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Genetic and Rare Diseases Information Center (GARD)

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Senior Loken Syndrome


Other Names for this Disease
  • Juvenile nephronophthisis with Leber amaurosis
  • Loken-Senior syndrome
  • Nephronophthisis with retinal dystrophy
  • Renal dysplasia - retinal aplasia
  • Renal dysplasia retinal aplasia
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Overview

Senior Loken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. It can be caused by mutations in one of at least six genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. These microscopic, finger-like projections stick out on the surface of cells and are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including certain cells in the kidneys. They are also necessary for the perception of sensory input (such as vision, hearing, and smell). Senior Loken syndrome is inherited in an autosomal recessive pattern.[1]
Last updated: 4/13/2015

References

  1. Senior-Løken syndrome. Genetics Home Reference (GHR). June 2012; http://ghr.nlm.nih.gov/condition/senior-loken-syndrome. Accessed 4/13/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Senior Loken Syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Senior Loken Syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Juvenile nephronophthisis with Leber amaurosis
  • Loken-Senior syndrome
  • Nephronophthisis with retinal dystrophy
  • Renal dysplasia - retinal aplasia
  • Renal dysplasia retinal aplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.