Endolymphatic sac tumor

Summary

Endolymphatic sac tumor (MONDO:0006190) is a cancer and 1 clinical trial. Top therapeutic interventions include belzutifan. A subtype of papillary epithelial neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	endolymphatic sac tumor
Mondo ID	MONDO:0006190
EFO	EFO:1000230
NCIT	C67560
SNOMED CT	699817008
UMLS	C2348239
MedGen	389657
Anatomy (UBERON)	UBERON:0002223
Is cancer (heuristic)	yes

Also known as: aggressive papillary tumor of the temporal bone · aggressive papillary tumour of the temporal bone · ELST · endolymphatic sac neoplasm · endolymphatic sac neoplasm (disease) · endolymphatic sac tumor · endolymphatic sac tumor (disease) · endolymphatic sac tumour (disease) · neoplasm of endolymphatic sac · tumor of endolymphatic sac · tumour of endolymphatic sac

Data availability: 1 HPO phenotype.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › epithelial neoplasm › papillary epithelial neoplasm › endolymphatic sac tumor

Related subtypes (8): papilloma, gallbladder papillary neoplasm, papillary adenoma, papillary urothelial neoplasm, ovarian papillary tumor, papillary cystic neoplasm, papillary carcinoma, papillomatosis

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07167329	PHASE2	RECRUITING	Real-World Effectiveness and Pharmacogenetics of Belzutifan in VHL Syndrome: The BELIEVE-VHL Trial

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BELZUTIFAN	4	1