Vestibular neuronitis

Summary

Vestibular neuronitis (MONDO:0006008) is a disease with 5 cohort genes (4 GWAS associations across 1 studies) and 7 clinical trials. Top therapeutic interventions include prednisolone.

At a glance

• Cohort genes: 5
• GWAS associations: 4
• Clinical trials: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	vestibular neuronitis
Mondo ID	MONDO:0006008
EFO	EFO:0007537
MeSH	D020338
DOID	DOID:12683
ICD-10-CM	H81.2
SNOMED CT	186738001
UMLS	C0751908
MedGen	155655
GARD	0024271
Is cancer (heuristic)	no

Data availability: 4 GWAS associations (1 study).

Disease family

Classification path: disease › human disease › disease by body system or component › auditory system disorder › retrocochlear disease › vestibulocochlear nerve disorder › vestibular neuronitis

Related subtypes (1): vestibulocochlear nerve neoplasm

Genetics & variants

GWAS landscape

4 GWAS associations across 1 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs74835610	8e-11	RNU6-755P - LMX1A	?	7.46
rs188172955	1e-09	ARL6IP1P2 - ANKRD30A	A	5.7
rs186544372	2e-09	RNU7-197P - LINC02355	A	6.36
rs1499428	4e-08	SLC30A8 - MED30	?	2.49

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST006275	Rujescu D	2018	131	2,609	Genome-Wide Association Study in Vestibular Neuritis: Involvement of the Host Factor for HSV-1 Replication.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	4

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	3
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	3
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs74835610	1	165171177	T>G	0.015	intergenic_variant	RNU6-755P - LMX1A	8e-11	Tier 4: intronic/intergenic
rs188172955	10	37047661	G>A	0.017	intron_variant	ARL6IP1P2 - ANKRD30A	1e-09	Tier 4: intronic/intergenic
rs186544372	4	148995525	T>A	0.015	intron_variant	RNU7-197P - LINC02355	2e-09	Tier 4: intronic/intergenic
rs1499428	8	117287936	C>G	0.138	intron_variant	SLC30A8 - MED30	4e-08	Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
NR3C2	Orphanet:171871	Renal pseudohypoaldosteronism type 1

Cohort genes → proteins

5 cohort genes, 5 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	5

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ANKRD30A	HGNC:17234	ENSG00000148513	Q9BXX3	Ankyrin repeat domain-containing protein 30A	gwas
SLC30A8	HGNC:20303	ENSG00000164756	Q8IWU4	Proton-coupled zinc antiporter SLC30A8	gwas
MED30	HGNC:23032	ENSG00000164758	Q96HR3	Mediator of RNA polymerase II transcription subunit 30	gwas
LMX1A	HGNC:6653	ENSG00000162761	Q8TE12	LIM homeobox transcription factor 1-alpha	gwas
NR3C2	HGNC:7979	ENSG00000151623	P08235	Mineralocorticoid receptor	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SLC30A8	Proton-coupled zinc antiporter SLC30A8	Proton-coupled zinc ion antiporter mediating the entry of zinc into the lumen of pancreatic beta cell secretory granules, thereby regulating insulin secretion.
MED30	Mediator of RNA polymerase II transcription subunit 30	Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes.
LMX1A	LIM homeobox transcription factor 1-alpha	Acts as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter.
NR3C2	Mineralocorticoid receptor	Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol.

Protein-family classification

Druggable: 1 · Difficult: 2 · Unknown: 2 · Druggable fraction: 0.2

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Nuclear receptor	1	77.2×	0.052
Scaffold/PPI	1	3.5×	0.515
Transcription factor	1	1.6×	0.634
Other/Unknown	2	0.7×	0.877

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ANKRD30A	Scaffold/PPI	no		Ankyrin_rpt, Ankyrin_rpt-contain_sf, CC144C-like_CC_dom
SLC30A8	Other/Unknown	no		Cation_efflux, Cation_efflux_TMD_sf, Cation_efflux_CTD
MED30	Other/Unknown	no		Mediator_Med30_met
LMX1A	Transcription factor	no		HD, Znf_LIM, Homeodomain-like_sf
NR3C2	Nuclear receptor	yes		Nucl_hrmn_rcpt_lig-bd, Znf_hrmn_rcpt, Znf_NHR/GATA

Expression context

Cohort genes with no expression data: 0.

4 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	5
unknown	0

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	2
epithelium of mammary gland	1
mammary duct	1
epithelial cell of pancreas	1
islet of Langerhans	1
pancreas	1
bone marrow	1
oocyte	1
secondary oocyte	1
apex of heart	1
sperm	1
colonic mucosa	1
endothelial cell	1
mucosa of sigmoid colon	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ANKRD30A	69	tissue_specific	marker	epithelium of mammary gland, mammary duct, male germ line stem cell (sensu Vertebrata) in testis
SLC30A8	117	tissue_specific	marker	islet of Langerhans, pancreas, epithelial cell of pancreas
MED30	255	ubiquitous	marker	oocyte, secondary oocyte, bone marrow
LMX1A	92	tissue_specific	yes	male germ line stem cell (sensu Vertebrata) in testis, sperm, apex of heart
NR3C2	277	broad	marker	endothelial cell, colonic mucosa, mucosa of sigmoid colon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NR3C2	2,188
SLC30A8	1,707
ANKRD30A	1,672
MED30	1,509
LMX1A	1,202

Structural data

PDB: 5 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
NR3C2	P08235	30
MED30	Q96HR3	11
SLC30A8	Q8IWU4	3
LMX1A	Q8TE12	3
ANKRD30A	Q9BXX3	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 33. Enrichment computed across 5 evidence-associated genes (4 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Zinc efflux and compartmentalization by the SLC30 family	1	571.0×	0.056	SLC30A8
Developmental Lineage of Mammary Gland Alveolar Cells	1	158.6×	0.056	ANKRD30A
Insulin processing	1	114.2×	0.056	SLC30A8
Developmental Lineage of Mammary Gland Luminal Epithelial Cells	1	114.2×	0.056	ANKRD30A
SUMOylation of intracellular receptors	1	84.0×	0.056	NR3C2
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	1	53.9×	0.056	MED30
Nuclear Receptor transcription pathway	1	50.1×	0.056	NR3C2
Epigenetic regulation of gene expression by MLL3 and MLL4 complexes	1	49.2×	0.056	MED30
Respiratory Syncytial Virus Infection Pathway	1	49.2×	0.056	MED30
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	1	48.4×	0.056	NR3C2
SUMO E3 ligases SUMOylate target proteins	1	44.6×	0.056	NR3C2
SUMOylation	1	40.8×	0.056	NR3C2
RSV-host interactions	1	39.1×	0.056	MED30
Adipogenesis	1	39.1×	0.056	MED30
Epigenetic regulation by WDR5-containing histone modifying complexes	1	38.6×	0.056	MED30
Regulation of lipid metabolism by PPARalpha	1	35.2×	0.058	MED30
Transcriptional regulation of white adipocyte differentiation	1	32.4×	0.059	MED30
PPARA activates gene expression	1	23.6×	0.076	MED30
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis	1	20.7×	0.082	MED30
Epigenetic regulation of gene expression	1	17.8×	0.091	MED30
Cellular responses to stress	1	9.2×	0.164	NR3C2
Metabolism of lipids	1	7.9×	0.170	MED30
Cellular responses to stimuli	1	7.9×	0.170	NR3C2
Viral Infection Pathways	1	7.7×	0.170	MED30
Infectious disease	1	6.2×	0.200	MED30
RNA Polymerase II Transcription	1	5.6×	0.211	MED30
Post-translational protein modification	1	4.8×	0.236	NR3C2
Gene expression (Transcription)	1	4.5×	0.243	MED30
Generic Transcription Pathway	1	3.8×	0.273	MED30
Developmental Biology	1	3.6×	0.274	MED30

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
zinc ion import into organelle	1	842.6×	0.016	SLC30A8
nuclear receptor-mediated steroid hormone signaling pathway	1	526.6×	0.016	NR3C2
olfactory behavior	1	468.1×	0.016	LMX1A
insulin processing	1	421.3×	0.016	SLC30A8
zinc ion import across plasma membrane	1	421.3×	0.016	SLC30A8
zinc ion transport	1	383.0×	0.016	SLC30A8
midbrain dopaminergic neuron differentiation	1	300.9×	0.016	LMX1A
regulation of vesicle-mediated transport	1	280.9×	0.016	SLC30A8
zinc ion transmembrane transport	1	175.5×	0.019	SLC30A8
response to zinc ion	1	156.0×	0.019	SLC30A8
dentate gyrus development	1	156.0×	0.019	LMX1A
dopaminergic neuron differentiation	1	156.0×	0.019	LMX1A
response to type II interferon	1	131.7×	0.020	SLC30A8
response to interleukin-1	1	127.7×	0.020	SLC30A8
intracellular zinc ion homeostasis	1	120.4×	0.020	SLC30A8
insulin secretion	1	108.0×	0.021	SLC30A8
cerebellum development	1	89.6×	0.022	LMX1A
positive regulation of transcription elongation by RNA polymerase II	1	75.2×	0.022	MED30
synapse organization	1	70.2×	0.022	LMX1A
negative regulation of neuron differentiation	1	68.0×	0.022	LMX1A
RNA polymerase II preinitiation complex assembly	1	68.0×	0.022	MED30
positive regulation of transcription initiation by RNA polymerase II	1	68.0×	0.022	MED30
response to glucose	1	63.8×	0.022	SLC30A8
positive regulation of insulin secretion	1	63.8×	0.022	SLC30A8
positive regulation of non-canonical NF-kappaB signal transduction	1	63.8×	0.022	NR3C2
somatic stem cell population maintenance	1	62.0×	0.022	MED30
regulation of cell growth	1	55.4×	0.024	LMX1A
memory	1	45.8×	0.027	LMX1A
locomotory behavior	1	44.8×	0.027	LMX1A
neuron differentiation	1	25.1×	0.046	LMX1A

Therapeutics

Drugs indicated for this disease

0 approved, 2 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Ginkgo	Phase 3 (in late-stage trials)
Methylprednisolone	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Prednisone.

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 4

Druggability breadth: 1 of 5 evidence-associated genes (20%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
NR3C2	PROGESTERONE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
NR3C2	24	4
ANKRD30A	0	0
SLC30A8	0	0
MED30	0	0
LMX1A	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PROGESTERONE	4	NR3C2
EPLERENONE	4	NR3C2
MIFEPRISTONE	4	NR3C2
PREDNISOLONE	4	NR3C2
BUDESONIDE	4	NR3C2
SPIRONOLACTONE	4	NR3C2
FLUTICASONE PROPIONATE	4	NR3C2
FLUTICASONE FUROATE	4	NR3C2
HYDROCORTISONE BUTYRATE	4	NR3C2
FINERENONE	4	NR3C2
DEXAMETHASONE	4	NR3C2
HYDROCORTISONE	4	NR3C2
MEDROXYPROGESTERONE ACETATE	4	NR3C2
CORTICOSTERONE	3	NR3C2
ASOPRISNIL	3	NR3C2
BALCINRENONE	3	NR3C2
METRIBOLONE	2	NR3C2
ONAPRISTONE	2	NR3C2
MT-3995	2	NR3C2
ALDOSTERONE	2	NR3C2
STANOLONE	2	NR3C2
LY2623091	2	NR3C2
TUROFEXORATE ISOPROPYL	2	NR3C2
PF-03882845	1	NR3C2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
NR3C2	286	Binding:195, Functional:89, ADMET:2

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
NR3C2	286

Pharmacogenomics

Cohort genes with a PharmGKB record: 5; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

23 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
PROGESTERONE	4	NR3C2
EPLERENONE	4	NR3C2
MIFEPRISTONE	4	NR3C2
BUDESONIDE	4	NR3C2
SPIRONOLACTONE	4	NR3C2
FLUTICASONE PROPIONATE	4	NR3C2
FLUTICASONE FUROATE	4	NR3C2
HYDROCORTISONE BUTYRATE	4	NR3C2
FINERENONE	4	NR3C2
DEXAMETHASONE	4	NR3C2
HYDROCORTISONE	4	NR3C2
MEDROXYPROGESTERONE ACETATE	4	NR3C2
CORTICOSTERONE	3	NR3C2
ASOPRISNIL	3	NR3C2
BALCINRENONE	3	NR3C2
METRIBOLONE	2	NR3C2
ONAPRISTONE	2	NR3C2
MT-3995	2	NR3C2
ALDOSTERONE	2	NR3C2
STANOLONE	2	NR3C2
LY2623091	2	NR3C2
TUROFEXORATE ISOPROPYL	2	NR3C2
PF-03882845	1	NR3C2

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	NR3C2
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	4	ANKRD30A, SLC30A8, MED30, LMX1A

Undrugged target profiles

4 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
ANKRD30A	0	—
SLC30A8	0	—
MED30	0	—
LMX1A	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 7.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE4	1
PHASE1/PHASE2	1
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02912182	PHASE4	TERMINATED	Acute Unilateral Vestibulopathy and Corticosteroid Treatment
NCT00032383	PHASE1/PHASE2	COMPLETED	Complementary/Alternative Medicine for Abnormality in the Vestibular (Balance) System
NCT00271791	PHASE2	COMPLETED	Prednisone Treatment for Vestibular Neuronitis
NCT05424302	Not specified	RECRUITING	Effect of Peripheral Vestibular Disease Location on Outcomes Following Home-based Virtual Reality Vestibular Therapy
NCT00411216	Not specified	COMPLETED	Recovery of Visual Acuity in People With Vestibular Deficits
NCT01943955	Not specified	COMPLETED	Home-based Computer Gaming in Vestibular Rehabilitation
NCT02463695	Not specified	TERMINATED	Characterisation of Cortical Vestibular Evoked Potentials (C-VEPs)

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PREDNISOLONE	4	1