Disease Directory

Loeys-Dietz syndrome is a genetic connective tissue condition that primarily affects the blood vessels, skeleton, skin, and craniofacial structures. I...

Loeys-Dietz syndrome 1 is a rare autosomal dominant disorder caused by mutations in the TGFBR1 gene. This condition affects the blood vessels and cert...

Loeys-Dietz syndrome 2 is a rare inherited disorder that affects the body’s connective tissue. It is an autosomal dominant condition caused by changes...

Loeys-Dietz syndrome 4 is a rare genetic condition that is caused by a mutation in the TGFB2 gene. This condition is part of the broader group of Loey...

Loeys-Dietz syndrome 6 is a connective tissue disorder that affects the cardiovascular, skeletal, and craniofacial systems. It is caused by pathogenic...

Lowe-Kohn-Cohen syndrome is an extremely rare condition that affects the development of the anal and rectal region. It is characterized by an imperfor...

Lown-Ganong-Levine syndrome is an extremely rare heart conduction disorder. It is seen on an electrocardiogram as a short PR interval (120 millisecond...

Lowry-MacLean syndrome is a very rare condition that affects multiple parts of the body. People with this condition often have a smaller head size (mi...

Lowry-Wood syndrome is a very rare condition, with fewer than 10 cases reported in the medical literature. It is a genetic disorder that affects bone...

Lujo hemorrhagic fever is a rare and severe illness caused by the Lujo virus, which belongs to the Old World arenaviruses. It was first identified in...

Luscan-Lumish syndrome is a rare condition that has been identified through genetic studies and is associated with changes in the SETD2 gene. The cond...

Lutembacher syndrome is a rare heart condition that involves two main features. It is defined by the presence of an ostium secundum atrial septal defe...

Lyell syndrome is a severe condition characterized by a widespread loss of the skin’s outer layer (epithelium) and mucous membranes. In people with th...

Lyme disease is a bacterial infection caused by Borrelia burgdorferi, primarily transmitted through tick bites. While the genetic basis of Lyme diseas...

Lynch syndrome is an autosomal dominant hereditary neoplastic syndrome that predisposes individuals to a range of cancers, most colorectal and endomet...

Lynch syndrome 1 is an inherited condition that increases the risk for several types of cancer. It is caused by changes in the MSH2 gene, which plays...

Lynch syndrome 2 is an inherited condition that increases the risk of several types of cancer. It is caused by changes (pathogenic variants) in the ML...

Lynch syndrome 4 is an inherited condition caused by changes in the PMS2 gene. It is passed down in an autosomal dominant pattern, meaning that having...

Lynch syndrome 5 is an inherited condition caused by changes in the MSH6 gene. It is an autosomal dominant syndrome, meaning that a change in just one...

Lynch syndrome 8 is a hereditary condition that increases the risk for colon cancer. It is caused by a specific genetic change where a part of the EPC...