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ORPHA:3204

Stormorken-Sjaastad-Langslet syndrome

low confidenceDisorder

Also known as: Stormorken syndrome · Thrombocytopathy-asplenia-miosis syndrome

Publications

8,377

Trials

0

Interventional, condition-specific

Researchers

1,600

Distinct authors in sample

Gene link

STIM1

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — STIM1

  2. LiteraturePresent

    8,377 matched papers (5,724 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Abnormal bleeding; Elevated circulating creatine kinase activity; Increased muscle fatiguability) Source

  4. Animal modelPresent

    3 genotype models (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 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)

38

Associated phenotypes · MONDO:0008497

  • Abnormal bleeding
  • Elevated circulating creatine kinase activity
  • Increased muscle fatiguability
  • Short stature
  • Myopathy

Showing 5 of 38 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

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?

8,377

8,377 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

8,377 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).

5,724 in the last 10 years · low confidence

Phrase hits: 203 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Böhm J20 papers · 2026

    IGBMC, Inserm U1258, Cnrs UMR7104, Université de Strasbourg, 1 Rue Laurent Fries, Illkirch, 67404, France.

    Papers in Europe PMC
  2. 02
    Laporte 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
  3. 03
    Fahrner 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
  4. 04
    Maggi L13 papers · 2022

    Neuroimmunology and Neuromuscular Disease Unit, Foundation IRCCS Carlo Besta Neurological Institute , Milano, Italy

    Papers in Europe PMC
  5. 05
    Romanin 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
  6. 06
    Santorelli F10 papers · 2022

    Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris , Pisa, Italy

    Papers in Europe PMC
  7. 07
    Bruno C9 papers · 2022

    Centre of Translational and Experimental Myology

    Papers in Europe PMC
  8. 08
    Mongini T9 papers · 2022

    Department of Neurosciences Rita Levi Montalcini, Università degli Studi di Torino , Torino, Piemonte, Italy

    Papers in Europe PMC
  9. 09
    Bertini E8 papers · 2025

    Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children’s Hospital, IRCCS , Rome, Italy

    Papers in Europe PMC
  10. 10
    Comi 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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 2026-07-29

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 Stormorken-Sjaastad-Langslet 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.

("Stormorken-Sjaastad-Langslet syndrome" OR "Stormorken syndrome" OR "Thrombocytopathy-asplenia-miosis syndrome") OR ("STIM1" OR "STIM1 syndrome" OR "STIM1-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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 (8377) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T22:29:17.266Z