by CheckRare Staff | Aug 8, 2017
X-linked juvenile retinoschisis (XLRS) is a genetic ocular disease characterized by reduced visual acuity in males due to juvenile macular degeneration. Symptoms X-linked juvenile retinoschisis manifests with poor vision and reading difficulties. In severe cases,...
by CheckRare Staff | Aug 8, 2017
Overview Pulmonary arterial hypertension (PAH) is a rare, progressive disorder characterized by high blood pressure (hypertension) in the arteries of the lungs (pulmonary artery) for no apparent reason. The pulmonary arteries are the blood vessels that carry blood...
by CheckRare Staff | Jul 25, 2017
Cushing’s disease is a rare subset of Cushing’s syndrome, an endocrine disorder caused by prolonged exposure of the body’s tissues to high levels of cortisol. Cushing’s disease is caused specifically by a pituitary tumor secreting adrenocorticotropic hormone (ACTH)....
by CheckRare Staff | Jul 25, 2017
Other Names: Deletion 5q; Monosomy 5q; 5q deletion Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms...
by CheckRare Staff | May 7, 2017
Ring Chromosome 20 syndrome is a rare human chromosome abnormality where the two arms of chromosome 20 fuse to form a ring chromosome. The syndrome is associated with epileptic seizures, behaviour disorders and mental retardation. When not all cells contain a ring...
