Alport syndrome
a familial condition characterized by hematuria (bloody urine), nephropathy (disease of the kidney), and deafness. Hematuria may first appear in infancy, whereas deafness is likely to develop around puberty. The condition also may be accompanied by cataracts and intellectual disability. It is caused by mutation of the genes COL4A3, COL4A4, COL4A5, or COL4A6, which specify chains of basement membrane (Type IV) collagen. [described in 1927 by Arthur Cecil Alport (1879–1959), British physician]