Epidermolysis bullosa simplex (EBS) is one of the types of epidermolysis bullosa (EB), a group of rare genetic disorders that cause the skin to be fragile and prone to blistering. EBS is formerly known as epidermolysis bullosa simplex, generalized. It…
Familial dilated cardiomyopathy is a rare genetic heart condition that causes the chambers of the heart to become enlarged and weaken, leading to heart failure. This condition is typically inherited through a pattern called autosomal dominant inheritance, which means that…
Spondyloperipheral dysplasia is a rare genetic condition characterized by abnormalities in the growth and development of certain tissues, including bones and cartilage. It is associated with mutations in the COL2A1 gene, which provides instructions for making a protein called collagen,…
The PHKA2 gene is a genetic mutation that is responsible for a rare metabolic disease known as Glycogen Storage Disease Type IXa. Although this gene is not well known, scientific research and registries have been established to gather information and…
Peutz-Jeghers Syndrome (PJS) is a rare condition that is characterized by the occurrence of polyps in the gastrointestinal tract. The frequency of this condition is rare, affecting about 1 in 50,000 to 1 in 200,000 people. PJS is different from…
The LMBRD1 gene is related to the production of proteins that play a crucial role in lysosomal function. Mutations in this gene can lead to various genetic conditions and diseases, such as methylmalonic acidemia and homocystinuria. The LMBRD1 gene is…
The TGM5 gene is a genetic variant that has been associated with a rare syndrome called Transglutaminase 5 deficiency. This syndrome is characterized by changes in the skin, particularly the cornified envelope, which is the outermost layer of the skin.…
Genes E is a matrix of genes that play a crucial role in various biological processes. These genes are responsible for encoding proteins that are involved in important cellular functions, such as cell signaling, DNA repair, and metabolism. One of…
The TP63 gene, also known as “Tumor Protein p63”, is a crucial gene that has gained significant attention in the scientific community. This variant of TP63 is associated with an array of genetic disorders and conditions, making it a target…
Huntington disease is a rare genetic neurological disease that causes the progressive degeneration of brain cells. It is also known as Huntington’s Disease (HD) or Huntington’s Chorea. The disease is caused by a mutation in the huntingtin (HTT) gene, which…