Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   guillain-barre syndrome
  

Disease ID 192
Disease guillain-barre syndrome
Definition
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
Synonym
gbs
gbs - guillain-barre syndrome
guillain barre disease
guillain barre syndrome
guillain barré syndrome
guillain-barre disease
guillain-barre syndrome (disorder)
guillain-barre syndrome (gbs)
guillain-barre syndrome [disease/finding]
guillain-barre syndrome, familial
guillain-barré syndrome
guillain-barré syndrome (disorder)
guillaine barre syndrome
guillaine-barre syndrome
gullian barre syndrome
landry guillain barre syndrome
landry paralysis
landry's paralysis
landry-guillain-barre syndrome
landry-guillain-barré syndrome
syndrome guillain-barre
syndrome, guillain-barre
syndrome, guillaine-barre
syndrome, landry-guillain-barre
Orphanet
OMIM
DOID
ICD10
UMLS
C0018378
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:84)
C0019158  |  hepatitis  |  7
C0085293  |  hepatitis e  |  7
C0442874  |  neuropathy  |  5
C0042769  |  virus infection  |  5
C0021400  |  influenza  |  4
C0393799  |  fisher syndrome  |  3
C1145670  |  respiratory failure  |  3
C0015464  |  facial nerve palsy  |  2
C0026769  |  multiple sclerosis  |  2
C0003864  |  arthritis  |  2
C0270921  |  axonal neuropathy  |  2
C0026934  |  mycoplasma  |  2
C0006818  |  campylobacter infection  |  2
C0032285  |  pneumoniae  |  2
C0878544  |  cardiomyopathy  |  2
C0032302  |  mycoplasma pneumonia  |  2
C0034152  |  henoch-schonlein purpura  |  1
C0011882  |  diabetic neuropathy  |  1
C0039144  |  syringomyelia  |  1
C0022658  |  nephropathy  |  1
C0003873  |  rheumatoid arthritis  |  1
C0023903  |  hepatic cancer  |  1
C0677607  |  hashimoto thyroiditis  |  1
C0004623  |  bacterial infection  |  1
C1847523  |  abducens palsy  |  1
C0276357  |  swine influenza  |  1
C0037928  |  myelopathy  |  1
C0041471  |  typhus  |  1
C0034735  |  raynaud's phenomenon  |  1
C0393799  |  miller fisher syndrome  |  1
C0035258  |  restless legs  |  1
C0041466  |  typhoid  |  1
C0036472  |  scrub typhus  |  1
C0409974  |  lupus erythematosus  |  1
C0162293  |  papillitis  |  1
C0035258  |  restless legs syndrome  |  1
C0011880  |  diabetic ketoacidosis  |  1
C0085273  |  parvovirus b19 infection  |  1
C0005697  |  neurogenic bladder  |  1
C0259749  |  autonomic neuropathy  |  1
C0007570  |  celiac disease  |  1
C0030443  |  periodic paralysis  |  1
C0027726  |  nephrotic syndrome  |  1
C0019829  |  hodgkin's lymphoma  |  1
C0020255  |  hydrocephalus  |  1
C0034150  |  purpura  |  1
C0031511  |  pheochromocytoma  |  1
C0393819  |  chronic inflammatory demyelinating polyradiculoneuropathy  |  1
C0014057  |  japanese encephalitis  |  1
C0023449  |  acute lymphoblastic leukemia  |  1
C0017605  |  angle-closure glaucoma  |  1
C0037317  |  sleep disturbance  |  1
C0154946  |  acute angle-closure glaucoma  |  1
C0019348  |  herpes simplex  |  1
C0004623  |  bacterial infections  |  1
C0015469  |  facial paralysis  |  1
C0014038  |  encephalitis  |  1
C0021053  |  immune disease  |  1
C0018818  |  ventricular septal defect  |  1
C0006309  |  brucellosis  |  1
C0021345  |  mononucleosis  |  1
C0270922  |  demyelinating polyneuropathy  |  1
C0041466  |  typhoid fever  |  1
C0031117  |  peripheral neuropathy  |  1
C0001175  |  acquired immune deficiency  |  1
C0152025  |  polyneuropathy  |  1
C0001175  |  acquired immune deficiency syndrome (aids)  |  1
C0015469  |  facial nerve paralysis  |  1
C0023448  |  lymphoblastic leukemia  |  1
C0020538  |  hypertension  |  1
C0037317  |  sleep disturbances  |  1
C0024141  |  systemic lupus erythematosus  |  1
C0032587  |  polyradiculoneuropathy  |  1
C0001175  |  acquired immune deficiency syndrome  |  1
C0024305  |  non-hodgkin's lymphoma  |  1
C0030442  |  bulbar palsy  |  1
C0041327  |  pulmonary tuberculosis  |  1
C0009377  |  colonic pseudo-obstruction  |  1
C0015464  |  facial palsy  |  1
C0017601  |  glaucoma  |  1
C0021345  |  infectious mononucleosis  |  1
C0017665  |  membranous nephropathy  |  1
C0027121  |  myositis  |  1
C0016735  |  frontal sinusitis  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:2)
5376  |  PMP22  |  ORPHANET;UNIPROT
7124  |  TNF  |  GHR
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:17)
348  |  APOE  |  CIPHER
929  |  CD14  |  CIPHER
909  |  CD1A  |  CIPHER
912  |  CD1D  |  CIPHER
913  |  CD1E  |  CIPHER
2212  |  FCGR2A  |  CIPHER
2214  |  FCGR3A  |  CIPHER
2215  |  FCGR3B  |  CIPHER
3117  |  HLA-DQA1  |  CIPHER
3119  |  HLA-DQB1  |  CIPHER
3123  |  HLA-DRB1  |  CIPHER
3586  |  IL10  |  CIPHER
4153  |  MBL2  |  CIPHER
4318  |  MMP9  |  CIPHER
2908  |  NR3C1  |  CIPHER
7099  |  TLR4  |  CIPHER
7124  |  TNF  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:103)
337  |  APOA4  |  2.381  |  DISEASES
361  |  AQP4  |  1.102  |  DISEASES
551  |  AVP  |  2.448  |  DISEASES
627  |  BDNF  |  1.601  |  DISEASES
26005  |  C2CD3  |  1.16  |  DISEASES
720  |  C4A  |  1.438  |  DISEASES
730  |  C7  |  2.555  |  DISEASES
774  |  CACNA1B  |  1.15  |  DISEASES
4076  |  CAPRIN1  |  1.881  |  DISEASES
8573  |  CASK  |  1.135  |  DISEASES
875  |  CBS  |  1.499  |  DISEASES
910  |  CD1B  |  1.812  |  DISEASES
911  |  CD1C  |  1.486  |  DISEASES
913  |  CD1E  |  4.445  |  DISEASES
124599  |  CD300LB  |  4.023  |  DISEASES
959  |  CD40LG  |  5.874  |  DISEASES
966  |  CD59  |  1.824  |  DISEASES
942  |  CD86  |  1.918  |  DISEASES
7122  |  CLDN5  |  2.351  |  DISEASES
23601  |  CLEC5A  |  1.915  |  DISEASES
22866  |  CNKSR2  |  2.189  |  DISEASES
1270  |  CNTF  |  1.016  |  DISEASES
1272  |  CNTN1  |  2.176  |  DISEASES
26047  |  CNTNAP2  |  1.867  |  DISEASES
1471  |  CST3  |  1.587  |  DISEASES
5476  |  CTSA  |  2.312  |  DISEASES
4283  |  CXCL9  |  1.038  |  DISEASES
2833  |  CXCR3  |  1.454  |  DISEASES
51428  |  DDX41  |  3.216  |  DISEASES
1847  |  DUSP5  |  1.335  |  DISEASES
124454  |  EARS2  |  1.074  |  DISEASES
1896  |  EDA  |  2.175  |  DISEASES
2204  |  FCAR  |  1.012  |  DISEASES
50943  |  FOXP3  |  1.711  |  DISEASES
10146  |  G3BP1  |  1.087  |  DISEASES
2550  |  GABBR1  |  1.082  |  DISEASES
2582  |  GALE  |  2.607  |  DISEASES
342035  |  GLDN  |  3.671  |  DISEASES
2719  |  GPC3  |  2.651  |  DISEASES
3106  |  HLA-B  |  1.133  |  DISEASES
3115  |  HLA-DPB1  |  1.114  |  DISEASES
3119  |  HLA-DQB1  |  1.777  |  DISEASES
3120  |  HLA-DQB2  |  1.508  |  DISEASES
8091  |  HMGA2  |  4.995  |  DISEASES
3240  |  HP  |  1.639  |  DISEASES
3329  |  HSPD1  |  1.29  |  DISEASES
3376  |  IARS  |  1.525  |  DISEASES
3423  |  IDS  |  1.449  |  DISEASES
3455  |  IFNAR2  |  1.251  |  DISEASES
3456  |  IFNB1  |  2.733  |  DISEASES
3586  |  IL10  |  2.45  |  DISEASES
3605  |  IL17A  |  2.448  |  DISEASES
50616  |  IL22  |  1.192  |  DISEASES
27124  |  INPP5J  |  1.743  |  DISEASES
3684  |  ITGAM  |  1.146  |  DISEASES
3767  |  KCNJ11  |  1.474  |  DISEASES
8284  |  KDM5D  |  1.124  |  DISEASES
9211  |  LGI1  |  2.371  |  DISEASES
4049  |  LTA  |  2.203  |  DISEASES
4099  |  MAG  |  4.68  |  DISEASES
93487  |  MAPK1IP1L  |  2.933  |  DISEASES
4155  |  MBP  |  3.673  |  DISEASES
9282  |  MED14  |  3.064  |  DISEASES
4318  |  MMP9  |  2.119  |  DISEASES
4359  |  MPZ  |  1.269  |  DISEASES
4478  |  MSN  |  1.761  |  DISEASES
4593  |  MUSK  |  2.239  |  DISEASES
342538  |  NACA2  |  3.004  |  DISEASES
23114  |  NFASC  |  4.538  |  DISEASES
4803  |  NGF  |  2.196  |  DISEASES
51199  |  NIN  |  2.014  |  DISEASES
4897  |  NRCAM  |  1.801  |  DISEASES
100506658  |  OCLN  |  1.098  |  DISEASES
103164619  |  PCAT2  |  1.206  |  DISEASES
23481  |  PES1  |  3.378  |  DISEASES
11331  |  PHB2  |  2.543  |  DISEASES
5251  |  PHEX  |  1.042  |  DISEASES
10687  |  PNMA2  |  1.843  |  DISEASES
5554  |  PRH1  |  1.802  |  DISEASES
5555  |  PRH2  |  1.802  |  DISEASES
5563  |  PRKAA2  |  1.433  |  DISEASES
5730  |  PTGDS  |  1.965  |  DISEASES
5813  |  PURA  |  1.221  |  DISEASES
387  |  RHOA  |  1.888  |  DISEASES
7732  |  RNF112  |  1.02  |  DISEASES
6223  |  RPS19  |  3.01  |  DISEASES
6227  |  RPS21  |  1.623  |  DISEASES
6280  |  S100A9  |  1.548  |  DISEASES
6342  |  SCP2  |  1.097  |  DISEASES
123228  |  SENP8  |  1.186  |  DISEASES
9047  |  SH2D2A  |  1.86  |  DISEASES
6614  |  SIGLEC1  |  2.852  |  DISEASES
27036  |  SIGLEC7  |  3.791  |  DISEASES
55576  |  STAB2  |  1.806  |  DISEASES
25870  |  SUMF2  |  1.318  |  DISEASES
6891  |  TAP2  |  2.259  |  DISEASES
7073  |  TIAL1  |  1.443  |  DISEASES
7099  |  TLR4  |  2.187  |  DISEASES
7124  |  TNF  |  3.576  |  DISEASES
7133  |  TNFRSF1B  |  1.25  |  DISEASES
54209  |  TREM2  |  1.842  |  DISEASES
7456  |  WIPF1  |  1.337  |  DISEASES
26137  |  ZBTB20  |  1.292  |  DISEASES
Locus(Waiting for update.)
Disease ID 192
Disease guillain-barre syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:1)
HP:0007131  |  Acute demyelinating polyneuropathy
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:72)
HP:0012115  |  Liver inflammation  |  6
HP:0003470  |  Inability to move  |  5
HP:0010628  |  Facial palsy, unilateral or bilateral  |  4
HP:0001349  |  Facial paresis, bilateral  |  4
HP:0002878  |  Respiratory failure  |  3
HP:0012531  |  Pain  |  3
HP:0002902  |  Hyponatremia  |  3
HP:0200119  |  Acute liver inflammation  |  3
HP:0012378  |  Fatigue  |  3
HP:0001369  |  Arthritis  |  2
HP:0003477  |  Peripheral axonal neuropathy  |  2
HP:0001298  |  Encephalopathy  |  2
HP:0001347  |  Hyperreflexia  |  2
HP:0001638  |  Cardiomyopathy  |  2
HP:0003390  |  Sensory axonal neuropathy  |  2
HP:0000011  |  Neurogenic bladder  |  1
HP:0002273  |  Tetraparesis  |  1
HP:0430025  |  Bilateral facial paralysis  |  1
HP:0001953  |  Diabetic ketosis  |  1
HP:0009830  |  Peripheral neuritis  |  1
HP:0012393  |  Allergy  |  1
HP:0006721  |  Acute lymphocytic leukemia  |  1
HP:0001324  |  Muscular weakness  |  1
HP:0000979  |  Purpura  |  1
HP:0002203  |  Respiratory paralysis  |  1
HP:0007942  |  Internal ophthalmoplegia  |  1
HP:0012799  |  Unilateral facial weakness  |  1
HP:0002664  |  Neoplasia  |  1
HP:0001629  |  Ventricular septal defects  |  1
HP:0002015  |  Swallowing difficulty  |  1
HP:0011986  |  Ectopic bone formation  |  1
HP:0001945  |  Fever  |  1
HP:0000100  |  Nephrosis  |  1
HP:0040078  |  Axonal degeneration  |  1
HP:0000127  |  Salt wasting  |  1
HP:0030880  |  Raynaud phenomenon  |  1
HP:0002960  |  Autoimmune condition  |  1
HP:0000238  |  Nonsyndromal hydrocephalus  |  1
HP:0003326  |  Muscle pain  |  1
HP:0002318  |  Cervical myelopathy  |  1
HP:0001993  |  Ketoacidosis  |  1
HP:0002608  |  Celiac disease  |  1
HP:0100614  |  Muscle inflammation  |  1
HP:0000501  |  Glaucoma  |  1
HP:0003768  |  Periodic paralysis  |  1
HP:0012819  |  Myocarditis  |  1
HP:0012578  |  Membranous glomerulonephritis  |  1
HP:0001283  |  Bulbar palsies  |  1
HP:0002666  |  Pheochromocytoma  |  1
HP:0002013  |  Emesis  |  1
HP:0011665  |  Takotsubo cardiomyopathy  |  1
HP:0003447  |  Axonal loss  |  1
HP:0001271  |  Polyneuropathy  |  1
HP:0000872  |  Hashimoto's thyroiditis  |  1
HP:0001171  |  Hand ectrodactyly  |  1
HP:0002725  |  Systemic lupus erythematosus  |  1
HP:0003401  |  Paresthesia  |  1
HP:0001370  |  Rheumatoid arthritis  |  1
HP:0011349  |  Sixth nerve palsy  |  1
HP:0001336  |  Myoclonic jerks  |  1
HP:0002360  |  Sleep disturbance  |  1
HP:0003396  |  Syringomyelia  |  1
HP:0012452  |  Restless legs  |  1
HP:0012189  |  Hodgkin disease  |  1
HP:0006882  |  Severe hydrocephalus  |  1
HP:0000822  |  Hypertension  |  1
HP:0002459  |  Dysautonomia  |  1
HP:0002383  |  Encephalitis  |  1
HP:0007209  |  Facial paresis  |  1
HP:0002196  |  Myelopathy  |  1
HP:0000112  |  Nephropathy  |  1
HP:0002721  |  Immunodeficiency  |  1
Disease ID 192
Disease guillain-barre syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:20)
C2364133  |  infection
C2364051  |  fatigue
C2108077  |  atrioventricular block
C2096315  |  headache
C1963137  |  hydrocephalus
C1962971  |  myocarditis
C1145670  |  respiratory failure
C1135207  |  ataxia
C0271650  |  impaired glucose tolerance
C0239889  |  severe headache
C0221165  |  diplegia
C0155320  |  cortical blindness
C0155288  |  papilledema
C0028866  |  oculomotor nerve palsy
C0027813  |  neuritis
C0027726  |  nephrotic syndrome
C0024535  |  plasmodium falciparum malaria
C0018378  |  acute inflammatory demyelinating polyradiculoneuropathy
C0011860  |  diabetes
C0010403  |  cryoglobulinemia
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:7)
C0009450  |  infection  |  8
C0221165  |  diplegia  |  4
C0015672  |  fatigue  |  3
C1145670  |  respiratory failure  |  3
C0027059  |  myocarditis  |  1
C0027726  |  nephrotic syndrome  |  1
C0020255  |  hydrocephalus  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:3)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs39751476725818314966CD59umls:C0018378BeFreeThe Cys89Tyr mutation in CD59 was clinically manifested in infancy, and associated with chronic hemolysis and relapsing peripheral demyelinating disease resembling recurrent Guillain-Barré syndrome (GBS) or chronic inflammatory demyelinating polyneuropathy (CIDP).0.0002714422015CD591133710247CT
rs4986790199139227099TLR4umls:C0018378BeFreeAssociation of TLR4 Asp299Gly and Thr399Ile polymorphisms with Guillain-Barré syndrome in Northern Indian population.0.0002714422010TLR49117713024AG
rs4986791199139227099TLR4umls:C0018378BeFreeAssociation of TLR4 Asp299Gly and Thr399Ile polymorphisms with Guillain-Barré syndrome in Northern Indian population.0.0002714422010TLR49117713324CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:1)
HP ID HP Name MP ID MP Name Annotation
HP:0007131Acute demyelinating polyneuropathyMP:0013438dysmyelinationreduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin
Disease ID 192
Disease guillain-barre syndrome
Case(Waiting for update.)