| 释义 |
diffuse angiokeratoma Fa·bry dis·ease (fah'brē), [MIM*301500] disease due to deficiency of α-galactosidase and characterized by abnormal accumulations of neutral glycolipids (for example, globotriaosylceramide) in endothelial cells in blood vessel walls. Clinical findings include angiokeratomas on the thighs, buttocks, and genitalia; hypohidrosis; paresthesia in the extremities, cornea verticillata, and spokelike posterior subcapsular cataracts. Death results from renal, cardiac, or cerebrovascular complications; X-linked recessive inheritance caused by mutation of the α-galactosidase gene (GLA) on Xq. Synonym(s): angiokeratoma corporis diffusum, diffuse angiokeratoma, glycolipid lipidosisFabry, Johannes, German dermatologist, 1860-1930. Anderson-Fabry disease - Synonym(s): Fabry diseaseFabry disease - an X-linked recessive disorder of glycosphingolipid metabolism. Synonym(s): Anderson-Fabry disease; diffuse angiokeratoma; glycolipid lipidosis |