Senior-Loken syndrome 1

Common Name(s)

Senior-Loken syndrome 1

Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see {256100}) and Leber congenital amaurosis (see {204000}). Mutations in some of the same genes that cause nephronophthisis (see {256100}) cause Senior-Loken syndrome. Genetic Heterogeneity of Senior-Loken Syndrome Other forms of SLSN include SLSN4 ({606996}), caused by mutation in the NPHP4 gene ({607215}) on chromosome 1p36; SLSN5 ({609254}), caused by mutation in the NPHP5 gene (IQCB1; {609237}) on chromosome 3q21; SLSN6 ({610189}), caused by mutation in the NPHP6 gene (CEP290; {610142}) on chromosome 12q21; and SLSN7 ({613615}), caused by mutation in the SDCCAG8 gene ({613524}) on chromosome 1q44. Another form of SLSN, SLSN3 ({606995}), has been mapped to a locus on chromosome 3q22, overlapping the NPHP3 locus ({604387}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Senior-Loken syndrome 1" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

Our mission is to serve individuals worldwide who are diagnosed with Joubert Syndrome and related disorders, their families and support networks by creating opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

Last Updated: 28 Oct 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Senior-Loken syndrome 1" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

Our mission is to serve individuals worldwide who are diagnosed with Joubert Syndrome and related disorders, their families and support networks by creating opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

http://www.jsrdf.org

Last Updated: 28 Oct 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Senior-Loken syndrome 1" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Senior-Loken syndrome 1" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.