ORPHA:3018
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
Also known as: Rambaud-Gallian syndrome · Rambaud-Gallian-Touchard syndrome
Publications
554
Trials
0
Interventional, condition-specific
Researchers
1,173
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare systemic disease characterized by hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.
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:0010177
- MeSH:C564750
- OMIM:277175
- UMLS:C1848590
Additional Mondo synonyms (3)
retinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome · retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome · vascular hyalinosis
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
554 matched papers (300 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?
554
554 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.
554 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).
300 in the last 10 years · low confidence
Phrase hits: 554 · MeSH hits: 0
Who's working on it?
1,173
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.
- 01Li Z5 papers · 2026
Department of Neurosurgery, Renmin Hospital of Wuhan University Wuhan 430060, Hubei, China.
Papers in Europe PMC - 02Wang J5 papers · 2026
Department of Radiology, Tongde Hospital of Zhejiang Province, Hangzhou, Zhejiang, China.
Papers in Europe PMC - 03Zhang Y5 papers · 2026
Department of Anesthesiology, Nanjing First Hospital, Nanjing Medical University, Nanjing, China.
Papers in Europe PMC - 04Li J4 papers · 2026
Department of Nephrology, The First Affiliated Hospital, Sun Yat-sen University, NHC Key Laboratory of Clinical Nephrology (Sun Yat-Sen University) and Guangdong Provincial Key Laboratory of Nephrology, Guangzhou, China.
Papers in Europe PMC - 05Li L4 papers · 2025
Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota, USA.
Papers in Europe PMC - 06Liu X4 papers · 2024
Senior Department of Ophthalmology, The Third Medical Center of PLA General Hospital, Beijing, China.
Papers in Europe PMC - 07Ma L4 papers · 2026
The Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia.
Papers in Europe PMC - 08Stylianou K4 papers · 2024
Department of Nephrology, University Hospital of Heraklion, 71500 Heraklion, Greece.
Papers in Europe PMC - 09Zhu X4 papers · 2025
George and Anne Ryan Institute for Neuroscience, Department of Biomedical and Pharmaceutical Sciences, University of Rhode Island, Kingston, RI 02881, United States.
Papers in Europe PMC - 10Chen J3 papers · 2025
Department of Periodontal, Oral Center of PLA, Affiliated First Hospital, Second Military Medical University, Shanghai, China.
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.
low 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.
"Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome" OR "Rambaud-Gallian syndrome" OR "Rambaud-Gallian-Touchard syndrome" OR "retinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome" OR "vascular hyalinosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome" OR "Rambaud-Gallian syndrome" OR "Rambaud-Gallian-Touchard syndrome" OR "retinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome" OR "vascular hyalinosis"
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 (554) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T22:01:33.662Z