Genetic conditions are disorders that are caused by abnormalities in a person’s genes or chromosomes. One such genetic condition is Seedarier, which is caused by a mutation in the DNajc19 gene. This condition affects the growth and development of the…
Progressive Familial Intrahepatic Cholestasis (PFIC) is a rare genetic condition that causes the damaging buildup of bile acids and phospholipids in the liver. This buildup results in cholestasis, a condition characterized by impaired bile flow. There are several types of…
Primary ciliary dyskinesia (PCD) is a rare genetic condition associated with abnormalities in the functioning of cilia, which are the hair-like structures that line the respiratory tract and other tissues in the body. These cilia play a crucial role in…
Waldenström macroglobulinemia (WM), also known as lymphoplasmacytic lymphoma, is a rare type of blood cancer that results in the overproduction and accumulation of abnormal proteins called macroglobulins. This condition is often caused by a genetic mutation in the MYD88 gene,…
Progressive external ophthalmoplegia (PEO) is a rare genetic condition that affects the muscles responsible for eye movement. It is characterized by the progressive weakness of the eye muscles, leading to various eye movement abnormalities. PEO can cause drooping of the…
The PIGA gene, also known as Phosphatidylinositol Glycan Anchor Biosynthesis Class A, plays a crucial role in the production of a specific protein in the body. This gene is related to various diseases and conditions, including paroxysmal nocturnal hemoglobinuria (PNH)…
Neuroblastoma is a type of cancer that often occurs in young children, usually under the age of 5. It is thought to be caused by a genetic mutation that leads to the rapid development and proliferation of neuroblastoma cells. This…
Zellweger spectrum disorder (ZSD) is a rare genetic disorder characterized by the malfunctioning of peroxisomes, small organelles found in cells. The disorder falls under the category of peroxisomal biogenesis disorders (PBDs) and is inherited in an autosomal recessive manner. ZSD…
The SLC40A1 gene is a key player in the iron-regulated transport of iron. It is involved in various essential functions in the body, including the regulation of iron levels in tissues. This gene is associated with a hereditary condition known…
Leukoencephalopathy with vanishing white matter (VWM) is a rare genetic condition that affects the brain’s white matter, causing it to gradually disappear over time. This condition is also known as childhood ataxia with central nervous system hypomyelination (CACH), and it…