Pediatric extraocular retinoblastoma
diseaseOn this page
Also known as childhood extraocular retinoblastomachildhood metastatic retinoblastomaextraocular retinoblastomaextraocular retinoblastoma of childhood
Summary
Pediatric extraocular retinoblastoma (MONDO:0004350) is a disease and 2 clinical trials. Top therapeutic interventions include cisplatin and thiotepa. A subtype of extraocular retinoblastoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Clinical trials: 2
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | pediatric extraocular retinoblastoma |
| Mondo ID | MONDO:0004350 |
| DOID | DOID:7747 |
| NCIT | C9048 |
| UMLS | C1321870 |
| MedGen | 230837 |
| GARD | 0023951 |
| Is cancer (heuristic) | no |
Also known as: childhood extraocular retinoblastoma · childhood metastatic retinoblastoma · extraocular retinoblastoma · extraocular retinoblastoma of childhood · pediatric extraocular retinoblastoma
Disease family
This is a subtype of extraocular retinoblastoma. 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: neoplastic disease or syndrome › neoplasm › cancer › nervous system cancer › sensory system cancer › ocular cancer › retinal cancer › retinal cell cancer › retinoblastoma › extraocular retinoblastoma › pediatric extraocular retinoblastoma
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: 2.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE3 | 1 |
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00554788 | PHASE3 | COMPLETED | Combination Chemotherapy, Autologous Stem Cell Transplant, and/or Radiation Therapy in Treating Young Patients With Extraocular Retinoblastoma |
| NCT00690469 | Not specified | COMPLETED | Genetic Mutations and Environmental Exposure in Young Patients With Retinoblastoma and in Their Parents and Young Healthy Unrelated Volunteers |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CISPLATIN | 4 | 1 |
| THIOTEPA | 4 | 1 |