ORPHA:3204
Stormorken-Sjaastad-Langslet syndrome
Also known as: Stormorken syndrome · Thrombocytopathy-asplenia-miosis syndrome
Publications
203
76.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,600
Distinct authors in sample
Gene link
STIM1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an trait.
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:0008497
- MeSH:C566108
- OMIM:185070
- UMLS:C1861451
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
Strong — STIM1
- LiteraturePresent
203 matched papers (176 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 (STIM1).
GenCC classification: Strong.
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?
203
203 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
203 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).
176 in the last 10 years · medium confidence · 76.5th percentile (publications denominator)
Phrase hits: 203 · MeSH hits: 0
Who's working on it?
1,600
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.
- 01Böhm J20 papers · 2026
IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France.
Papers in Europe PMC - 02Laporte J16 papers · 2026
IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France. jocelyn@igbmc.fr.
Papers in Europe PMC - 03Fahrner M13 papers · 2026
From the Life Science Center JKU, Institute of Biophysics, Johannes Kepler University Linz, Gruberstrasse 40, 4020 Linz, Austria.
Papers in Europe PMC - 04Maggi L13 papers · 2022
Neuroimmunology and Neuromuscular Disease Unit, Foundation IRCCS Carlo Besta Neurological Institute , Milano, Italy
Papers in Europe PMC - 05Romanin C12 papers · 2025
Institute of Biophysics, Johannes Kepler University of Linz, Linz, Austria; and christoph.romanin@jku.at isabella.derler@jku.at.
Papers in Europe PMC - 06Santorelli F10 papers · 2022
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris , Pisa, Italy
Papers in Europe PMC - 07
- 08Mongini T9 papers · 2022
Department of Neurosciences Rita Levi Montalcini, Università degli Studi di Torino , Torino, Piemonte, Italy
Papers in Europe PMC - 09Bertini E8 papers · 2025
Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children’s Hospital, IRCCS , Rome, Italy
Papers in Europe PMC - 10Comi G8 papers · 2022
Neuromuscular and Rare Disease Unit, La Fondazione IRCCS Ca’ Granda Ospedale Maggiore di Milano Policlinico , Milano, Italy
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT04978948·RECRUITING·Study of STIM1 Membrane Expression
Conditions: Autoimmune Diseases·Matched via name phrase
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.
"Stormorken-Sjaastad-Langslet syndrome" OR "Stormorken syndrome" OR "Thrombocytopathy-asplenia-miosis syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Stormorken-Sjaastad-Langslet syndrome" OR "Stormorken syndrome" OR "Thrombocytopathy-asplenia-miosis syndrome" OR "STIM1"
Recall-expansion terms: STIM1
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 (203) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T22:29:17.266Z