Guillain-Barre syndrome, familial

Summary

Guillain-Barre syndrome, familial (MONDO:0007691) is a disease with 1 cohort gene and 9 clinical trials.

At a glance

• Cohort genes: 1
• ClinVar variants: 11
• Clinical trials: 9

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Guillain-Barre syndrome, familial
Mondo ID	MONDO:0007691
EFO	EFO:0009538
OMIM	139393
SNOMED CT	716723000
UMLS	C4083008
MedGen	901636
GARD	0018211
MedDRA	10057645
Is cancer (heuristic)	no

Also known as: AIDP · GBS · Guillain-Barre syndrome, familial · neuropathy, inflammatory demyelinating · polyneuropathy, inflammatory demyelinating, acute

Data availability: 11 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › autoimmune disorder of the nervous system › autoimmune disorder of peripheral nervous system › Guillain-Barre syndrome › Guillain-Barre syndrome, familial

Related subtypes (10): pharyngeal-cervical-brachial variant of Guillain-Barre syndrome, paraparetic variant of Guillain-Barre syndrome, acute pure sensory neuropathy, autoimmune autonomic ganglionopathy, acute sensory ataxic neuropathy, facial diplegia with paresthesias, acute inflammatory demyelinating polyradiculoneuropathy, acute motor and sensory axonal neuropathy, acute motor axonal neuropathy, polyneuropathy, inflammatory demyelinating, chronic

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

11 retrieved; paginated sample, class counts are floors:

6 uncertain significance, 2 benign/likely benign, 1 pathogenic/likely pathogenic, 1 likely pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
217238	NM_000304.4(PMP22):c.434del (p.Leu145fs)	PMP22	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3896952	NM_000304.4(PMP22):c.201del (p.Thr68fs)	PMP22	Likely pathogenic	criteria provided, single submitter
8431	NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	PMP22	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
188195	NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)	PMP22	Uncertain significance	criteria provided, multiple submitters, no conflicts
462781	NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)	PMP22	Uncertain significance	criteria provided, multiple submitters, no conflicts
531692	NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)	PMP22	Uncertain significance	criteria provided, multiple submitters, no conflicts
586345	NM_000304.4(PMP22):c.362A>G (p.His121Arg)	PMP22	Uncertain significance	criteria provided, single submitter
637422	NM_000304.4(PMP22):c.-134G>A	PMP22	Uncertain significance	criteria provided, single submitter
872649	NM_000304.4(PMP22):c.260T>C (p.Leu87Pro)	PMP22	Uncertain significance	criteria provided, multiple submitters, no conflicts
321862	NM_000304.4(PMP22):c.79-6C>T	PMP22	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
378379	NM_000304.4(PMP22):c.396C>T (p.Tyr132=)	PMP22	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PMP22	Orphanet:101081	Charcot-Marie-Tooth disease type 1A
PMP22	Orphanet:3115	Roussy-Lévy syndrome
PMP22	Orphanet:640	Hereditary neuropathy with liability to pressure palsies
PMP22	Orphanet:64748	Dejerine-Sottas syndrome
PMP22	Orphanet:90658	Charcot-Marie-Tooth disease type 1E
PMP22	Orphanet:98916	Acute inflammatory demyelinating polyradiculoneuropathy

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
PMP22	HGNC:9118	ENSG00000109099	Q01453	Peripheral myelin protein 22	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PMP22	Peripheral myelin protein 22	Might be involved in growth regulation, and in myelinization in the peripheral nervous system.

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)
PMP22	Other/Unknown	no		PMP22, PMP22/EMP/MP20/Claudin, PMP22_EMP_MP20

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
dorsal root ganglion	1
olfactory bulb	1
trigeminal ganglion	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PMP22	294	ubiquitous	marker	olfactory bulb, trigeminal ganglion, dorsal root ganglion

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PMP22	647

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PMP22	Q01453	89.87

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. 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
EGR2 and SOX10-mediated initiation of Schwann cell myelination	1	368.4×	0.003	PMP22

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
myelin assembly	1	1872.4×	0.003	PMP22
bleb assembly	1	1532.0×	0.003	PMP22
peripheral nervous system development	1	581.1×	0.005	PMP22
negative regulation of neuron projection development	1	237.3×	0.008	PMP22
chemical synaptic transmission	1	77.3×	0.021	PMP22
negative regulation of cell population proliferation	1	42.1×	0.032	PMP22
cell differentiation	1	29.1×	0.035	PMP22
apoptotic process	1	28.7×	0.035	PMP22

Therapeutics

Drugs indicated for this disease

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

Drug	Development status
Human Immunoglobulin G	Phase 3 (in late-stage trials)
Riliprubart	Phase 3 (in late-stage trials)
Rituximab	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Batoclimab, Carmustine, Cytarabine, Efgartigimod Alfa, Etoposide, Lipoic Acid, Alpha, Melphalan, Prednisone.

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
PMP22	PROGESTERONE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PMP22	213	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PROGESTERONE	4	PMP22
CLOTRIMAZOLE	4	PMP22
OXAPROZIN	4	PMP22
SALMETEROL XINAFOATE	4	PMP22
AMIODARONE HYDROCHLORIDE	4	PMP22
TRIHEXYPHENIDYL HYDROCHLORIDE	4	PMP22
AMOXAPINE	4	PMP22
RALOXIFENE HYDROCHLORIDE	4	PMP22
IDARUBICIN	4	PMP22
OXYBUTYNIN CHLORIDE	4	PMP22
PINACIDIL ANHYDROUS	4	PMP22
NICARDIPINE HYDROCHLORIDE	4	PMP22
PILOCARPINE HYDROCHLORIDE	4	PMP22
PROTRIPTYLINE HYDROCHLORIDE	4	PMP22
BENZTROPINE MESYLATE	4	PMP22
BUSPIRONE HYDROCHLORIDE	4	PMP22
DOBUTAMINE HYDROCHLORIDE	4	PMP22
PROMAZINE HYDROCHLORIDE	4	PMP22
DICYCLOMINE HYDROCHLORIDE	4	PMP22
GUANFACINE HYDROCHLORIDE	4	PMP22
HYDROCORTISONE SODIUM SUCCINATE	4	PMP22
BROMOCRIPTINE MESYLATE	4	PMP22
DIHYDROERGOTAMINE MESYLATE	4	PMP22
DOXAZOSIN MESYLATE	4	PMP22
CYCLOBENZAPRINE HYDROCHLORIDE	4	PMP22
DEXBROMPHENIRAMINE MALEATE	4	PMP22
CLOMIPRAMINE HYDROCHLORIDE	4	PMP22
CHLORMEZANONE	4	PMP22
PROMETHAZINE HYDROCHLORIDE	4	PMP22
CITALOPRAM HYDROBROMIDE	4	PMP22

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
PMP22	1	Functional: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

30 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	PMP22
CLOTRIMAZOLE	4	PMP22
OXAPROZIN	4	PMP22
SALMETEROL XINAFOATE	4	PMP22
AMIODARONE HYDROCHLORIDE	4	PMP22
TRIHEXYPHENIDYL HYDROCHLORIDE	4	PMP22
AMOXAPINE	4	PMP22
RALOXIFENE HYDROCHLORIDE	4	PMP22
IDARUBICIN	4	PMP22
OXYBUTYNIN CHLORIDE	4	PMP22
PINACIDIL ANHYDROUS	4	PMP22
NICARDIPINE HYDROCHLORIDE	4	PMP22
PILOCARPINE HYDROCHLORIDE	4	PMP22
PROTRIPTYLINE HYDROCHLORIDE	4	PMP22
BENZTROPINE MESYLATE	4	PMP22
BUSPIRONE HYDROCHLORIDE	4	PMP22
DOBUTAMINE HYDROCHLORIDE	4	PMP22
PROMAZINE HYDROCHLORIDE	4	PMP22
DICYCLOMINE HYDROCHLORIDE	4	PMP22
GUANFACINE HYDROCHLORIDE	4	PMP22
HYDROCORTISONE SODIUM SUCCINATE	4	PMP22
BROMOCRIPTINE MESYLATE	4	PMP22
DIHYDROERGOTAMINE MESYLATE	4	PMP22
DOXAZOSIN MESYLATE	4	PMP22
CYCLOBENZAPRINE HYDROCHLORIDE	4	PMP22
DEXBROMPHENIRAMINE MALEATE	4	PMP22
CLOMIPRAMINE HYDROCHLORIDE	4	PMP22
CHLORMEZANONE	4	PMP22
PROMETHAZINE HYDROCHLORIDE	4	PMP22
CITALOPRAM HYDROBROMIDE	4	PMP22

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	PMP22
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: 9.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	9

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04871035	Not specified	RECRUITING	Immunoadsorption Versus Plasma Exchange for Treatment of Guillain-Barré Syndrome (GBS)
NCT01833780	Not specified	UNKNOWN	Effectiveness of Intrapartum Group B Streptococcus (GBS) Polimerase Chain Reaction Reaction (PCR) Screening
NCT02497430	Not specified	COMPLETED	Clinical Evaluation of the ARIES Group B Streptococcus (GBS) Assay
NCT02883270	Not specified	COMPLETED	Effects of Robotic-assisted Gait Training In Non-Ambulatory Patients After Guillain-Barré Syndrome
NCT03008421	Not specified	COMPLETED	Oral Probiotics to Reduce Vaginal Group B Streptococcal Colonization in Late Pregnancy
NCT03064672	Not specified	UNKNOWN	Transcervical Balloon Catheters in GBS Carriers, Is It Safe? A Randomized Controlled Trial
NCT03936816	Not specified	COMPLETED	The Implementation of Real-time PCR - Intrapartum GBS (Group B Streptococcus) Colonization to Reduce Antibiotic Prophylaxis
NCT04116645	Not specified	WITHDRAWN	Time Frame for GBS Screening
NCT04434391	Not specified	COMPLETED	QF-PCR In GBS Diagnosis During Pregnancy