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ORPHA:192

Coffin-Lowry syndrome

medium confidenceDisorder

Also known as: CLS

Publications

2,230

89.1th percentile

Trials

1

Interventional, condition-specific

Researchers

1,374

Distinct authors in sample

Gene link

RPS6KA3

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare X-linked syndromic characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. ranges from mild to severe.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Coffin Lowry Syndrome · Coffin-Lowry syndrome, X-linked dominant

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 — RPS6KA3

  2. LiteraturePresent

    2,230 matched papers (1,376 in last 10 years) Source

  3. Phenotype characterisedPresent

    147 HPO annotations (e.g. Joint hypermobility; Thick lower lip vermilion; Open mouth) Source

  4. Animal modelPresent

    7 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 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 (RPS6KA3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

147

Associated phenotypes · MONDO:0010561

  • Joint hypermobility
  • Thick lower lip vermilion
  • Open mouth
  • Everted lower lip vermilion
  • Coarse facial features

Showing 5 of 147 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

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?

2,230

2,230 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.

2,230 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).

1,376 in the last 10 years · medium confidence · 89.1th percentile (publications denominator)

Phrase hits: 743 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,374

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
    Hanauer A11 papers · 2018

    Institute of Genetics and Molecular and Cellular Biology (IGBMC), CNRS/INSERM/University of Strasbourg, 67404 Illkirch, France.

    Papers in Europe PMC
  2. 02
    Li X5 papers · 2026

    Jiangsu Food and Pharmaceutical Science College, Huaian, Jiangsu 223023, China.

    Papers in Europe PMC
  3. 03
    Pannetier S5 papers · 2013
    Papers in Europe PMC
  4. 04
    Cho YY4 papers · 2026

    BK21 PLUS Team for Creative Leader Program for Pharmacomics-based Future Pharmacy, Integrated Research Institute of Pharmaceutical Sciences, College of Pharmacy, The Catholic University of Korea, 43, Jibong-ro, Wonmi-gu, Bucheon-si, Gyeonggi-do 420-743, Korea.

    Papers in Europe PMC
  5. 05
    Marques Pereira P4 papers · 2011

    Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, B.P. 10142, 67404, Illkirch Cedex, C.U. de Strasbourg, France.

    Papers in Europe PMC
  6. 06
    Poirier R4 papers · 2024

    Institut des Neurosciences Paris-Saclay, Université Paris-Saclay, CNRS, Saclay, France.

    Papers in Europe PMC
  7. 07
    Schneider A4 papers · 2013

    Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.

    Papers in Europe PMC
  8. 08
    Wu J4 papers · 2026

    BK21-Four, College of Pharmacy, The Catholic University of Korea, 43, Jibong-ro, Wonmi-gu, Bucheon-si, Gyeonggi-do, 14662, Korea.

    Papers in Europe PMC
  9. 09
    Zhang L4 papers · 2026

    Department of Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

    Papers in Europe PMC
  10. 10
    Amling M3 papers · 2025

    Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

    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 11 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.

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.

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 Coffin-Lowry 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.

("Coffin-Lowry syndrome" OR "Coffin Lowry Syndrome" OR "Coffin-Lowry syndrome, X-linked dominant") OR ("RPS6KA3" OR "RPS6KA3 syndrome" OR "RPS6KA3-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Coffin-Lowry syndrome" OR "Coffin Lowry Syndrome" OR "Coffin-Lowry syndrome, X-linked dominant"

Interventional trials matched via: phrase (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; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CLS

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 2026-07-26T12:51:19.245Z