ORPHA:192
Coffin-Lowry syndrome
Also known as: CLS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
743
83.8th percentile
Trials
1
Interventional, condition-specific
Researchers
1,350
Distinct authors in sample
Gene link
RPS6KA3
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010561
- MeSH:C536435
- MeSH:D038921
- OMIM:303600
- UMLS:C0265252
- NCIT:C84643
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — RPS6KA3
- LiteraturePresent
743 matched papers (280 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 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)
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?
743
743 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.
743 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).
280 in the last 10 years · medium confidence · 83.8th percentile (publications denominator)
Phrase hits: 743 · MeSH hits: 0
Who's working on it?
1,350
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.
- 01Hanauer A13 papers · 2018
Institute of Genetics and Molecular and Cellular Biology (IGBMC), Centre National de la Recherche Scientifique (UMR 7104), Institut National de la Santé et de la Recherche Médicale (U 964), University of Strasbourg, Illkirch, France.
Papers in Europe PMC - 02Pannetier S6 papers · 2014
Institute of Genetics and Molecular and Cellular Biology (IGBMC), Centre National de la Recherche Scientifique (UMR 7104), Institut National de la Santé et de la Recherche Médicale (U 964), University of Strasbourg, Illkirch, France.
Papers in Europe PMC - 03Byrne JH4 papers · 2022
Department of Neurobiology and Anatomy, W.M. Keck Center for the Neurobiology of Learning and Memory, McGovern Medical School, The University of Texas Health Center At Houston, 6431 Fannin Street, Suite MSB 7.046, Houston, TX, 77030, USA. John.H.Byrne@uth.tmc.edu.
Papers in Europe PMC - 04Cleary LJ4 papers · 2022
Department of Neurobiology and Anatomy, W.M. Keck Center for the Neurobiology of Learning and Memory, McGovern Medical School, The University of Texas Health Center At Houston, 6431 Fannin Street, Suite MSB 7.046, Houston, TX, 77030, USA.
Papers in Europe PMC - 05Schneider 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 - 06Wu 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 - 07Zhang Y4 papers · 2022
Department of Neurobiology and Anatomy, W.M. Keck Center for the Neurobiology of Learning and Memory, McGovern Medical School, The University of Texas Health Center At Houston, 6431 Fannin Street, Suite MSB 7.046, Houston, TX, 77030, USA.
Papers in Europe PMC - 08Amling M3 papers · 2025
Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, Hamburg, Germany.
Papers in Europe PMC - 09Ammar MR3 papers · 2013
Institut des Neurosciences Cellulaires et Intégratives, Centre National de la Recherche Scientifique UPR-3212, Université de Strasbourg, 67084 Strasbourg, France, Institut Interdisciplinaire de Neuroscience, Centre National de la Recherche Scientifique UMR-5297, Université de Bordeaux, 33077 Bordeaux Cedex, France, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, UMR-7104/U964 Université de Strasbourg, 67404 Illkirch Cedex, France, and University Hospital and Rudolf Virchow Center, Deutsche Forschungsgemeinschaft Research Center for Experimental Biomedicine, 97080 Würzburg, Germany.
Papers in Europe PMC - 10Ceylaner S3 papers · 2015
Department of Molecular Biology and Genetics, Intergen Genetics Center, Ankara, Turkey.
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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th 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.
- 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.
"Coffin-Lowry syndrome" OR "Coffin Lowry Syndrome" OR "Coffin-Lowry syndrome, X-linked dominant"
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" OR "RPS6KA3"
Recall-expansion terms: RPS6KA3
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: suspect — strategies attempted: phrase, recall-expansion; 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