Hemangioblastoma

Summary

Hemangioblastoma (MONDO:0016748) is a disease and 8 clinical trials. Top therapeutic interventions include sunitinib. A subtype of nervous system benign neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 16
• Clinical trials: 8

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 1 000 000	0.14	Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

16 HPO clinical features (Orphanet curated; top 16 by frequency):

HPO ID	Term	Frequency
HP:0010797	Hemangioblastoma	Obligate (100%)
HP:0002017	Nausea and vomiting	Very frequent (80-99%)
HP:0002315	Headache	Very frequent (80-99%)
HP:0002321	Vertigo	Very frequent (80-99%)
HP:0006880	Cerebellar hemangioblastoma	Very frequent (80-99%)
HP:0009711	Retinal capillary hemangioma	Very frequent (80-99%)
HP:0010576	Intracranial cystic lesion	Very frequent (80-99%)
HP:0030915	Cerebellar edema	Very frequent (80-99%)
HP:0000011	Neurogenic bladder	Frequent (30-79%)
HP:0003484	Upper limb muscle weakness	Frequent (30-79%)
HP:0007340	Lower limb muscle weakness	Frequent (30-79%)
HP:0009713	Spinal hemangioblastoma	Frequent (30-79%)
HP:0012534	Dysesthesia	Frequent (30-79%)
HP:0030144	Hypoactive bowel sounds	Frequent (30-79%)
HP:0100661	Trigeminal neuralgia	Frequent (30-79%)
HP:0000238	Hydrocephalus	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	hemangioblastoma
Mondo ID	MONDO:0016748
MeSH	D018325
Orphanet	252054
DOID	DOID:5241
NCIT	C3801
UMLS	C0206734
MedGen	104929
GARD	0008232
MedDRA	10018813
Is cancer (heuristic)	no

Also known as: angioblastoma · capillary hemangioblastoma · hemangioblastoma · HMBL

Disease family

This is a subtype of nervous system benign neoplasm. 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 etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › nervous system benign neoplasm › hemangioblastoma

Related subtypes (4): central nervous system organ benign neoplasm, sensory organ benign neoplasm, neurocutaneous melanocytosis, phakomatosis pigmentokeratotica

Subtypes (3): retinal hemangioblastoma, cerebellar hemangioblastoma, brain stem hemangioblastoma

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 or in trials for this disease

1 approved drug — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Status
Belzutifan	Approved (phase 4)

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	3
Not specified	3
PHASE4	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04081701	PHASE4	RECRUITING	68-Ga DOTATATE PET/MRI in the Diagnosis and Management of Somatostatin Receptor Positive CNS Tumors.
NCT06638931	PHASE2	RECRUITING	Agnostic Therapy in Rare Solid Tumors
NCT00330564	PHASE2	TERMINATED	Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to Follow
NCT00589784	PHASE2	COMPLETED	Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma
NCT01015300	EARLY_PHASE1	TERMINATED	Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblastoma From Von-Hippel-Lindau Disease
NCT00005902	Not specified	ACTIVE_NOT_RECRUITING	Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease
NCT05259605	Not specified	RECRUITING	Observational Study for Assessing Treatment and Outcome of Patients With Primary Brain Tumours Using cIMPACT-NOW and 2021 WHO Classification
NCT00970970	Not specified	COMPLETED	Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SUNITINIB	4	2
CHEMBL275117	0	1
CHEMBL4517714	0	1
CHEMBL5405436	0	1