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Senior-Loken syndrome (juvenile nephronophthisis with Leber amaurosis)
Pathology: renal-retinal disease
Genetics:
- autosomal recessive
- associated with defects in NPHP1, NPHP4
- associated with defects in IQCB1 gene (type 5)
- associated with defects in CEP290 (type 6) [2]
- associated with defects in SDCCAG8 (type 7) [3]
Clinical manifestations:
- progressive wasting of renal glomeruli
- with or without medullary cystic renal disease
- progressive eye disease
- generally manifests during 1st year of life
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM correlations
References
- OMIM :accession 266900
- OMIM :accession 610189
- OMIM :accession 613615