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Guillain-Barre syndrome, familial (AIDP) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Guillain-Barre syndrome, familial

MONDO:0007691

Also known as:AIDPneuropathy, inflammatory demyelinatingpolyneuropathy, inflammatory demyelinating, acute

Overview

A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy.

GeneticsAutosomal dominant · PMP22 (chr 17)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Acute demyelinating polyneuropathy.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Acute demyelinating polyneuropathy

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

PMP22 function has not been fully characterized.

Guillain-Barre syndrome, familial is associated with mutations in the PMP22 gene on chromosome 17.

GeneReviews

Clinical Guidance

More than 26 single PMP22 nucleotide variants have been reported to cause HNPP. It is not clear if there are genotype-phenotype correlations with these variants since each is limited to a few families . Of note, six families with the PMP22 frameshift variant have a typical HNPP phenotype and are also more likely to have an associated clinically evident motor/sensory neuropathy mimicking Charcot-Marie-Tooth neuropathy type 1 (CMT1; see CMT Overview) . A similar phenotype has been described in individuals with other single-nucleotide variants in PMP22 [, , , , ].

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Hereditary neuropathy with liability to pressure palsies (HNPP) should be suspected in individuals with the following clinical findings, electrophysiologic studies, imaging studies, and family history.

Typical clinical findings

Recurrent acute focal sensory and motor neuropathies mainly at entrapment sites
Painless nerve palsy after minor trauma or compression

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Guillain-Barre syndrome, familial. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with hereditary neuropathy with liability to pressure palsies (HNPP), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 2.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 3.

Recommended Surveillance for Individuals with HNPP

System/Concern | Evaluation | Frequency

Neurologic

| Screening neurologic exam focused on muscle atrophy, strength, sensory loss | Annually

Eval for neuropathic pain

Musculoskeletal

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Guillain-Barre syndrome, familial.

300 publications have been identified in PubMed for Guillain-Barre syndrome, familial. Kisho has analyzed 87 by research type. Research spans Review / Meta-Analysis (48%), Epidemiology / Natural History (20%), and Diagnostic / Biomarker (8%).

Research Type	Count	% of Total
Research summaries	42	48%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:139393

GARD

Genetic and Rare Diseases Info Center

GARD:18211

Questions for Your Care Team

→Should I pursue genetic testing for PMP22, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

Guillain-Barre syndrome, familial

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Neurologic

Musculoskeletal

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Acquired Disorders

Neurologic

Musculoskeletal

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Foot examination

Recent Publications

Guillain-Barre syndrome, familial

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Neurologic

Musculoskeletal

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Acquired Disorders

Neurologic

Musculoskeletal

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Foot examination

Recent Publications