Neuralgic amyotrophy

Summary

Neuralgic amyotrophy (MONDO:0017362) is a disease with 1 cohort gene and 2 clinical trials.

At a glance

• Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
• Cohort genes: 1
• ClinVar variants: 1
• Phenotypes (HPO): 24
• Clinical trials: 2

Clinical features

Epidemiology

Prevalence records

4 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-5 / 10 000		Europe	Validated
Annual incidence	1-9 / 100 000	1.64	United States	Validated
Annual incidence	1-9 / 100 000	3	United Kingdom	Validated
Lifetime Prevalence	1-5 / 10 000	30	United Kingdom	Validated

Signs & symptoms

Clinical features (HPO)

24 HPO clinical features (Orphanet curated; top 24 by frequency):

HPO ID	Term	Frequency
HP:0001271	Polyneuropathy	Very frequent (80-99%)
HP:0002829	Arthralgia	Very frequent (80-99%)
HP:0003457	EMG abnormality	Very frequent (80-99%)
HP:0003484	Upper limb muscle weakness	Very frequent (80-99%)
HP:0009129	Upper limb amyotrophy	Very frequent (80-99%)
HP:0012513	Upper limb pain	Very frequent (80-99%)
HP:0000912	Sprengel anomaly	Frequent (30-79%)
HP:0003401	Paresthesia	Frequent (30-79%)
HP:0003691	Scapular winging	Frequent (30-79%)
HP:0000160	Narrow mouth	Occasional (5-29%)
HP:0000175	Cleft palate	Occasional (5-29%)
HP:0000193	Bifid uvula	Occasional (5-29%)
HP:0000286	Epicanthus	Occasional (5-29%)
HP:0000311	Round face	Occasional (5-29%)
HP:0001063	Acrocyanosis	Occasional (5-29%)
HP:0001159	Syndactyly	Occasional (5-29%)
HP:0002093	Respiratory insufficiency	Occasional (5-29%)
HP:0002167	Abnormality of speech or vocalization	Occasional (5-29%)
HP:0002360	Sleep abnormality	Occasional (5-29%)
HP:0004322	Short stature	Occasional (5-29%)
HP:0005989	Redundant neck skin	Occasional (5-29%)
HP:0009830	Peripheral neuropathy	Occasional (5-29%)
HP:0012745	Short palpebral fissure	Occasional (5-29%)
HP:0033748	Hypoesthesia	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	neuralgic amyotrophy
Mondo ID	MONDO:0017362
Orphanet	2901
ICD-10-CM	G54.5
ICD-11	302246011
UMLS	C1510479
MedGen	307145
GARD	0004228
MedDRA	10063020
NORD	1560
Is cancer (heuristic)	no

Also known as: acute brachial plexus neuritis · brachial plexus neuritis · immune brachial plexus neuropathy · mononeuritis multiplex with brachial predilection · neuralgic shoulder amyotrophy · Parsonage Turner Syndrome

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › peripheral nervous system disorder › peripheral neuropathy › acquired peripheral neuropathy › neuralgic amyotrophy

Related subtypes (11): axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy, cranial neuralgia, POEMS syndrome, non-recovering obstetric brachial plexus lesion, anterior cutaneous nerve entrapment syndrome, pudendal neuralgia, polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG, multifocal motor neuropathy, CANOMAD syndrome, simple cryoglobulinemia, radiation-induced plexopathy

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

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
1335298	NM_001113491.2(SEPTIN9):c.722-6465C>T	SEPTIN9	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

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
SEPTIN9	Orphanet:2901	Neuralgic amyotrophy

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SEPTIN9	HGNC:7323	ENSG00000184640	Q9UHD8	Septin-9	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SEPTIN9	Septin-9	Filament-forming cytoskeletal GTPase.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SEPTIN9	Other/Unknown	no		Septin, P-loop_NTPase, G_SEPTIN_dom

Expression context

Cohort genes with no expression data: 0.

1 cohort gene 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)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
granulocyte	1
ileal mucosa	1
thymus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SEPTIN9	293	ubiquitous	marker	ileal mucosa, granulocyte, thymus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SEPTIN9	2,119

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SEPTIN9	Q9UHD8	3

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
septin cytoskeleton organization	1	4213.0×	0.001	SEPTIN9
positive regulation of non-motile cilium assembly	1	1872.4×	0.001	SEPTIN9
cytoskeleton-dependent cytokinesis	1	802.5×	0.002	SEPTIN9
intracellular protein localization	1	104.7×	0.012	SEPTIN9
actin cytoskeleton organization	1	79.1×	0.013	SEPTIN9

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) 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
SEPTIN9	BARICITINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SEPTIN9	3	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
BARICITINIB	4	SEPTIN9
TANDUTINIB	2	SEPTIN9
UCN-01	2	SEPTIN9

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
SEPTIN9	2	Binding:2

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

3 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)
BARICITINIB	4	SEPTIN9
TANDUTINIB	2	SEPTIN9
UCN-01	2	SEPTIN9

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	SEPTIN9
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	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06740656	Not specified	NOT_YET_RECRUITING	Neuromuscular Complications of MEK Inhibitors: a French Case Series and a Systematic Review of the Literature
NCT03441347	Not specified	COMPLETED	Neuralgic Amyotrophy: Central Reorganization and Rehabilitation After Peripheral Dysfunction