Juvenile polyposis syndrome is a rare condition characterized by the development of multiple polyps in the gastrointestinal tract. These polyps, which are most commonly found in the colon and rectum, typically begin to develop during childhood or adolescence. This condition…
Congenital fiber-type disproportion (CFTD) is a rare genetic condition characterized by an imbalance in the size of skeletal muscle fibers. This condition is typically inherited in an autosomal dominant or X-linked recessive manner. CFTD is often diagnosed in infancy or…
Prostate cancer, also called prostatic carcinoma, is a specific type of cancer that affects the prostate gland in men. It is one of the most common types of cancer, with a high frequency of occurrence in older men. Prostate cancer…
The CPS1 gene, which stands for carbamoyl-phosphate synthetase 1, is a gene that is part of the cycle-related genes. This gene is responsible for encoding the enzyme carbamoyl-phosphate synthetase 1, which plays a crucial role in the urea cycle. Deficiency…
The RSPO4 gene is part of the R-spondin family, which plays a key role in skeletal development and signaling. This gene is involved in various genetic conditions and diseases, including anonychia congenita and other skeletal malformations. Genetic testing and variant…
The COQ4 gene is a key genetic component involved in the coenzyme Q10 (CoQ10) biosynthesis pathway. Coenzyme Q10, also known as ubiquinone, is a vital protein that plays a central role in energy production within the body. Deficiency of CoQ10…
Ellis-van Creveld syndrome, also known as chondroectodermal dysplasia, is a rare genetic condition that affects various parts of the body. It is characterized by short stature, dwarfism, skeletal abnormalities, and various congenital defects. The condition is named after Richard W.…
The DPYS gene, also known as dihydropyrimidinase, is responsible for the production of the enzyme dihydropyrimidinase. This enzyme is involved in the breakdown of pyrimidines, which are a type of organic compound found in DNA and RNA. Dihydropyrimidinase deficiency, also…
The TYMP gene, also known as thymidine phosphorylase, is an important gene involved in mitochondrial nucleoside metabolism. Mutations in this gene can lead to various genetic conditions and diseases, including mitochondrial neurogastrointestinal encephalopathy. TYMP gene mutations can cause a recessive…
The DNMT3A gene, also known as DNA methyltransferase 3 alpha, plays a critical role in the normal genetic process. This gene is involved in the methylation of DNA, which is essential for the regulation of gene expression, genomic imprinting, and…