by CheckRare Staff | Apr 8, 2020
Thrombotic thrombocytopenic purpura (TTP) is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in...
by CheckRare Staff | Apr 5, 2020
WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary problems (such...
by CheckRare Staff | Jan 7, 2020
Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The SMN protein appears to play a role in regulating small nuclear ribonucleoproteins...
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...
