Nerve plexus disorder

Summary

Nerve plexus disorder (MONDO:0024432) is a disease with 8 GWAS associations across 17 studies and 2 clinical trials. A subtype of peripheral neuropathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 8
• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	nerve plexus disorder
Mondo ID	MONDO:0024432
EFO	EFO:0009559
DOID	DOID:3688
NCIT	C27744
SNOMED CT	2231001
UMLS	C0270891
MedGen	543047
GARD	0025398
Anatomy (UBERON)	UBERON:0001810
Is cancer (heuristic)	no

Also known as: disease of nerve plexus · disease or disorder of nerve plexus · disorder of nerve plexus · nerve plexus disease · nerve plexus disease or disorder · nerve plexus disorder · plexopathy

Data availability: 8 GWAS associations (17 studies).

Disease family

This is a subtype of peripheral 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 › peripheral nervous system disorder › peripheral neuropathy › nerve plexus disorder

Related subtypes (29): autoimmune neuropathy, autonomic neuropathy, mononeuropathy, ischemic neuropathy, polyneuropathy, neuritis, motor peripheral neuropathy, sensory peripheral neuropathy, uremic neuropathy, nerve compression syndrome, axonal neuropathy, diabetic neuropathy, acquired peripheral neuropathy, hereditary peripheral neuropathy, neuralgia, peripheral nerve lesion, traumatic neuropathy, radiation-induced neuropathy, vasculitic neuropathy, chronic idiopathic neuropathy, chemotherapy-induced neuropathy, infectious neuropathy, vitamin deficiency related neuropathy, paraproteinemia-associated neuropathy, neuropathy in cryoglobulinemia, neuropathy in endocrine disorder, sarcoid neuropathy, neuropathy, small fiber, idiopathic small fibers neuropathy

Subtypes (4): lumbosacral plexus lesion, nerve plexus neoplasm, brachial plexus neuropathy, radiation-induced plexopathy

Genetics & variants

GWAS landscape

8 GWAS associations across 17 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs551454792	7e-14	EYA1	G	3.85
rs186120907	6e-12	SLC17A6-DT	G	4.55
rs567808353	1e-11	SPATA31C2 - RPSAP49	G	3.79
rs565363636	2e-11	RORB	C	2.88
rs958170362	2e-11	RYR2	T	3.94
rs569914203	2e-11	XPO7 - NPM2	C	3.56
rs545197374	3e-11	RDH10-AS1 - STAU2-AS1	G	3.77
rs143538379	2e-09	CD84 - SLAMF1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477596	Verma A	2024	6,110	435,653	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079841	Backman JD	2021	4,336	383,594	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083827	Backman JD	2021	4,336	383,594	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90477595	Verma A	2024	1,946	116,946	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481050	Verma A	2024	1,946	116,946	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477597	Verma A	2024	1,241	448,450	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435949	Zhou W	2018	1,139	394,067	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90477594	Verma A	2024	814	57,796	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079842	Backman JD	2021	662	387,268	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083828	Backman JD	2021	662	387,268	Exome sequencing and analysis of 454,787 UK Biobank participants.

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	8

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	7
unknown	1

Functional consequences

Consequence	Count
intron_variant	4
intergenic_variant	4

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs551454792	8	71581972	G>A,C	0	intron_variant	EYA1	7e-14	Tier 4: intronic/intergenic
rs186120907	11	22296965	G>A,T	0.001	intron_variant	SLC17A6-DT	6e-12	Tier 4: intronic/intergenic
rs567808353	9	88233564	G>A	0.001	intergenic_variant	SPATA31C2 - RPSAP49	1e-11	Tier 4: intronic/intergenic
rs565363636	9	74590130	C>T	0.001	intron_variant	RORB	2e-11	Tier 4: intronic/intergenic
rs958170362	1	237709337	T>A	0	intron_variant	RYR2	2e-11	Tier 4: intronic/intergenic
rs569914203	8	22015705	C>T	0.001	intergenic_variant	XPO7 - NPM2	2e-11	Tier 4: intronic/intergenic
rs545197374	8	73372245	G>A	0	intergenic_variant	RDH10-AS1 - STAU2-AS1	3e-11	Tier 4: intronic/intergenic
rs143538379	1	160600893	G>A		intergenic_variant	CD84 - SLAMF1	2e-09	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
PHASE3	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06071936	PHASE3	UNKNOWN	Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Traumatic or Post-operative Peripheral Neuropathy
NCT06071988	PHASE3	UNKNOWN	Long Term Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Traumatic or Post-operative Peripheral Neuropathy