ORPHA:559
Marinesco-Sjögren syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
612
Trials
0
Interventional, condition-specific
Researchers
1,309
Distinct authors in sample
Gene link
SIL1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder characterized by cerebellar , early-onset bilateral cataracts, chronic ; additional features are delayed motor development and variable , hypergonadotrophic hypogonadism and delayed puberty, and short stature.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009567
- OMIM:248800
- UMLS:C0024814
Additional Mondo synonyms (2)
Marinesco-Sjogren syndrome · Marshall Smith 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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SIL1
- LiteraturePresent
612 matched papers (270 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (SIL1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
612
612 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=5449) is 41.
612 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
270 in the last 10 years · low confidence
Phrase hits: 612 · MeSH hits: 0
Who's working on it?
1,309
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Roos A15 papers · 2025
Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany.
Papers in Europe PMC - 02Sallese M11 papers · 2026
Department of Medical, Oral and Biotechnological Sciences, University G. d'Annunzio, Chieti 66100, Italy; CeSI-MeT, Centre for Research on Ageing and Translational Medicine, University G. d'Annunzio, Chieti 66100, Italy. Electronic address: michele.sallese@unich.it.
Papers in Europe PMC - 03Weis J10 papers · 2019
Institute of Neuropathology, University Hospital RWTH Aachen, Aachen, Germany.
Papers in Europe PMC - 04Buchkremer S7 papers · 2019
Institute of Neuropathology, University Hospital RWTH Aachen, Aachen, Germany.
Papers in Europe PMC - 05Chiesa R7 papers · 2025
Department of Neuroscience, IRCCS - Mario Negri Institute for Pharmacological Research, Via G. La Masa 19, 20156 Milan, Italy.
Papers in Europe PMC - 06Federici L6 papers · 2026
Department of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
Papers in Europe PMC - 07Hendershot LM6 papers · 2024
Department of Tumor Cell Biology, St. Jude Children's Research Hospital, Memphis, TN 30105.
Papers in Europe PMC - 08Potenza F6 papers · 2026
Department of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.
Papers in Europe PMC - 09Restelli E6 papers · 2025
Department of Neuroscience, IRCCS - Mario Negri Institute for Pharmacological Research, Via G. La Masa 19, 20156 Milan, Italy.
Papers in Europe PMC - 10Anttonen AK5 papers · 2013
Folkhälsan Institute of Genetics and Neuroscience Center, University of Helsinki, PO Box 63, FI-00014 Helsinki, Finland.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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 on the overview but are not added to the query string.
"Marinesco-Sjögren syndrome" OR "Marinesco-Sjogren syndrome" OR "Marshall Smith Syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Marinesco-Sjögren syndrome" OR "Marinesco-Sjogren syndrome" OR "Marshall Smith Syndrome" OR "SIL1"
Recall-expansion terms: SIL1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (612) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T14:20:12.004Z