ORPHA:158014
Rosaï-Dorfman disease
Also known as: Sinus histiocytosis with massive lymphadenopathy · Destombes-Rosaï-Dorfman disease · Rosaï-Dorfman-Destombes disease · SHML
Publications
3,237
Trials
6
Interventional, condition-specific
Researchers
1,031
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare non-Langerhans cell histiocytosis characterized by infiltration of lymph nodes or extranodal tissues by non-malignant histiocytes displaying emperipolesis, a non-destructive phagocytosis of lymphocytes or erythrocytes. Most typical presentation is as a massive cervical lymphadenopathy in adolescents and young adults. Most frequent sites of extranodal disease are skin, soft tissue, bones, paranasal sinuses, orbit, salivary glands, and central nervous system. Symptoms are related to mass effect in the affected organs.
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:0006412
- MeSH:D015618
- UMLS:C0019625
- NCIT:C36075
Additional Mondo synonyms (6)
Destombes-RosaC/-Dorfman disease · RDD · RosaC/-Dorfman-Destombes disease · Rosai-Dorfman Disease · Rosai-Dorfman disease · sinus histiocytosis with massive lymphadenopathy
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 identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3,237 matched papers (1,796 in last 10 years) Source
- Phenotype characterisedPresent
112 HPO annotations (e.g. Abnormality of the kidney; Enlarged kidney; Cleft upper lip) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
6 matched on ClinicalTrials.gov (4 recruiting in sample)
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)
112
Associated phenotypes · MONDO:0006412
- Abnormality of the kidney
- Enlarged kidney
- Cleft upper lip
- Gynecomastia
- Hepatosplenomegaly
Showing 5 of 112 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
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
3
Drugs / clinical candidates · MONDO_0006412
- COBIMETINIB·phase 2
- DEXAMETHASONE·phase 2
- LENALIDOMIDE·phase 2
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
3,237
3,237 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.
3,237 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).
1,796 in the last 10 years · low confidence
Phrase hits: 3,235 · MeSH hits: 7
Who's working on it?
1,031
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.
- 01Diamond EL4 papers · 2026
Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Papers in Europe PMC - 02Liu H4 papers · 2026
Division of Pediatric Pulmonology and Immunology, West China Second University Hospital, Sichuan University, Chengdu, China.
Papers in Europe PMC - 03Wang J4 papers · 2026
Department of Radiology, the First Hospital of Jilin University, Changchun, Jilin, China.
Papers in Europe PMC - 04
- 05Goyal G3 papers · 2026
University of Alabama at Birmingham, Birmingham, Alabama, United States.
Papers in Europe PMC - 06Li J3 papers · 2026
Department of Neurology, Huashan Hospital, Fudan University and Institute of Neurology, Fudan University, National Center for Neurological Disorders, Shanghai, China.
Papers in Europe PMC - 07Li L3 papers · 2026
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China; Cosmetics Safety and Efficacy Evaluation Center, West China Hospital, Sichuan University, Chengdu, China; NMPA Key Laboratory for Human Evaluation and Big Data of Cosmetics, Chengdu, China. Electronic address: lilihx_scu@scu.edu.cn.
Papers in Europe PMC - 08Lin X3 papers · 2026
Department of Pathology, First Affiliated Hospital, Guangzhou Medical University, Yanjiang West Road, Guangzhou 510120, China. Electronic address: 815219622@qq.com.
Papers in Europe PMC - 09Liu D3 papers · 2024
Department of Neurosurgery, The Second Affiliated Hospital of Hainan Medical University, Haikou, Hainan, China.
Papers in Europe PMC - 10Liu X3 papers · 2025
Department of Radiology, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China. liuxia_nsmc@163.com.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
6
interventional trials for this specific condition
6 interventional trials matched this specific condition name; 4 currently recruiting in our sample.
Data as of 11 September 2026
6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).
low confidence · 90.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
6 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07187167·RECRUITING·Efficacy and Safety of the RD Regimen(Lenalidomide, Dexamethasone) for Rosai-Dorfman Disease
Not reviewed·Conditions: Rosai-Dorfman Disease·Matched via name phrase
- NCT04079179·RECRUITING·Cobimetinib in Refractory Langerhans Cell Histiocytosis (LCH), and Other Histiocytic Disorders
Not reviewed·Conditions: Langerhan's Cell Histiocytosis · Juvenile Xanthogranuloma · Erdheim-Chester Disease · Rosai Dorfman Disease·Matched via name phrase
- NCT06153173·RECRUITING·Mirdametinib in Histiocytic Disorders
Not reviewed·Conditions: Langerhans Cell Histiocytosis (LCH) · Juvenile Xanthogranuloma (JXG) · Rosai-Dorfman Disease (RDD) · Histiocytic Disorders·Matched via name phrase
- NCT05093335·RECRUITING·In-Human CXCR4 Imaging of Hematologic and Solid Tumors Using [68Ga]-Pentixafor-PET
Not reviewed·Conditions: Non-Hodgkin Lymphoma · Multiple Myeloma · Histiocytic Neoplasms · Erdheim-Chester Disease·Matched via name phrase
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT02285582·RECRUITING·International Rare Histiocytic Disorders Registry (IRHDR)
Not reviewed·Conditions: Rare Histiocytic Disorders (RHDs) · Erdheim-Chester Disease (ECD) · Rosai-Dorfman Disease (RDD) · Xanthogranuloma Family (XG)·Matched via name phrase
- NCT05915208·RECRUITING·Histiocytic Disorder Follow-up Study
Not reviewed·Conditions: Histiocytosis · Langerhans Cell Histiocytosis · Erdheim-Chester Disease · Rosai Dorfman Disease·Matched via name phrase
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 2026-07-30
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 Rosaï-Dorfman disease — check Associations / patient organisations on that page.
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.
"Rosaï-Dorfman disease" OR "Sinus histiocytosis with massive lymphadenopathy" OR "Destombes-Rosaï-Dorfman disease" OR "Rosaï-Dorfman-Destombes disease" OR "Destombes-RosaC/-Dorfman disease" OR "RosaC/-Dorfman-Destombes disease" OR "Rosai-Dorfman Disease"
MeSH descriptor terms unioned into the query: Histiocytosis, Sinus
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Rosaï-Dorfman disease" OR "Sinus histiocytosis with massive lymphadenopathy" OR "Destombes-Rosaï-Dorfman disease" OR "Rosaï-Dorfman-Destombes disease" OR "Destombes-RosaC/-Dorfman disease" OR "RosaC/-Dorfman-Destombes disease" OR "Rosai-Dorfman Disease" OR "Histiocytosis, Sinus"
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: 6 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SHML; RDD
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (3237) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T08:05:21.551Z