IDP
MCID: GLL037
MIFTS: 33

Guillain-Barre Syndrome, Familial (IDP)

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

Aliases & Classifications for Guillain-Barre Syndrome, Familial

MalaCards integrated aliases for Guillain-Barre Syndrome, Familial:

Name: Guillain-Barre Syndrome, Familial 57 29 40
Neuropathy, Inflammatory Demyelinating 57 13
Aidp 57 59
Gbs 57 3
Guillain-Barré Syndrome, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form 59
Gbs, Acute Inflammatory Demyelinating Polyradiculoneuropathic Form 59
Polyneuropathy, Inflammatory Demyelinating, Acute; Aidp 57
Acute Inflammatory Demyelinating Polyradiculoneuropathy 59
Polyneuropathy, Inflammatory Demyelinating, Acute 57
Acute Inflammatory Demyelinating Polyneuropathy 73
Acute Idiopathic Demyelinating Polyneuropathy 59
Polyneuropathy, Inflammatory Demyelinating 6
Inflammatory Demyelinating Polyneuropathy 75
Acute Inflammatory Polyneuropathy 59
Idp 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
? autosomal dominant form


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 139393
Orphanet 59 ORPHA98916
UMLS via Orphanet 74 C1963929
ICD10 via Orphanet 34 G61.0
UMLS 73 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)

MalaCards based summary : Guillain-Barre Syndrome, Familial, also known as neuropathy, inflammatory demyelinating, is related to subacute inflammatory demyelinating polyneuropathy and guillain-barre syndrome. An important gene associated with Guillain-Barre Syndrome, Familial is PMP22 (Peripheral Myelin Protein 22). Affiliated tissues include liver, thyroid and t cells, and related phenotypes are hyporeflexia and generalized hypotonia

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 : 75 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 222)
# Related Disease Score Top Affiliating Genes
1 subacute inflammatory demyelinating polyneuropathy 12.5
2 guillain-barre syndrome 12.2
3 miller fisher syndrome 11.7
4 lewis-sumner syndrome 11.6
5 chronic inflammatory demyelinating polyneuropathy 11.5
6 pharyngeal-cervical-brachial variant of guillain-barré syndrome 11.1
7 zika fever 11.0
8 acute flaccid myelitis 11.0
9 zika virus infection 11.0
10 acute pandysautonomia 11.0
11 acute sensory ataxic neuropathy 11.0
12 paraparetic variant of guillain-barré syndrome 11.0
13 acute pure sensory neuropathy 11.0
14 facial diplegia with paresthesias 11.0
15 acute motor axonal neuropathy 11.0
16 acute motor and sensory axonal neuropathy 11.0
17 hepatitis 10.5
18 herpes simplex 10.5
19 welander distal myopathy 10.4
20 primary amebic meningoencephalitis 10.3
21 myasthenia gravis 10.3
22 charcot-marie-tooth disease 10.3
23 tooth disease 10.3
24 melanoma 10.3
25 myasthenia gravis congenital 10.3
26 hepatitis c 10.3
27 multiple sclerosis 10.3
28 poems syndrome 10.3
29 viral infectious disease 10.2
30 neuropathy 10.2
31 hepatitis c virus 10.2
32 glomerulonephritis 10.2
33 respiratory failure 10.2
34 psoriasis 10.2
35 polymyositis 10.2
36 axonal neuropathy 10.1
37 human immunodeficiency virus type 1 10.1
38 laryngotracheitis 10.1
39 carpal tunnel syndrome 10.1
40 focal segmental glomerulosclerosis 1 10.1
41 mononeuropathy of the median nerve, mild 10.1
42 membranous nephropathy 10.1
43 arthritis 10.1
44 crohn's disease 10.1
45 diabetic neuropathy 10.1
46 focal segmental glomerulosclerosis 10.1
47 scoliosis 10.1
48 abducens nerve disease 10.1
49 diabetic polyneuropathy 10.1
50 mononeuritis multiplex 10.1

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

Symptoms via clinical synopsis from OMIM:

57
Neuro:
acute demyelinating polyneuropathy

Misc:
usually sporadic


Clinical features from OMIM:

139393

Human phenotypes related to Guillain-Barre Syndrome, Familial:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
2 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
3 distal lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009053
4 drooling 59 32 frequent (33%) Frequent (79-30%) HP:0002307
5 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
6 episodic fever 59 32 frequent (33%) Frequent (79-30%) HP:0001954
7 dysesthesia 59 32 frequent (33%) Frequent (79-30%) HP:0012534
8 onion bulb formation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003383
9 impaired oropharyngeal swallow response 59 32 frequent (33%) Frequent (79-30%) HP:0031162
10 acute demyelinating polyneuropathy 59 32 obligate (100%) Obligate (100%) HP:0007131
11 sleepy facial expression 59 32 frequent (33%) Frequent (79-30%) HP:0005335
12 gait ataxia 59 Excluded (0%)
13 emg: neuropathic changes 59 Frequent (79-30%)
14 emg 32 frequent (33%) HP:0003445

Drugs & Therapeutics for Guillain-Barre Syndrome, Familial

Search Clinical Trials , 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

MalaCards organs/tissues related to Guillain-Barre Syndrome, Familial:

41
Liver, Thyroid, T Cells

Publications for Guillain-Barre Syndrome, Familial

Articles related to Guillain-Barre Syndrome, Familial:

# Title Authors Year
1
Multifocal motor sensory demyelinating neuropathy: inflammatory demyelinating polyradiculoneuropathy. ( 16301495 )
2005

Variations for Guillain-Barre Syndrome, Familial

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PMP22 PMP22, 1.1- to 1.5-MB DEL deletion Pathogenic

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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