Sinus histiocytosis with massive lymphadenopathy
diseaseOn this page
Also known as Destombes-RosaC/-Dorfman diseaseDestombes-Rosaï-Dorfman diseaseRDDRosaC/-Dorfman-Destombes diseaseRosai-Dorfman DiseaseRosaï-Dorfman-Destombes diseaseSHML
Summary
Sinus histiocytosis with massive lymphadenopathy (MONDO:0006412) is a disease and 8 clinical trials. Top therapeutic interventions include cobimetinib and mirdametinib. A subtype of non-Langerhans cell histiocytosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 12
- Clinical trials: 8
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 1000 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
12 HPO clinical features (Orphanet curated; top 12 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001903 | Anemia | Very frequent (80-99%) |
| HP:0001945 | Fever | Very frequent (80-99%) |
| HP:0002716 | Lymphadenopathy | Very frequent (80-99%) |
| HP:0002961 | Dysgammaglobulinemia | Very frequent (80-99%) |
| HP:0001250 | Seizure | Occasional (5-29%) |
| HP:0001482 | Subcutaneous nodule | Occasional (5-29%) |
| HP:0002315 | Headache | Occasional (5-29%) |
| HP:0002797 | Osteolysis | Occasional (5-29%) |
| HP:0003401 | Paresthesia | Occasional (5-29%) |
| HP:0010550 | Paraplegia | Occasional (5-29%) |
| HP:0010783 | Erythema | Occasional (5-29%) |
| HP:0200034 | Papule | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | sinus histiocytosis with massive lymphadenopathy |
| Mondo ID | MONDO:0006412 |
| MeSH | D015618 |
| Orphanet | 158014 |
| ICD-11 | 1908538383 |
| NCIT | C36075 |
| SNOMED CT | 34287003 |
| UMLS | C0019625 |
| MedGen | 9266 |
| GARD | 0007588 |
| MedDRA | 10063397 |
| NORD | 1676 |
| Is cancer (heuristic) | no |
Also known as: Destombes-RosaC/-Dorfman disease · Destombes-Rosaï-Dorfman disease · RDD · RosaC/-Dorfman-Destombes disease · Rosai-Dorfman Disease · Rosai-Dorfman disease · Rosaï-Dorfman-Destombes disease · SHML · sinus histiocytosis with massive lymphadenopathy
Disease family
This is a subtype of non-Langerhans cell histiocytosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › immune system disorder › lymphoid system disorder › lymphatic system disorder › histiocytosis › non-Langerhans cell histiocytosis › sinus histiocytosis with massive lymphadenopathy
Related subtypes (14): Niemann-Pick disease, hereditary progressive mucinous histiocytosis, sea-blue histiocyte syndrome, multicentric reticulohistiocytosis, generalized eruptive histiocytosis, benign cephalic histiocytosis, juvenile xanthogranuloma, xanthoma disseminatum, papular xanthoma, necrobiotic xanthogranuloma, indeterminate dendritic cell tumor, progressive nodular histiocytosis, Erdheim-Chester disease, xanthogranuloma
Subtypes (1): H syndrome
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
Drugs indicated for this disease
No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Dexamethasone, Lenalidomide.
Clinical trials & evidence
Clinical trials
Clinical trials: 8.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 4 |
| Not specified | 2 |
| PHASE4 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05284942 | PHASE4 | UNKNOWN | Central China Rosai-Dorfman Disease Registry |
| NCT04079179 | PHASE2 | RECRUITING | Cobimetinib in Refractory Langerhans Cell Histiocytosis (LCH), and Other Histiocytic Disorders |
| NCT06153173 | PHASE2 | RECRUITING | Mirdametinib in Histiocytic Disorders |
| NCT07187167 | PHASE2 | RECRUITING | Efficacy and Safety of the RD Regimen(Lenalidomide, Dexamethasone) for Rosai-Dorfman Disease |
| NCT04924647 | PHASE2 | UNKNOWN | Lenalidomide and Dexamethasone for Rosai-Dorfman Disease |
| NCT05093335 | EARLY_PHASE1 | RECRUITING | In-Human CXCR4 Imaging of Hematologic and Solid Tumors Using [68Ga]-Pentixafor-PET |
| NCT02285582 | Not specified | RECRUITING | International Rare Histiocytic Disorders Registry (IRHDR) |
| NCT05915208 | Not specified | RECRUITING | Histiocytic Disorder Follow-up Study |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| COBIMETINIB | 4 | 1 |
| MIRDAMETINIB | 2 | 1 |
| CHEMBL4538425 | 0 | 1 |
Related Atlas pages
- Drugs: Cobimetinib