGS deficiency, is a rare genetic condition that affects the urea cycle, a process that helps the body get rid of ammonia. This condition is caused by mutations in the N-acetylglutamate synthase gene, which…
Multiple sulfatase deficiency (MSD) is a rare genetic disorder that affects the normal function of sulfatase enzymes. The disease is caused by mutations in the genes that encode for these enzymes. When these mutations occur, the affected individual lacks functional…
Cole disease, also known as punctate palmoplantar keratoderma type III (PPKP3), is a rare genetic condition. It is characterized by punctate keratoderma, which presents as small, yellowish, and raised areas of thickened skin on the palms of the hands and…
Pyruvate dehydrogenase deficiency is a rare genetic condition that affects the body’s ability to convert pyruvate (a molecule derived from glucose) into energy. This deficiency is often inherited and can lead to developmental problems and neurological features. Pyruvate dehydrogenase deficiency…
Lyme disease, also known as Lyme borreliosis, is a rare vector-borne infection caused by the bacterium Borrelia burgdorferi. It is transmitted to humans through the bite of infected black-legged ticks. Lyme disease is mainly prevalent in the United States and…
The VHL gene, also known as the von Hippel-Lindau gene, is a target for clear cell renal cell carcinoma and is associated with other types of cancer. The VHL gene is located on chromosome 3 and changes in this gene…
Hypomagnesemia with secondary hypocalcemia, also known as combined hypomagnesemia and hypocalcemia, is a rare genetic condition that impairs the function of the kidneys’ convoluted tubules. This condition is associated with a variety of neurological and other diseases, including impaired renal…
Familial Cold Autoinflammatory Syndrome Type 2, also known as FCAS2, is a rare genetic condition characterized by inflammatory symptoms triggered by cold temperatures. It is one of several autoinflammatory diseases that affect the immune system’s regulation of inflammation and can…
Action myoclonus-renal failure syndrome is a progressive genetic condition with rare frequency, characterized by myoclonic seizures and renal failure. It is also known as the myoclonus-renal failure syndrome or the Dibbens syndrome. This syndrome has been linked to mutations in…
The ALX4 gene is a gene that plays a crucial role in various biological processes and is associated with several genetic diseases. It is listed in various scientific databases and resources, such as OMIM and Genecards, providing important information about…