PURA Syndrome
PURA syndrome is a rare genetic disorder. The PURA gene is located on chromosome 5's long arm (at position 5q31.2). When one of a person's two copies of the PURA…
PURA syndrome is a rare genetic disorder. The PURA gene is located on chromosome 5's long arm (at position 5q31.2). When one of a person's two copies of the PURA…
Grayson's Syndrome is a mitochondrial disorder that is highly uncommon. This illness, also known as Grayson Wilbrandt corneal dystrophy (GWCD), is one of the most uncommon kinds of corneal dystrophy,…
Overview The median arcuate ligament syndrome, MALS (also known as celiac artery compression syndrome) is a rare disorder characterized by postprandial stomach discomfort, accidental weight loss, and an epigastric bruit.…
Overview The Klippel Trenaunay syndrome is an uncommon congenital disorder characterized by abnormal formation of blood vessels and/or lymph vessels. The syndrome is characterized by three features: a port-wine stain,…
Overview Olmsted syndrome is an uncommon congenital palmoplantar keratoderma that is finely circumscribed and progressive. These lesions are accompanied by reddish skin and joint deformities that cause restriction and spontaneous…
Overview of purple urine bag syndrome Purple urine bag syndrome (PUBS) is a complication of urinary tract infections (UTIs) characterized by the discoloration of catheter bags and tubing. It is…
Overview of Menkes disease A faulty ATP7A gene causes Menkes disease, a hereditary genetic disorder. Menkes syndrome causes copper absorption deficiency. This results in arterial changes and degeneration of the…
Overview Brittle bone disorder results in bones that are weak and shatter readily. It typically manifests at birth, however it has only been documented in children with a family history…
Overview of Huntington's disease Huntington's disease is an inherited condition. It is transmitted from parents to offspring. If a parent has Huntington's disease, there is a 50% risk that the…
Osteoporosis is a condition characterized by the degeneration and weakness of bone tissue. Over time, osteoporosis might progress. This can lead the bone to become progressively porous and more brittle…
Overview Juvenile idiopathic arthritis (formerly known as systemic juvenile rheumatoid arthritis) is an umbrella term encompassing adolescent rheumatic disorders that begin before the age of 16 and are defined by…
Peritoneal mesothelioma is a malignancy that develops in the peritoneum, which is the lining of the abdomen. The most effective treatment for this kind of mesothelioma is surgery with hot…
Silica exists naturally in the majority of rocks, sand, and clay, as well as in products such as bricks and concrete. Additionally, silica is utilized as a filler in some…
Overview Barrett's esophagus is a disorder in which squamous cells, the normal cells that line the esophagus, transform into specialized columnar cells, which are not typically found in humans. This…
Cancer of the thyroid medulla is an uncommon kind of thyroid cancer. The term medullary indicates the sort of thyroid gland cells that are damaged by malignancy. The majority of…