Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818]: A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Clinical manifestation of red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. Note=The disease is caused by mutations affecting the gene represented in this entry. Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]: An X-linked recessive developmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Most affected individuals die in infancy. Note=The disease is caused by mutations affecting the gene represented in this entry.
Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.