by CheckRare Staff | Sep 17, 2019
Mucopolysaccharidoses (MPSs) are a group of genetic lysosomal disorders in which persons have low levels of specific enzymes that leads to an abnormal accumulation of complex carbohydrates (mucopolysaccharides or glycosaminoglycans). There are numerous types of...
by CheckRare Staff | Apr 1, 2019
Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system. There are three types of neurofibromatosis: Neurofibromatosis type 1 (NF1). Signs and symptoms are usually present at birth. Neurofibromatosis type 2 (NF2). Signs and...
by CheckRare Staff | Jan 18, 2019
Acute myeloid leukemia (AML) is a cancer that affects the blood and bone marrow. The signs and symptoms of AML vary but may include easy bruising; bone pain or tenderness; fatigue; fever; frequent nosebleeds; bleeding from the gums; shortness of breath; and/or weight...
by CheckRare Staff | Jan 14, 2019
Lysosomal storage disorders (LSDs) are a group of about 50 genetic diseases caused by defects in lysosomal proteins or lysosomal related-proteins, which results in dysfunction of lysosomes. Most LSDs are caused by the genetic absence of a single catabolic enzyme,...
by CheckRare Staff | Dec 16, 2018
Niemann-Pick disease (NPD) is a group of rare metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms may include lack of muscle coordination, brain degeneration, learning...
