ORPHA:83472
CAMOS syndrome
Also known as: Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome · SCAR5
Publications
99
62.4th percentile
Trials
0
Interventional, condition-specific
Researchers
666
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A disorder that is characterised by the association of a non- , severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is .
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:0019374
- OMIM:606937
- UMLS:C4511633
Additional Mondo synonyms (1)
cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities 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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
99 matched papers (79 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
99
99 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.
99 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).
79 in the last 10 years · medium confidence · 62.4th percentile (publications denominator)
Phrase hits: 99 · MeSH hits: 0
Who's working on it?
666
Distinct author names in 99 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.
- 01Delague V3 papers · 2015
2 Inserm, UMR_S 910, 13385, Marseille, France 3 Aix Marseille Université, GMGF, 13385, Marseille, France grace.yoon@utoronto.ca valerie.delague@univ-amu.fr.
Papers in Europe PMC - 02Liu J3 papers · 2026
Department of Cell and Molecular Physiology, University of Massachusetts Medical School, Worcester, Massachusetts, United States of America.
Papers in Europe PMC - 03Mégarbané A3 papers · 2015
18 Unité de Génétique Médicale and Laboratoire Associé Inserm UMR S_910, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon 19 Institut Jérôme Lejeune, Paris, France.
Papers in Europe PMC - 04Wolf Y3 papers · 2025
The Plastic and Reconstructive Surgery Unit, Surgical Division, Hillel-Yaffe Medical Center, Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Papers in Europe PMC - 05Assoum M2 papers · 2015
2 Inserm, UMR_S 910, 13385, Marseille, France 3 Aix Marseille Université, GMGF, 13385, Marseille, France.
Papers in Europe PMC - 06Batista AA2 papers · 2018
Department of Chemistry, Universidade Federal de São Carlos, São Carlos, Brazil.
Papers in Europe PMC - 07Bian C2 papers · 2018
Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences/Key Laboratory of Biology and Genetic Improvement of Tuber and Root Crop, Ministry of Agriculture and Rural Affair, Beijing 100081, China. bianchunsong@caas.cn.
Papers in Europe PMC - 08Chen H2 papers · 2026
Department of Biochemistry, School of Life Sciences & the State Key Laboratory of Medical Genetics, Central South University, Changsha 410013, China. chenhanchun@csu.edu.cn.
Papers in Europe PMC - 09Chen Q2 papers · 2020
Department of Ophthalmology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, 210000, People's Republic of China. chenkmu@163.com.
Papers in Europe PMC - 10Cheng J2 papers · 2017
Research Center for Preclinical Medicine, Sichuan Medical University, Luzhou 646000, China. jingliangc@scmu.edu.cn.
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.
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.
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.
"CAMOS syndrome" OR "Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome" OR "SCAR5"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CAMOS syndrome" OR "Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome" OR "SCAR5"
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:37:59.094Z