Learn About Senior-Loken Syndrome

What is the definition of Senior-Loken Syndrome?

Senior-Løken 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.

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What are the causes of Senior-Loken Syndrome?

Senior-Løken syndrome can be caused by mutations in one of at least five genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells; they 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).

How prevalent is Senior-Loken Syndrome?

Senior-Løken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature.

Is Senior-Loken Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Senior-Loken Syndrome Local Doctors?
Highly rated in

University Of Manchester

Manchester Royal Eye Hospital 
Manchester, ENG, GB 

Panagiotis Sergouniotis is in Manchester, United Kingdom. Sergouniotis is rated as a Distinguished expert by MediFind in the treatment of Senior-Loken Syndrome. He is also highly rated in 15 other conditions, according to our data. His top areas of expertise are Senior-Loken Syndrome, X-Linked Congenital Stationary Night Blindness, Leber Congenital Amaurosis, and Late-Onset Retinal Degeneration.

Highly rated in

Hôpital Charles Nicolle

Tunis, TN 

Tahar Gargah is in Tunis, Tunisia. Gargah is rated as a Distinguished expert by MediFind in the treatment of Senior-Loken Syndrome. They are also highly rated in 13 other conditions, according to our data. Their top areas of expertise are Senior-Loken Syndrome, Primary Hyperoxaluria Type 1, Primary Hyperoxaluria, and Nephrocalcinosis.

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Highly rated in

University Of Manchester

Genomics England, The William Harvey Research Institute, Ucl Genetics Institute, Gosgene, Genetics And Genomic Medicine Programme, National Institute For Health Research Great Ormond Street Hospital Biomedical Research Centre, Infection, Immunity And Inflammation Research And Teaching Department, Stem Cells And Regenerative Medicine, And Mitochondrial Research Group, Ucl Ear Institute, The Department Of Renal Medicine, The Metabolic Unit, Institute Of Cancer Research, Midwifery And Palliative Care, Division Of Genetics And Molecular Medicine, Nihr Brc At Moorfields Eye Hospital, Hammersmith Hospital, London, Open Targets And European Molecular Biology Laboratory European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, The Division Of Evolution And Genomic Sciences, Faculty Of Biology, St. Mary's Hospital, Manchester, The Department Of Genetic And Genomic Medicine, Cardiff University, The Medical Research Council Mitochondrial Biology Unit, The School Of Clinical Medicine, The Department Of Medicine, Nihr Bioresource, Cambridge University Hospitals, And Addenbrooke's Hospital, Congenica, Illumina Cambridge, Nhs Blood And Transplant And Wellcome Sanger Institute, Nihr Oxford Brc, The Oxford Centre For Genomic Medicine, Oxford Genetics Laboratories, Churchill Hospital, The Mrc Weatherall Institute Of Molecular Medicine And The Oxford Epilepsy Research Group, John Radcliffe Hospital, Oxford, Peninsula Clinical Genetics Service, Royal Devon And Exeter Hospital, Exeter, Newcastle Eye Centre, Royal Victoria Infirmary, The Institute Of Genetic Medicine, Newcastle University, Wellcome Centre For Mitochondrial Research, Translational And Clinical Research Institute, Faculty Of Medical Sciences, Newcastle University, Highly Specialised Mitochondrial Service And Northern Genetics Service, Newcastle Upon Tyne, The Institute Of Cancer And Genomic Sciences, Institute Of Biomedical Research, Birmingham, The Genomic Informatics Group, Liverpool, The School Of Cellular And Molecular Medicine, Bristol And Yorkshire And Humber, Sheffield Children's Hospital 
Sheffield, ENG, GB 

Graeme Black is in Sheffield, United Kingdom. Black is rated as a Distinguished expert by MediFind in the treatment of Senior-Loken Syndrome. He is also highly rated in 27 other conditions, according to our data. His top areas of expertise are Brittle Cornea Syndrome, Senior-Loken Syndrome, Late-Onset Retinal Degeneration, and 3M Syndrome.

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Published Date:updated Last, June

Published By: National Institutes of Health

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