DISEASE: Nephropathy with pretibial epidermolysis bullosa and deafness
Entry
H00928 Disease
Name
Nephropathy with pretibial epidermolysis bullosa and deafness
Description
Nephropathy with pretibial epidermolysis bullosa and deafness is a hereditary nephritis. Patients also have pretibial bullous skin lesions and neurosensory deafness. Nonsense mutations in CD151, an essential protein for the proper assembly of the basement membrane, lead to complete separation of the epidermis from the dermis.
Karamatic Crew V, Burton N, Kagan A, Green CA, Levene C, Flinter F, Brady RL, Daniels G, Anstee DJ
Title
CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.
