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...
by CheckRare Staff | Nov 20, 2018
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow...
