Osteochondritis Dissecans (OCD) is a rare condition that affects the bones and joints. It is characterized by the detachment of a piece of cartilage and underlying bone from the joint. Familial Osteochondritis Dissecans is a specific form of this condition…
Hereditary folate malabsorption (HFM) is a rare genetic condition that affects the body’s ability to absorb and utilize folates, essential vitamins for normal cell function and growth. This condition is also known as hereditary folate malabsorption syndrome and is inherited…
The EIF2AK4 gene, also known as eIF2alpha kinase 4, is a gene that has been found to be associated with various diseases, including pulmonary veno-occlusive disease (PVOD) and pulmonary arterial hypertension. This gene is responsible for encoding a protein that…
Tumor myeloma is a type of cancer that affects plasma cells, which are a kind of white blood cell. This condition is characterized by the abnormal growth of these cells in the bone marrow, leading to the formation of tumors.…
The CRLF1 gene, also known as the cytokine receptor-like factor 1 gene, is a complex genetic receptor-like gene. It plays a crucial role in the regulation of body temperature, sweating, and other related conditions. Various scientific articles and databases provide…
The EPOR gene, also known as the erythropoietin receptor gene, is a gene that plays a central role in the signaling pathway for erythropoietin, a hormone that regulates red blood cell production in the body. Mutations or changes in this…
Sick sinus syndrome (SSS) is a rare condition that affects the electrical signals in the heart and causes slow and irregular heartbeats. It occurs when the sinus node, which generates the electrical signals that control the heartbeat, doesn’t function properly.…
Propionic acidemia is a rare genetic condition that causes a deficiency in the enzyme propionyl-CoA carboxylase. This enzyme is responsible for breaking down certain amino acids and fats in the body. Without enough of this enzyme, propionic acid and other…
Multiple epiphyseal dysplasia (MED) is a rare genetic condition that affects the development of bones. It is distinguished by abnormalities in the growth plates, which are areas of cartilage at the ends of long bones that allow for bone growth.…
The SRD5A2 gene is a key player in the development of various conditions and disorders. It is involved in the production of enzymes that play a crucial role in the metabolism of steroid hormones. Scientific studies have shown that changes…