Ganglioneuroma

Summary

Ganglioneuroma (MONDO:0005033) is a disease and 6 clinical trials. Top therapeutic interventions include bevacizumab and edotreotide gallium ga-68. A subtype of central nervous system primitive neuroectodermal neoplasm — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 16
• Clinical trials: 6

Clinical features

Signs & symptoms

Clinical features (HPO)

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

HPO ID	Term	Frequency
HP:0003005	Ganglioneuroma	Obligate (100%)
HP:0000834	Abnormality of the adrenal glands	Frequent (30-79%)
HP:0005220	Multiple intestinal neurofibromatosis	Frequent (30-79%)
HP:0045026	Abnormality of the mediastinum	Frequent (30-79%)
HP:0200063	Colorectal polyposis	Frequent (30-79%)
HP:0000822	Hypertension	Occasional (5-29%)
HP:0002574	Episodic abdominal pain	Occasional (5-29%)
HP:0004390	Hamartomatous polyposis	Occasional (5-29%)
HP:0005249	Functional intestinal obstruction	Occasional (5-29%)
HP:0100631	Neoplasm of the adrenal gland	Occasional (5-29%)
HP:0000315	Abnormality of the orbital region	Very rare (<1-4%)
HP:0002034	Abnormality of the rectum	Very rare (<1-4%)
HP:0002239	Gastrointestinal hemorrhage	Very rare (<1-4%)
HP:0003330	Abnormal bone structure	Very rare (<1-4%)
HP:0007110	Central hypoventilation	Very rare (<1-4%)
HP:0008775	Abnormal prostate morphology	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	ganglioneuroma
Mondo ID	MONDO:0005033
EFO	EFO:0000500
Orphanet	251992
DOID	DOID:4817
NCIT	C3049
SNOMED CT	116371000119107
UMLS	C0017075
MedGen	6545
GARD	0020731
MedDRA	10017709
Is cancer (heuristic)	no

Also known as: ganglioneuroma · ganglioneuroma (disease) · ganglioneuroma (Schwannian Stroma-dominant) · ganglioneuroma, benign · GN · neural Crest tumor, benign

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of central nervous system primitive neuroectodermal 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 › cancer › nervous system cancer › central nervous system cancer › central nervous system primitive neuroectodermal neoplasm › ganglioneuroma

Related subtypes (7): adult central nervous system primitive neuroectodermal neoplasm, childhood central nervous system primitive neuroectodermal neoplasm, intracranial primitive neuroectodermal tumor, spinal cord neuroblastoma, spinal cord primitive neuroectodermal tumor, ependymoblastoma, central nervous system tumor with bcor internal tandem duplication

Subtypes (1): cutaneous ganglioneuroma

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: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE1	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01999270	PHASE1	COMPLETED	Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors
NCT04040088	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	An Investigational Scan (68Ga-DOTATATE PET/CT) in Diagnosing Pediatric Metastatic Neuroendocrine Tumors
NCT02402244	Not specified	RECRUITING	Project: Every Child for Younger Patients With Cancer
NCT03583528	Not specified	ACTIVE_NOT_RECRUITING	DOTATOC PET/CT for Imaging NET Patients
NCT05192980	Not specified	RECRUITING	SIOPEN BIOPORTAL, An International Registry Linked to a Virtual Biobank for Patients With Peripheral Neuroblastic Tumours
NCT06296732	Not specified	RECRUITING	Abdominal Neuroblastoma Laparoscopic Surgery Risk Factors Stratification

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BEVACIZUMAB	4	1
EDOTREOTIDE GALLIUM GA-68	4	1