ORPHA:3156
Senior-Loken syndrome
Also known as: Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome · SLSN
Clinical definition (Orphanet)
A rare oculo-renal ciliopathy characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal .
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Is anyone studying this?
909
909 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
909 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
494 in the last 10 years · medium confidence · 91th percentile (publications denominator)
Is a treatment being tested?
1
trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 26 July 2026
1 interventional trial — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 65.3th percentile).
medium confidence · 65.3th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (NPHP3, SCLT1).
GenCC classification: Definitive.
Who's working on it?
1,230
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Cremers FPM7 papers · 2026
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Papers in Europe PMC - 02Sharon D6 papers · 2026
Division of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112001, Israel.
Papers in Europe PMC - 03Li S5 papers · 2026
From the The State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou 510060, China.
Papers in Europe PMC - 04Sayer JA5 papers · 2026
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
Papers in Europe PMC - 05Ben-Yosef T4 papers · 2025
Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Papers in Europe PMC - 06Roosing S4 papers · 2026
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Susanne.Roosing@radboudumc.nl.
Papers in Europe PMC - 07Tsang SH4 papers · 2025
Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Papers in Europe PMC - 08Wang J4 papers · 2025
Department of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Maternity and Child Health Care Hospital, No. 290 West Second Street, Shayan Road, Chengdu, 610045, Sichuan, China.
Papers in Europe PMC - 09Yi S4 papers · 2024
Genetic and Metabolic Central Laboratory, Guangxi Birth Defects Research and Prevention Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Papers in Europe PMC - 10Banin E3 papers · 2026
Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Senior-Loken syndrome" OR "Nephronophthisis with retinal dystrophy" OR "Renal dysplasia-retinal aplasia syndrome"
MeSH descriptor terms unioned into the query: Senior Loken Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Senior-Loken syndrome" OR "Nephronophthisis with retinal dystrophy" OR "Renal dysplasia-retinal aplasia syndrome" OR "Senior Loken Syndrome" OR "NPHP3" OR "SCLT1"
Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C537580 UMLS:C0403553 NCIT:C168588
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SLSN
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus