Nephropathy with pretibial epidermolysis bullosa and deafness

Nephropathy with pretibial epidermolysis bullosa and deafness is an autosomal recessive disorder caused by mutations of the CD151 gene. So far only one truncating frameshift mutation is known. In the family affected members show an heretitary nephritis phenotype similar to Alport and also deafness and bullose epidermolysis.

Systematic

Glomerular basement membrane disorders
	Alport Syndrome
	HANAC syndrome
	Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
	MYH9 related disorders
	Nail-patella syndrome
	Nephropathy with pretibial epidermolysis bullosa and deafness
		CD151
	PXDN
	Thin basement membrane nephropathy

References:

1.	Karamatic Crew V et al. (2004) 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.

2.	Kagan A et al. (1988) Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease.

3.	OMIM.ORG article Omim 609057