Infection-induced acute-onset axonal neuropathy

Summary

Infection-induced acute-onset axonal neuropathy (MONDO:0979881) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	infection-induced acute-onset axonal neuropathy
Mondo ID	MONDO:0979881
OMIM	621333
Is cancer (heuristic)	no

Data availability: 5 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of primarily extrinsic mechanism › post-infectious disorder › infection-induced acute-onset axonal neuropathy

Related subtypes (13): encephalopathy, acute, infection-induced, infective urethral stricture, infectious otitis interna, otitis externa, infected hydrocele, Chagas cardiomyopathy, postinfectious vasculitis, postinfectious encephalitis, post-infectious syndrome, post-bacterial disorder, post-viral disorder, infection-related hemolytic uremic syndrome, infectious neuropathy

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

5 retrieved; paginated sample, class counts are floors:

2 uncertain significance, 2 pathogenic, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2687493	NM_001381865.2(RCC1):c.330G>C (p.Met110Ile)	RCC1	Pathogenic/Likely pathogenic	no assertion criteria provided
4082220	G43S	RCC1	Pathogenic	no assertion criteria provided
4082224	NM_001381865.2(RCC1):c.781G>A (p.Val261Met)	RCC1	Pathogenic	no assertion criteria provided
2687491	NM_001381865.2(RCC1):c.238G>A (p.Val80Met)	RCC1	Uncertain significance	criteria provided, single submitter
2687496	NM_001381865.2(RCC1):c.1195C>T (p.Arg399Cys)	RCC1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

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

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
RCC1	HGNC:1913	ENSG00000180198	P18754	Regulator of chromosome condensation	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RCC1	Regulator of chromosome condensation	Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP, and thereby plays an important role in RAN-mediated functions in nuclear import and mitosis.

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)
RCC1	Other/Unknown	no		Reg_chr_condens, RCC1/BLIP-II, Ran_GTPase-activating

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
left testis	1
right testis	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RCC1	241	ubiquitous	marker	right testis, left testis, ventricular zone

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RCC1	3,432

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
RCC1	P18754	11

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Postmitotic nuclear pore complex (NPC) reformation	1	407.9×	0.003	RCC1
Nuclear import of Rev protein	1	335.9×	0.003	RCC1
Rev-mediated nuclear export of HIV RNA	1	317.2×	0.003	RCC1

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
positive regulation of cell cycle process	1	2808.7×	0.002	RCC1
viral process	1	2407.4×	0.002	RCC1
mitotic nuclear membrane reassembly	1	1685.2×	0.002	RCC1
regulation of mitotic spindle assembly	1	732.7×	0.004	RCC1
regulation of mitotic nuclear division	1	624.1×	0.004	RCC1
spindle assembly	1	443.5×	0.004	RCC1
mitotic spindle organization	1	271.8×	0.006	RCC1
regulation of mitotic cell cycle	1	240.7×	0.006	RCC1
G1/S transition of mitotic cell cycle	1	200.6×	0.006	RCC1
chromosome segregation	1	173.7×	0.006	RCC1
cell division	1	46.2×	0.022	RCC1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · 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).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
RCC1	1	2

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
REBASTINIB	2	RCC1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
RCC1	1	Binding:1

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

1 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)
REBASTINIB	2	RCC1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	1	RCC1
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: 0.