by CheckRare Staff | May 17, 2018
Congenital hyperinsulinism is a condition causing abnormally high levels of insulin, a hormone that helps control blood sugar levels. People with this condition have frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are...
by CheckRare Staff | May 8, 2018
BRCA1 Hereditary Breast and Ovarian Cancer Syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of...
by CheckRare Staff | Nov 10, 2017
The congenital myasthenic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmission at the motor endplate, a special synaptic contact between motor axons and each skeletal muscle fibre. Most CMS stem from molecular defects in the...
by CheckRare Staff | Nov 4, 2017
Mucopolysaccharidosis type 1 (MPS I) is a condition that affects many parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by mutations in the IDUA gene. These mutations...
by CheckRare Staff | Nov 2, 2017
Charcot Marie Tooth type 1a is the most common form of CMT, comprising around 66 percent of all patients with Charcot Marie Tooth type 1. It is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and...
