GBS
MCID: GLL037
MIFTS: 38

Guillain-Barre Syndrome, Familial (GBS)

Categories: Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Guillain-Barre Syndrome, Familial

MalaCards integrated aliases for Guillain-Barre Syndrome, Familial:

Name: Guillain-Barre Syndrome, Familial 57 29 6 39
Neuropathy, Inflammatory Demyelinating 57 13
Aidp 57 58
Gbs 57 3
Guillain-Barre Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form 58
Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form 58
Polyneuropathy, Inflammatory Demyelinating, Acute; Aidp 57
Acute Inflammatory Demyelinating Polyradiculoneuropathy 58
Polyneuropathy, Inflammatory Demyelinating, Acute 57
Acute Inflammatory Demyelinating Polyneuropathy 70
Acute Idiopathic Demyelinating Polyneuropathy 58
Polyneuropathy, Inflammatory Demyelinating 6
Inflammatory Demyelinating Polyneuropathy 72
Acute Inflammatory Polyneuropathy 58
Idp 72

Characteristics:

Orphanet epidemiological data:

58
acute inflammatory demyelinating polyradiculoneuropathy
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
? autosomal dominant form


HPO:

31
guillain-barre syndrome, familial:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 139393
ICD10 via Orphanet 33 G61.0
UMLS via Orphanet 71 C1963929
Orphanet 58 ORPHA98916
SNOMED-CT via HPO 68 263681008
UMLS 70 C3542501

Summaries for Guillain-Barre Syndrome, Familial

OMIM® : 57 Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (Yuki and Tsujino, 1995; Koga et al., 2005). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (Nachamkin, 2001). Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (Geleijns et al., 2004). (139393) (Updated 05-Apr-2021)

MalaCards based summary : Guillain-Barre Syndrome, Familial, also known as neuropathy, inflammatory demyelinating, is related to guillain-barre syndrome and subacute inflammatory demyelinating polyneuropathy. An important gene associated with Guillain-Barre Syndrome, Familial is PMP22 (Peripheral Myelin Protein 22). The drugs gamma-Globulins and Rho(D) Immune Globulin have been mentioned in the context of this disorder. Related phenotypes are acute demyelinating polyneuropathy and hyporeflexia

CDC : 3 Group B Streptococcus (group B strep, GBS) are bacteria that come and go naturally in the body. Most of the time the bacteria are not harmful, but they can cause serious illness in people of all ages. In fact, group B strep disease is a common cause of severe infection in newborns. While GBS disease can be deadly, there are steps pregnant women can take to help protect their babies.

UniProtKB/Swiss-Prot : 72 Inflammatory demyelinating polyneuropathy: Putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome.

Related Diseases for Guillain-Barre Syndrome, Familial

Diseases in the Guillain-Barre Syndrome family:

Guillain-Barre Syndrome, Familial

Diseases related to Guillain-Barre Syndrome, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 368)
# Related Disease Score Top Affiliating Genes
1 guillain-barre syndrome 11.7
2 subacute inflammatory demyelinating polyneuropathy 11.3
3 miller fisher syndrome 11.3
4 acute and subacute inflammatory demyelinating polyneuropathy 11.3
5 chronic inflammatory demyelinating polyradiculoneuropathy 11.1
6 bickerstaff brainstem encephalitis 11.1
7 pharyngeal-cervical-brachial variant of guillain-barre syndrome 11.0
8 acute motor axonal neuropathy 11.0
9 acute motor and sensory axonal neuropathy 10.9
10 zika fever 10.9
11 acute pandysautonomia 10.9
12 acute sensory ataxic neuropathy 10.9
13 paraparetic variant of guillain-barre syndrome 10.9
14 acute pure sensory neuropathy 10.9
15 regional variant of guillain-barre syndrome 10.9
16 functional variant of guillain-barre syndrome 10.9
17 facial diplegia with paresthesias 10.9
18 sensory peripheral neuropathy 10.6
19 charcot-marie-tooth disease 10.5
20 diabetic polyneuropathy 10.5
21 hereditary neuropathies 10.5
22 tooth disease 10.5
23 tremor 10.5
24 poems syndrome 10.4
25 diabetic neuropathy 10.4
26 amyotrophic lateral sclerosis 1 10.4
27 mononeuropathy 10.4
28 hepatitis c 10.4
29 lateral sclerosis 10.4
30 myopathy 10.4
31 monoclonal gammopathy of uncertain significance 10.4
32 membranous nephropathy 10.3
33 ptosis 10.3
34 autoimmune neuropathy 10.3
35 mononeuritis multiplex 10.3
36 melanoma 10.3
37 neuromuscular disease 10.3
38 neuropathy, hereditary, with liability to pressure palsies 10.3
39 hepatitis c virus 10.3
40 proteinuria, chronic benign 10.3
41 hepatitis b 10.3
42 constipation 10.3
43 motor neuron disease 10.3
44 liver cirrhosis 10.3
45 vasculitis 10.3
46 dysphagia 10.3
47 polyneuropathy 10.3
48 polyradiculoneuropathy 10.3
49 immune deficiency disease 10.2
50 lymphoproliferative syndrome 10.2

Comorbidity relations with Guillain-Barre Syndrome, Familial via Phenotypic Disease Network (PDN):


Acute Cystitis Hypertension, Essential
Respiratory Failure

Graphical network of the top 20 diseases related to Guillain-Barre Syndrome, Familial:



Diseases related to Guillain-Barre Syndrome, Familial

Symptoms & Phenotypes for Guillain-Barre Syndrome, Familial

Human phenotypes related to Guillain-Barre Syndrome, Familial:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 acute demyelinating polyneuropathy 58 31 Obligate (100%) HP:0007131
2 hyporeflexia 58 Frequent (79-30%)
3 gait ataxia 58 Excluded (0%)
4 distal lower limb muscle weakness 58 Frequent (79-30%)
5 generalized hypotonia 58 Frequent (79-30%)
6 unsteady gait 58 Frequent (79-30%)
7 recurrent fever 58 Frequent (79-30%)
8 impaired oropharyngeal swallow response 58 Frequent (79-30%)
9 drooling 58 Frequent (79-30%)
10 dysesthesia 58 Frequent (79-30%)
11 emg: neuropathic changes 58 Frequent (79-30%)
12 onion bulb formation 58 Occasional (29-5%)
13 sleepy facial expression 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neuro:
acute demyelinating polyneuropathy

Misc:
usually sporadic

Clinical features from OMIM®:

139393 (Updated 05-Apr-2021)

Drugs & Therapeutics for Guillain-Barre Syndrome, Familial

Drugs for Guillain-Barre Syndrome, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 gamma-Globulins Phase 4
2 Rho(D) Immune Globulin Phase 4
3
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
4
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
5 Immunoglobulins Phase 3
6 Antibodies Phase 3
7 Immunoglobulins, Intravenous Phase 3
8 Immunologic Factors Phase 3
9 Immunoglobulin G Phase 3
10 Hormone Antagonists Phase 3
11 Hormones Phase 3
12 glucocorticoids Phase 3
13 Antineoplastic Agents, Hormonal Phase 3
14 Anti-Inflammatory Agents Phase 3
15
rituximab Approved Phase 2 174722-31-7 10201696
16
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
17
Biotin Approved, Investigational, Nutraceutical Phase 2 58-85-5 171548
18 Vitamin B9 Phase 2
19 Nutrients Phase 2
20 Trace Elements Phase 2
21 Vitamin B Complex Phase 2
22 Vitamins Phase 2
23 Folate Phase 2
24 Micronutrients Phase 2
25 Vitamin B7 Phase 2
26 Thymoglobulin Phase 2
27 Alpha-lipoic Acid Phase 2
28 Antioxidants Phase 2
29 Protective Agents Phase 2
30 Thioctic Acid Phase 2
31 Pharmaceutical Solutions Phase 2
32 Autoantibodies Phase 2
33 Complement System Proteins Phase 2
34 Antineoplastic Agents, Immunological Phase 2
35 Antibodies, Monoclonal Phase 2
36
Tryptophan Approved, Nutraceutical, Withdrawn 73-22-3 6305
37 Antidepressive Agents
38 Psychotropic Drugs
39 Antibodies, Anti-Idiotypic

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 Randomized Study of Single vs. Multiple Privigen Dose Regimens in Pediatric CIDP Recruiting NCT03684018 Phase 4
2 Randomized, Parallel Study of Subcutaneous Versus Intravenous Immunoglobulin in Treatment-naïve Patients With Chronic Inflammatory Demyelinating Polyneuropathy Recruiting NCT04589299 Phase 4
3 Prospective, Open-Label, Phase IIIb Study Evaluating the Safety, Tolerability and Efficacy of Panzyga® in Patients With Chronic Inflammatory Demyelinating Polyneuropathy Administered at Standard and High Infusion Rates Unknown status NCT03166527 Phase 3 Immune Globulin 10% Intravenous Solution
4 NPB-01(Intravenous Immunoglobulin) Maintenance Therapy for Patients With Chronic Inflammatory Demyelinating Polyneuropathy. Completed NCT01824251 Phase 3 NPB-01
5 A Single-arm Study to Demonstrate the Efficacy and Safety of Privigen in the Treatment of Subjects With Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Completed NCT01184846 Phase 3
6 Multicenter, Open-label Extension Study to Investigate the Long-term Safety and Efficacy of IgPro20 in Maintenance Treatment of Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) in Subjects Completing Study IgPro20_3003 Completed NCT02027701 Phase 3
7 Randomized, Multicenter, Double-blind, Placebo-controlled, Parallel-group Phase III Study to Investigate the Efficacy, Safety, and Tolerability of 2 Different Doses of IgPro20 (Subcutaneous Immunoglobulin) for the Treatment of Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) - the PATH Study Completed NCT01545076 Phase 3
8 Phase III Randomized, Double-Blind, Placebo-Controlled Study of Intravenous Immune Globulin for Chronic Inflammatory Demyelinating Polyneuropathy Completed NCT00004772 Phase 3 Immune globulin
9 Multicenter, Randomized, Double-blind, Placebo-controlled, Study to Evaluate the Efficacy and Safety of IGIV-Chromatography (IGIV-C), 10% Treatment in Subjects With Chronic Inflammatory Demyelinating Polyneuropathy Completed NCT00220740 Phase 3 Immune Globulin IV (Human), 10% Caprylate/Chromatography Purified;Albumin (Human) 25%, United States Pharmacopeia (USP)
10 Multicentre Randomized Open-label Trial to Compare Efficacy and Tolerance of Corticosteroids and IVIg in Patients With Chronic Inflammatory Demyelinating Polyneuropathy on a One Year Follow up Completed NCT01349270 Phase 3 Immunoglobulin perfusion;Prednisone
11 SERENDEM Study: MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study Completed NCT02967679 Phase 2 MD1003
12 Non-myeloablative Autologous Hematopoietic Stem Cell Transplantation in Patients With Chronic Inflammatory Demyelinating Polyneuropathy: A Phase II Trial Completed NCT00278629 Phase 2
13 The Efficacy of High-Dose Intravenous Immunoglobulin in Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Completed NCT00001287 Phase 2 intravenous immunoglobulin (IVIg)
14 Lipoic Acid for Chronic Inflammatory Demyelinating Polyneuropathy-A Randomized, Double-Blind, Placebo Controlled Pilot Study Completed NCT00962429 Phase 2 lipoic acid
15 Open-label Extension of the ARGX-113-1802 Trial to Investigate the Long-term Safety, Tolerability, and Efficacy of Efgartigimod PH20 SC in Patients With Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Recruiting NCT04280718 Phase 2
16 A Phase 2 Trial to Investigate the Efficacy, Safety, and Tolerability of Efgartigimod PH20 SC in Adult Patients With Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Recruiting NCT04281472 Phase 2
17 A Phase 2, Multicenter, Open-label, Proof-of-concept Study Evaluating the Efficacy, Safety, and Tolerability of BIVV020 in Adults With Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Recruiting NCT04658472 Phase 2 BIVV020
18 The Evaluation of Efficacy and Safety of Rituximab (Genetical Recombination) in Refractory Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Patients With Immunoglobulin G4 (IgG4) Autoantibodies in the Exploratory Clinical Trial Active, not recruiting NCT03864185 Phase 2
19 Rituximab in Chronic Inflammatory Demyelinating Polyneuropathy: A Phase II Study Not yet recruiting NCT04480450 Phase 2 Rituximab
20 A Phase II Trial of High-dose Cyclophosphamide for Moderate to Severe Refractory Chronic Inflammatory Demyelinating Polyneuropathy Withdrawn NCT01236456 Phase 2 Cyclophosphamide
21 Pilot Study of Acthar® Gel in Chronic Inflammatory Demyelinating Neuropathy Withdrawn NCT02574962 Phase 2 H.P. Acthar® Gel
22 Perception and Multisensory Integration in Neurological Patients Using fMRI Unknown status NCT01469858
23 Quantification of Nerve Stiffness in Patients With Peripheral Neuropathies Unknown status NCT03397303
24 A Study of Subcutaneous Immunoglobulin as Chronic Treatment for Patients With Chronic Inflammatory Demyelinating Polyneuropathy Unknown status NCT02465359 Immune Globulin Subcutaneous (Human)
25 sCD163 & CD19 as Candidate Biomarkers in Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) - A Study of sCD163 in the Cerebrospinal Fluid Unknown status NCT02271724
26 Immunoadsorption or Plasma Exchange - What is the Best Treatment Option of Steroid Refractory Neurological Autoimmune Diseases Completed NCT04687332
27 Prevalence of Decreased Corneal Sensation in Patients With Chronic Inflammatory Demyelinating Polyneuropathy Completed NCT01379833
28 Effect of Resistance and Aerobic Exercise on Muscle Strength, Aerobic Capacity and Quality of Life in Patients Treated With Immunoglobulin for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) or Multifocal Motor Neuropathy (MMN) Completed NCT02121678
29 The Influence of Immunoglobulin Dosage and Administration on Development of Hemolytic Anemia and Variation on Muscle Strength in Patients With CIDP and MMN Completed NCT02111590 Immunoglobulins
30 Intravenous Immunoglobulin (IVIg) Treatment-Related Fluctuations in Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Patients Using Daily Grip Strength Measurements (GRIPPER) Completed NCT02414490 Intravenous Immunoglobulin
31 Descriptive Analysis of Morphological Aspects of Nerve by Ultra-high Frequency Ultrasound (30-50MHZ) in Demyelinating Neuropathies: Inflammatory Demyelinating Polyneuropathy Chronic (IPDC), Neuropathy Multifocal Motor Block of Conducting (NMMBC) and Neuropathy With Antibody A MAG Recruiting NCT03008733
32 A Registered Cohort Study of Immune-Mediated Neuropathies Recruiting NCT04292834
33 Processing Integration in Neurological Patients Using fMRI Not yet recruiting NCT02722070
34 Non-invasive Vagus Nerve Stimulation (nVNS) in Pediatric Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Not yet recruiting NCT03772717 Standard of Care
35 Hizentra® in Inflammatory Neuropathies - pHeNIx Study Not yet recruiting NCT04672733
36 A Multicenter Pilot Study to Determine Criteria for Evaluating the Effectiveness of Two Comparative Monitoring Methods in the Management of Patients With Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) Receiving Home-based Treatment With IVIg (Privigen®) Terminated NCT03779828

Search NIH Clinical Center for Guillain-Barre Syndrome, Familial

Genetic Tests for Guillain-Barre Syndrome, Familial

Genetic tests related to Guillain-Barre Syndrome, Familial:

# Genetic test Affiliating Genes
1 Guillain-Barre Syndrome, Familial 29 PMP22

Anatomical Context for Guillain-Barre Syndrome, Familial

Publications for Guillain-Barre Syndrome, Familial

Articles related to Guillain-Barre Syndrome, Familial:

(show all 22)
# Title Authors PMID Year
1
Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion. 57 6
12439896 2002
2
Neuropathy in a human without the PMP22 gene. 6
21670407 2011
3
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. 6
18698610 2008
4
Interleukin 23 in acute inflammatory demyelination of the peripheral nerve. 57
16769867 2006
5
Campylobacter gene polymorphism as a determinant of clinical features of Guillain-Barré syndrome. 57
16162859 2005
6
The occurrence of Guillain-Barre syndrome within families. 57
15534275 2004
7
Immunoglobulin KM genes in Guillain-Barré syndrome. 57
12736802 2003
8
Campylobacter Enteritis and the Guillain-Barré Syndrome. 57
11286651 2001
9
Familial Guillain-Barre syndrome. 57
10362907 1999
10
Genetic contribution of the tumor necrosis factor region in Guillain-Barré syndrome. 57
9818939 1998
11
Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group. 6
8541860 1995
12
A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. 6
7825607 1995
13
Familial Guillain-Barré syndrome subsequent to Campylobacter jejuni enteritis. 57
7815216 1995
14
DNA deletion associated with hereditary neuropathy with liability to pressure palsies. 6
8422677 1993
15
HLA antigens in familial Guillain-Barré syndrome. 57
1619424 1992
16
Guillain-Barré syndrome in three siblings less than 2 years old. 57
1929520 1991
17
Familial Guillain-Barré syndrome. 57
4165426 1965
18
Familial Guillain-Barŕe syndrome. 57
4158808 1965
19
Neuromuscular diseases associated with Human Immunodeficiency Virus infection. 61
29571868 2018
20
Multifocal motor sensory demyelinating neuropathy: inflammatory demyelinating polyradiculoneuropathy. 61
16301495 2005
21
Neuromuscular complications in HIV. 61
14683631 2004
22
HIV-1-Associated Neuropathies. 61
18268468 2000

Variations for Guillain-Barre Syndrome, Familial

ClinVar genetic disease variations for Guillain-Barre Syndrome, Familial:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PMP22 PMP22, 1.1- to 1.5-MB DEL Deletion Pathogenic 8430 GRCh37:
GRCh38:
2 PMP22 NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) SNV Uncertain significance 188195 rs756046682 GRCh37: 17:15142922-15142922
GRCh38: 17:15239605-15239605
3 PMP22 NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) SNV Uncertain significance 462781 rs1022583382 GRCh37: 17:15134239-15134239
GRCh38: 17:15230922-15230922
4 PMP22 NM_000304.4(PMP22):c.362A>G (p.His121Arg) SNV not provided 586345 rs1567698985 GRCh37: 17:15134355-15134355
GRCh38: 17:15231038-15231038

Expression for Guillain-Barre Syndrome, Familial

Search GEO for disease gene expression data for Guillain-Barre Syndrome, Familial.

Pathways for Guillain-Barre Syndrome, Familial

GO Terms for Guillain-Barre Syndrome, Familial

Sources for Guillain-Barre Syndrome, Familial

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....