Tangier disease is caused by a mutation in the ATP-binding cassette A1 (ABCA1) gene, which produces severe high-density lipoprotein (HDL) deficiency syndrome. Tangier illness is a genetic metabolic ailment that is highly rare. It induces reverse cholesterol transport (RCT) dysfunction, which leads to cholesterol deposition in peripheral tissue cells and a variety of clinicopathological alterations, including dyslipidemia and the early beginning o  Read More

Familial high-density lipoprotein deficiency is a genetic condition that affects your ability to make high-density lipoprotein (HDL), or "good," cholesterol.If you have familial high-density lipoprotein deficiency, you may not be able to make enough HDL cholesterol. Low levels of HDL cholesterol are associated with an increased risk of cardiovascular disease and stroke.People with familial high-density lipoprotein  Read More

Neonatal lupus erythematosus (NLE) is a rare but serious condition that can affect newborns. It's important to know what the risk factors are so that you can take steps to protect your baby and prevent NLE.The most common risk factor for NLE is being born to a mother who has had lupus, or having one or more family members who have lupus. However, not all babies born to mothers with lupus develop NLE—i  Read More

Ward-Romano syndrome is a rare genetic disorder that affects the development of the bones and joints of your fingers and toes. This condition can make it difficult to move your fingers and toes, which can cause pain or discomfort.Ward-Romano syndrome is caused by a mutation in a gene called GLI3. This gene helps regulate how cells divide and grow in the body. When this gene is mutated, it causes improper developmen  Read More