Juvenile xanthogranuloma
diseaseOn this page
Also known as JXG
Summary
Juvenile xanthogranuloma (MONDO:0015534) is a disease and 3 clinical trials. Top therapeutic interventions include larotrectinib, selumetinib, and cobimetinib. 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 (Germany) [Orphanet-validated]
- Phenotypes (HPO): 12
- Clinical trials: 3
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.005 | Germany | Validated |
| Point prevalence | <1 / 1 000 000 | 0.0225 | Germany | Validated |
Signs & symptoms
Clinical features (HPO)
12 HPO clinical features (Orphanet curated; top 12 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000498 | Blepharitis | Occasional (5-29%) |
| HP:0000501 | Glaucoma | Occasional (5-29%) |
| HP:0000520 | Proptosis | Occasional (5-29%) |
| HP:0000554 | Uveitis | Occasional (5-29%) |
| HP:0000572 | Visual loss | Occasional (5-29%) |
| HP:0001101 | Iritis | Occasional (5-29%) |
| HP:0002086 | Abnormality of the respiratory system | Occasional (5-29%) |
| HP:0005547 | Myeloproliferative disorder | Occasional (5-29%) |
| HP:0007565 | Multiple cafe-au-lait spots | Occasional (5-29%) |
| HP:0011830 | Abnormal oral mucosa morphology | Occasional (5-29%) |
| HP:0011886 | Hyphema | Occasional (5-29%) |
| HP:0200064 | Asymmetry of iris pigmentation | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | juvenile xanthogranuloma |
| Mondo ID | MONDO:0015534 |
| EFO | EFO:1000311 |
| MeSH | D014972 |
| Orphanet | 158000 |
| DOID | DOID:4424 |
| ICD-11 | 98595592 |
| NCIT | C3451 |
| SNOMED CT | 400204000 |
| UMLS | C0043324 |
| MedGen | 12179 |
| GARD | 0020020 |
| Is cancer (heuristic) | no |
Also known as: juvenile xanthogranuloma · JXG
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 › juvenile xanthogranuloma
Related subtypes (14): Niemann-Pick disease, sinus histiocytosis with massive lymphadenopathy, hereditary progressive mucinous histiocytosis, sea-blue histiocyte syndrome, multicentric reticulohistiocytosis, generalized eruptive histiocytosis, benign cephalic histiocytosis, xanthoma disseminatum, papular xanthoma, necrobiotic xanthogranuloma, indeterminate dendritic cell tumor, progressive nodular histiocytosis, Erdheim-Chester disease, xanthogranuloma
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
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 3.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 3 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03155620 | PHASE2 | ACTIVE_NOT_RECRUITING | Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) |
| NCT04079179 | PHASE2 | RECRUITING | Cobimetinib in Refractory Langerhans Cell Histiocytosis (LCH), and Other Histiocytic Disorders |
| NCT06153173 | PHASE2 | RECRUITING | Mirdametinib in Histiocytic Disorders |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| LAROTRECTINIB | 4 | 2 |
| SELUMETINIB | 4 | 2 |
| COBIMETINIB | 4 | 1 |
| ENSARTINIB | 4 | 1 |
| ERDAFITINIB | 4 | 1 |
| IVOSIDENIB | 4 | 1 |
| SELPERCATINIB | 4 | 1 |
| TAZEMETOSTAT | 4 | 1 |
| VEMURAFENIB | 4 | 1 |
| TIPIFARNIB | 3 | 1 |
| MIRDAMETINIB | 2 | 1 |
| SAMOTOLISIB | 2 | 1 |
| ULIXERTINIB | 2 | 1 |
| CHEMBL3415553 | 0 | 1 |
| CHEMBL365847 | 0 | 1 |
| CHEMBL4209555 | 0 | 1 |
| CHEMBL5398431 | 0 | 1 |
| CHEMBL5430810 | 0 | 1 |
| CHEMBL4538425 | 0 | 1 |
| PLX-4720 | 0 | 1 |