KEGG   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.
Category
Urinary system disease
Gene
CD151 [HSA:977] [KO:K06537]
Other DBs
MeSH: C563798
OMIM: 609057
Reference
PMID:15265795
  Authors
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.
  Journal
Blood 104:2217-23 (2004)
DOI:10.1182/blood-2004-04-1512
Reference
PMID:17015618
  Authors
Sachs N, Kreft M, van den Bergh Weerman MA, Beynon AJ, Peters TA, Weening JJ, Sonnenberg A
  Title
Kidney failure in mice lacking the tetraspanin CD151.
  Journal
J Cell Biol 175:33-9 (2006)
DOI:10.1083/jcb.200603073

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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