Facial nerve disorder

Summary

Facial nerve disorder (MONDO:0002098) is a disease (an umbrella term covering 9 Mondo subtypes) with 3 GWAS associations across 12 studies and 2 clinical trials. Top therapeutic interventions include prednisolone and salicylic acid. A subtype of cranial nerve neuropathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 9 Mondo subtypes
• GWAS associations: 3
• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	facial nerve disorder
Mondo ID	MONDO:0002098
EFO	EFO:1002051
MeSH	D005155
DOID	DOID:1756
ICD-10-CM	G51
NCIT	C27594
SNOMED CT	422426003
UMLS	C0015464
MedGen	41946
Anatomy (UBERON)	UBERON:0001647
Is cancer (heuristic)	no

Also known as: disease of facial nerve · disease or disorder of facial nerve · disorder of facial nerve · facial nerve disease · facial nerve disease or disorder · facial nerve disorder

Data availability: 3 GWAS associations (12 studies).

Disease family

This is a subtype of cranial nerve neuropathy. 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 body system or component › nervous system disorder › cranial nerve neuropathy › facial nerve disorder

Related subtypes (16): vestibulocochlear nerve disorder, ocular motility disease, hypoglossal nerve disorder, optic nerve disorder, cranial nerve neoplasm, accessory nerve disorder, glossopharyngeal nerve disorder, olfactory nerve disorder, cranial nerve palsy, trigeminal nerve disorder, third cranial nerve disorder, pseudobulbar palsy, trochlear nerve disorder, jaw-winking syndrome, cranial neuralgia, abducens nerve disorder

Subtypes (9): facial neuralgia, geniculate ganglionitis, facial nerve neoplasm, Bell’s palsy, facial hemiatrophy, clonic hemifacial spasm, Melkersson-Rosenthal syndrome, Mobius syndrome, isolated facial myokymia

Genetics & variants

GWAS landscape

3 GWAS associations across 12 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
rs7770034	3e-23	CDC5L - SUPT3H	A	0.21
rs149965971	2e-08	DCTN4 - SMIM3	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475843	Verma A	2024	3,885	444,546	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473336	UK Biobank Whole-Genome Sequencing Consortium	2025	3,477	454,963	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90079839	Backman JD	2021	1,369	385,508	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083825	Backman JD	2021	1,369	385,508	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90477593	Verma A	2024	1,218	119,813	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480031	Verma A	2024	1,218	119,813	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651574	Liu TY	2025	1,146	222,707	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90435948	Zhou W	2018	880	394,067	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90477592	Verma A	2024	872	58,494	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90726794	Kim HI	2026	584	43,442	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.

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	2

MAF distribution

Bucket	Variants
common (>=0.05)	2
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intergenic_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7770034	6	44479267	A>G,T	0.406	intergenic_variant	CDC5L - SUPT3H	3e-23	Tier 4: intronic/intergenic
rs149965971	5	150769640	A>AATTCAATG	0.05	intergenic_variant	DCTN4 - SMIM3	2e-08	Tier 4: intronic/intergenic

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
PHASE4	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03781700	PHASE4	RECRUITING	Evaluation of Cortisone Treatment in Children With Acute Facial Nerve Palsy
NCT01327157	Not specified	COMPLETED	Study of a New Technique to Improve the Symptoms of Orofacial Discomfort in Patients With Peripheral Facial Paralysis

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PREDNISOLONE	4	1
SALICYLIC ACID	4	1