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Disease Profile
Senior Loken Syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Adolescent
ICD-10
Q61.5
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Senior-Loken Syndrome; Renal dysplasia retinal aplasia; Renal-retinal syndrome;
Categories
Congenital and Genetic Diseases; Eye diseases; Kidney and Urinary Diseases
Summary
Senior Loken
SLS affects the eyes by causing varying degrees of retinal dystrophy, which is progressive wasting of the retina (the part of the eye that senses light and sends images to the brain). Some children with SLS have a severe type of retinal dystrophy at birth called Leber congenital amaurosis (LCA). Symptoms of LCA include severe farsightedness, light sensitivity (photophobia), and
In rare cases, additional symptoms such as liver fibrosis or skeletal abnormalities have been reported.[3][5]
SLS may be caused by
Treatment during earlier stages of kidney disease in children includes maintaining a healthy balance of fluid and electrolytes. End-stage kidney disease requires
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Abnormality of retinal pigmentation | 0007703 | |
| Global |
0001263 | |
| 0000822 | ||
| Retinal dystrophy |
Breakdown of light-sensitive cells in back of eye
|
0000556 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Stage 5 chronic |
0003774 | |
| 30%-79% of people have these symptoms | ||
| Nephronophthisis | 0000090 | |
| Premature ovarian insufficiency |
Early menopause
Premature menopause
Premature ovarian failure
[ more ] |
0008209 |
| Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] |
0000529 |
| 5%-29% of people have these symptoms | ||
| Abnormality of bone mineral density | 0004348 | |
| 0001251 | ||
|
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
| Cone-shaped epiphysis |
Cone-shaped end part of bone
|
0010579 |
|
Excessive buildup of connective tissue and scarring of liver at birth
|
0002612 | |
| Percent of people who have these symptoms is not available through HPO | ||
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| 0000007 | ||
| Polydipsia |
Extreme thirst
|
0001959 |
| Polyuria |
Increased urine output
|
0000103 |
| Rod-cone dystrophy | 0000510 | |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
SLSN presents genetic and clinical overlap with other ciliopathies, in particular with isolated NPHP, Joubert syndrome related diseases (JSRD), mainly Joubert syndrome with oculorenal defect (JS-OR), Bardet-Biedl syndrome (BBS) and Alström syndrome (see these terms). Physical examination should consider the presence of the main clinical signs of JSRD (hypotonia, ataxia and breathing abnormalities in infants) and BBS (polydactyly and obesity). The phenotypic hallmark of JSRD is the presence on MRI of 'molar tooth sign' (a midbrain-hindbrain malformation). Other extrarenal signs to consider are nystagmus, psychomotor and learning delay, diabetes mellitus, deafness, hypogonadism, and/or scoliosis.
Visit the Orphanet disease page for more information.
|
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus Genetics contains information on Senior Loken Syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
References
- Senior-Løken syndrome. Genetics Home Reference (GHR). June 2012; https://ghr.nlm.nih.gov/condition/senior-loken-syndrome.
- Nephronophthisis. Genetics Home Reference. September, 2014; https://ghr.nlm.nih.gov/condition/nephronophthisis.
- Senior Løken Syndrome. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/senior-loken-syndrome/.
- Ronquillo CC, Bernstein PS, Baehr W. Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. Vision Res. December 15, 2012; 75:88-97. https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22819833/.
- Qiu L, Mais DD. Clinicopathologic Features of Hepatic Involvement in SeniorLoken Syndrome: A Case Report and Review of Literature. J Liver Clin Res. October, 2017; 4(2):1037. https://www.jscimedcentral.com/Liver/liver-4-1037.pdf.
- Niaudet P. Clinical manifestations, diagnosis, and treatment of nephronophthisis. UpToDate. Waltham, MA: UpToDate; September 14, 2017; https://www.uptodate.com/contents/clinical-manifestations-diagnosis-and-treatment-of-nephronophthisis.
- Avila A, Ayuso C, Corton M, Millan Salvador JM. Senior-Loken syndrome. Orphanet. December, 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156.