Senior-Loken syndrome 1

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Senior-Loken syndrome 12016-11-28T02:56:09+00:00

Senior-Loken syndrome 1 

NEPHROLOGY, OPHTHALMOLOGY

An autosomal recessive disorder (OMIM:266900) characterised by nephronophthisis—progressive atrophy of nephrons, variably accompanied by medullary cystic renal disease, and Leber congenital amaurosis—progressive retinal degeneration, appearing in the first year of life.

Molecular pathology Defects in NPHP1, which encodes a protein that plays a role in controlling cell division, in cell-cell and cell-matrix adhesion signaling, epithelial cell polarity, in organising apical junctions in kidney cells, in regulating intraflagellar transport during ciliogenesis, in retina development, and in spermatogenesis, cause Senior-Loken syndrome 1. 

Synonyms Hereditary renal-retinal dysplasia, juvenile familial nephropathy-tapetoretinal degeneration syndrome, juvenile nephronophthisis with Leber amaurosis, Loken-Senior syndrome, nephrophthisis-tapetoretinal degeneration syndrome, oculorenal dystrophy, renal-retinal dysplasia syndrome, renal-retinal dystrophy, retinal dysplasia and retinal aplasia, renal-retinal syndrome, Senior-Biochi syndrome, Senior-Loken syndrome, tubulo-interstitial nephropathy-tapetoretinal degeneration syndrome 

References http://www.uniprot.org/uniprot/O15259

http://www.omim.org/entry/266900

 

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