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ORPHA:3156

Senior-Loken syndrome

medium confidenceDisorder

Also known as: Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome · SLSN

Publications

2,555

89.5th percentile

Trials

1

Interventional, condition-specific

Researchers

1,230

Distinct authors in sample

Gene link

NPHP3, SCLT1

Definitive

Readiness

5/6

Stages with a signal

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

nephronophthisis with retinal dystrophy · renal dysplasia-retinal aplasia syndrome

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — NPHP3, SCLT1

  2. LiteraturePresent

    2,555 matched papers (1,525 in last 10 years) Source

  3. Phenotype characterisedPresent

    101 HPO annotations (e.g. Stage 5 chronic kidney disease; Nephronophthisis; Rod-cone dystrophy) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (NPHP3, SCLT1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

101

Associated phenotypes · MONDO:0017842

  • Stage 5 chronic kidney disease
  • Nephronophthisis
  • Rod-cone dystrophy
  • Undetectable electroretinogram
  • Visual loss

Showing 5 of 101 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-27

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,555

2,555 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=3967) is 59.

2,555 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,525 in the last 10 years · medium confidence · 89.5th percentile (publications denominator)

Phrase hits: 909 · MeSH hits: 25

Open Europe PMC search

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.

  1. 01
    Cremers FPM7 papers · 2026

    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

    Papers in Europe PMC
  2. 02
    Sharon D6 papers · 2026

    Division of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112001, Israel.

    Papers in Europe PMC
  3. 03
    Li 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
  4. 04
    Sayer JA5 papers · 2026

    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

    Papers in Europe PMC
  5. 05
    Ben-Yosef T4 papers · 2025

    Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

    Papers in Europe PMC
  6. 06
    Roosing S4 papers · 2026

    Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. Susanne.Roosing@radboudumc.nl.

    Papers in Europe PMC
  7. 07
    Tsang 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
  8. 08
    Wang 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
  9. 09
    Yi 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
  10. 10
    Banin E3 papers · 2026

    Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 9 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-27

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Senior-Loken syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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 on the overview but are not added to the query string.

("Senior-Loken syndrome" OR "Nephronophthisis with retinal dystrophy" OR "Renal dysplasia-retinal aplasia syndrome") OR (MESH:"Senior Loken Syndrome") OR ("NPHP3" OR "NPHP3 syndrome" OR "NPHP3-related" OR "SCLT1" OR "SCLT1 syndrome" OR "SCLT1-related")

Run this search on Europe PMC

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"

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.

Query health: ok — strategies attempted: phrase, mesh; 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

Ingested 2026-07-26T01:40:13.957Z