MCID: RSM001
MIFTS: 46

Rasmussen Encephalitis

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Rasmussen Encephalitis

MalaCards integrated aliases for Rasmussen Encephalitis:

Name: Rasmussen Encephalitis 53 37 55
Rasmussen's Encephalitis 54
Rasmussen Syndrome 73
Re 53

Classifications:



External Ids:

KEGG 37 H01812
UMLS 73 C0393484

Summaries for Rasmussen Encephalitis

NINDS : 54 Rasmussen’s encephalitis is a rare, chronic inflammatory neurological disease that usually affects only one hemisphere of the brain.  It usually occurs in children under the age of 10 (more rarely in adolescents and adults), and is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration.  Most individuals with Rasmussen’s encephalitis will experience frequent seizures and progressive brain damage in the affected hemisphere of the brain over the course of the first 8 to 12 months, and then enter a phase of permanent, but stable, neurological deficits.  Rasmussen’s encephalitis has features of an autoimmune disease in which immune system cells enter the brain and cause inflammation and damage. Research is ongoing into the causes of this rare disease.

MalaCards based summary : Rasmussen Encephalitis, also known as rasmussen's encephalitis, is related to meningitis and autoimmune disease. An important gene associated with Rasmussen Encephalitis is GRIA3 (Glutamate Ionotropic Receptor AMPA Type Subunit 3), and among its related pathways/superpathways are T cell receptor signaling pathway and TGF-Beta Pathway. The drugs Tacrolimus and Rho(D) Immune Globulin have been mentioned in the context of this disorder. Affiliated tissues include brain and t cells, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 53 Rasmussen encephalitis is a chronic inflammatory neurological disease that usually affects only one hemisphere of the brain. It most often occurs in children under the age of 10, although adolescents and adults may also be affected. Rasmussen encephalitis is characterized by frequent and severe seizures, loss of motor skills and speech, paralysis on one side of the body (hemiparesis), inflammation of the brain (encephalitis), and mental deterioration. While the cause of Rasmussen encephalitis is unknown, there is evidence that in many patients it is an autoimmune disorder. Immune therapy and surgery may be used for treatment.

Wikipedia : 76 Rasmussen\'s encephalitis, also known as chronic focal encephalitis (CFE), is a rare inflammatory... more...

Related Diseases for Rasmussen Encephalitis

Diseases in the Rasmussen Encephalitis family:

Rasmussen Subacute Encephalitis

Diseases related to Rasmussen Encephalitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 173)
# Related Disease Score Top Affiliating Genes
1 meningitis 30.1 IFNG IL6 TNF
2 autoimmune disease 30.0 IFNG IL4 IL6 TNF
3 mycoplasmal pneumonia 10.9 IFNG IL4
4 encephalitis 10.9
5 hyperlucent lung 10.8 IFNG IL4
6 eosinophilic fasciitis 10.7 BMP6 IFNG
7 b-cell growth factor 10.7 IFNG IL4 IL6
8 tropical endomyocardial fibrosis 10.7 IL4 TNF
9 proliferative glomerulonephritis 10.6 IFNG IL4 IL6
10 scorpion envenomation 10.6 IL6 TNF
11 conjunctivitis 10.6 IFNG IL4 IL6
12 hand, foot and mouth disease 10.6 HMGB1 IFNG IL6
13 systemic onset juvenile idiopathic arthritis 10.6 IL18 TNF
14 leukomalacia 10.5 IL6 TNF
15 skin sarcoidosis 10.5 ADK TNF
16 angioimmunoblastic lymphadenopathy with dysproteinemia 10.5 IL6 TNF
17 autoimmune myocarditis 10.5 IFNG TNF
18 pleural tuberculosis 10.4 IFNG IL18 TNF
19 primary systemic mycosis 10.4 IFNG IL4 TNF
20 stachybotrys chartarum 10.4 IL18 IL6 TNF
21 poliomyelitis 10.4 IFNG IL4 TNF
22 orofacial granulomatosis 10.4 IFNG IL4 TNF
23 tungiasis 10.4 IL4 TNF
24 coccidiosis 10.4 IFNG IL4 TNF
25 lichen disease 10.4 IFNG IL4 TNF
26 adult-onset still's disease 10.4 IL18 IL6 TNF
27 endomyocardial fibrosis 10.4 IL4 TNF
28 meconium aspiration syndrome 10.4 IFNG IL6 TNF
29 opportunistic mycosis 10.4 IFNG IL4 TNF
30 intermediate uveitis 10.4 IFNG IL6 TNF
31 aphthous stomatitis 10.4 IL4 IL6 TNF
32 extrinsic cardiomyopathy 10.4 IL4 IL6 TNF
33 hemorrhagic fever 10.4 IFNG IL6 TNF
34 staphylococcal toxic shock syndrome 10.4 HMGB1 IFNG TNF
35 rheumatic heart disease 10.4 IL4 IL6 TNF
36 hematopoietic stem cell transplantation 10.4 IFNG IL6 TNF
37 keratoconjunctivitis sicca 10.4 IL4 IL6 TNF
38 eosinophilic gastritis 10.4 IL15 IL18 IL4
39 cytomegalovirus infection 10.4 IFNG IL6 TNF
40 smallpox 10.4 IFNG IL18 TNF
41 plasmodium vivax malaria 10.4 IFNG IL6 TNF
42 leprosy 3 10.4 IFNG IL4 TNF
43 neuritis 10.4 IFNG IL4 TNF
44 pulmonary sarcoidosis 10.4 IFNG IL18 TNF
45 mixed connective tissue disease 10.4 IFNG IL6 TNF
46 echinococcosis 10.4 IFNG IL6 TNF
47 keratoconjunctivitis 10.4 IFNG IL4 TNF
48 acute necrotizing encephalitis 10.4 GZMB IFNG
49 lymphadenitis 10.4 IFNG IL18 TNF
50 reactive arthritis 10.4 IFNG IL6 TNF

Graphical network of the top 20 diseases related to Rasmussen Encephalitis:



Diseases related to Rasmussen Encephalitis

Symptoms & Phenotypes for Rasmussen Encephalitis

MGI Mouse Phenotypes related to Rasmussen Encephalitis:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 ADK GAD1 ADORA1 GRIA3 CCK IFNG
2 growth/size/body region MP:0005378 10.27 ADK GAD1 GRIA3 BMP6 IFNG CHRNA7
3 mortality/aging MP:0010768 10.22 TNF IFNG CHRNA7 ADK GAD1 ADORA1
4 homeostasis/metabolism MP:0005376 10.21 TNF CHRNA7 ADK GAD1 ADORA1 CCK
5 nervous system MP:0003631 10.21 ADK GAD1 ADORA1 GRIA3 CCK IFNG
6 digestive/alimentary MP:0005381 10.08 IFNG CHRNA7 GAD1 TNF IL6 IL18
7 no phenotypic analysis MP:0003012 9.92 IFNG CHRNA7 GAD1 GRIA3 CCK TNF
8 normal MP:0002873 9.86 CHRNA7 GAD1 ADORA1 GSR IFNG SCN1A
9 reproductive system MP:0005389 9.81 TNF IFNG CHRNA7 BMP6 GRIA3 IL6
10 respiratory system MP:0005388 9.61 ADK GAD1 ADORA1 IFNG CHRNA7 TNF
11 vision/eye MP:0005391 9.23 TNF IFNG CHRNA7 ADK GSR IL6

Drugs & Therapeutics for Rasmussen Encephalitis

Drugs for Rasmussen Encephalitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492
2 Rho(D) Immune Globulin Phase 2, Phase 3
3 gamma-Globulins Phase 2, Phase 3
4 Antibodies Phase 2, Phase 3
5 Immunoglobulins Phase 2, Phase 3
6 Immunoglobulins, Intravenous Phase 2, Phase 3
7 Immunosuppressive Agents Phase 2, Phase 3
8 Calcineurin Inhibitors Phase 2, Phase 3
9
rituximab Approved Phase 1 174722-31-7 10201696
10 Antirheumatic Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Tacrolimus and I.V.-Immunoglobulins in Rasmussen Encephalitis Unknown status NCT00545493 Phase 2, Phase 3 Tacrolimus;i.v. immunoglobulins
2 A Pilot Study of the Use of Rituximab in the Treatment of Chronic Focal Encephalitis Completed NCT00259805 Phase 1 Rituximab

Search NIH Clinical Center for Rasmussen Encephalitis

Genetic Tests for Rasmussen Encephalitis

Anatomical Context for Rasmussen Encephalitis

MalaCards organs/tissues related to Rasmussen Encephalitis:

41
Brain, T Cells

Publications for Rasmussen Encephalitis

Articles related to Rasmussen Encephalitis:

(show top 50) (show all 106)
# Title Authors Year
1
Phenotypic and functional complexity of brain-infiltrating T cells in Rasmussen encephalitis. ( 29259996 )
2018
2
Upregulation of Neuronal Adenosine A1 Receptor in Human Rasmussen Encephalitis. ( 28789481 )
2017
3
Rasmussen Encephalitis. ( 28042372 )
2017
4
Adult-onset Rasmussen encephalitis associated with focal cortical dysplasia. ( 29258971 )
2017
5
Refractory status epilepticus secondary to atypical Rasmussen encephalitis successfully managed with aggressive immunotherapy. ( 29849226 )
2017
6
Late-onset Rasmussen Encephalitis: A literature appraisal. ( 28572051 )
2017
7
Functional Hemispherectomy for Adult Rasmussen Encephalitis: A Case Report and Literature Review. ( 29091250 )
2017
8
Alemtuzumab and intrathecal methotrexate failed in the therapy of Rasmussen encephalitis. ( 28534039 )
2017
9
Transcranial direct current stimulation improves seizure control in patients with Rasmussen encephalitis. ( 26842560 )
2016
10
Late onset Rasmussen encephalitis: complete remission after one session of plasmapheresis. ( 26918748 )
2016
11
Evidence for Resident Memory T Cells in Rasmussen Encephalitis. ( 26941743 )
2016
12
Absence of seizures in Rasmussen encephalitis with active inflammation. ( 26775150 )
2016
13
Teaching NeuroImages: Radiographic progression in late-onset Rasmussen encephalitis. ( 27597560 )
2016
14
Rasmussen encephalitis tissue transfer program. ( 27286752 )
2016
15
Shared HLA Class I and II Alleles and Clonally Restricted Public and Private Brain-Infiltrating I+I^ T Cells in a Cohort of Rasmussen Encephalitis Surgery Patients. ( 28066418 )
2016
16
Evidence for Resident Memory T cells in Rasmussen Encephalitis. ( 27397698 )
2016
17
CD8(+) T-cell pathogenicity in Rasmussen encephalitis elucidated by large-scale T-cell receptor sequencing. ( 27040081 )
2016
18
Language recovery after left hemispherotomy for Rasmussen encephalitis. ( 26519666 )
2015
19
The dilemma of adult-onset Rasmussen encephalitis clinical assessment: Proposal for a new bedside tool to evaluate disease progression. ( 25960424 )
2015
20
Crossed Cerebellar Diaschisis Due to Rasmussen Encephalitis. ( 26105956 )
2015
21
In Rasmussen encephalitis, hemichannels associated with microglial activation are linked to cortical pyramidal neuron coupling: a possible mechanism for cellular hyperexcitability. ( 25438677 )
2015
22
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? ( 26082956 )
2015
23
Teaching NeuroImages: Diffusion tensor tractography of cortico-ponto-cerebellar pathways in Rasmussen encephalitis. ( 26170405 )
2015
24
Pediatric anti-Hu-associated encephalitis with clinical features of Rasmussen encephalitis. ( 26445726 )
2015
25
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? ( 25901061 )
2015
26
Evidence for the involvement of gamma delta T cells in the immune response in Rasmussen encephalitis. ( 26186920 )
2015
27
Rasmussen encephalitis: Response to early immunotherapy in a case of immune-mediated encephalitis. ( 25738166 )
2015
28
Rasmussen encephalitis with dual pathology in a patient without seizures: case report and literature review. ( 26033376 )
2015
29
Rethinking the Magnetic Resonance Imaging Findings inA EarlyA Rasmussen Encephalitis: A Case Report and Review ofA theA Literature. ( 27004940 )
2015
30
Surgical treatment of patients with Rasmussen encephalitis. ( 24503650 )
2014
31
Editorial comment: The janus of Rasmussen encephalitis: never a friendly face. ( 25149948 )
2014
32
Rasmussen encephalitis: an unusual cause for intractable seizures in elderly. ( 24045872 )
2014
33
Long-term outcome after limited cortical resections in two cases of adult-onset Rasmussen encephalitis. ( 24702622 )
2014
34
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? ( 25142901 )
2014
35
Hemispherotomy in Rasmussen encephalitis: long-term outcome in an Italian series of 16 patients. ( 24815913 )
2014
36
Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES). ( 24639375 )
2014
37
A case of rasmussen encephalitis: the differential diagnoses and role of diagnostic imaging. ( 24498485 )
2014
38
Exceptional verbal intelligence after hemispherotomy in a child with Rasmussen encephalitis. ( 24471481 )
2014
39
Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis. ( 25209083 )
2014
40
Voltage-gated potassium channels autoantibodies in a child with rasmussen encephalitis. ( 25062271 )
2014
41
Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis. ( 23980696 )
2013
42
Differential expression of interferon-I^ and chemokine genes distinguishes Rasmussen encephalitis from cortical dysplasia and provides evidence for an early Th1 immune response. ( 23639073 )
2013
43
Altered transporter-mediated neocortical GABA release in Rasmussen encephalitis. ( 23360283 )
2013
44
Hemiatrophy and seizures: a case of adult-onset Rasmussen encephalitis. ( 23315464 )
2013
45
A role for the CXCR3/CXCL10 axis in Rasmussen encephalitis. ( 24080276 )
2013
46
Clinico-pathological investigations of Rasmussen encephalitis suggest multifocal disease progression and associated focal cortical dysplasia. ( 23531608 )
2013
47
Rasmussen encephalitis. ( 23622199 )
2013
48
Upregulation of adenosine kinase in Rasmussen encephalitis. ( 24128682 )
2013
49
Rasmussen encephalitis: incidence and course under randomized therapy with tacrolimus or intravenous immunoglobulins. ( 23216622 )
2013
50
Rasmussen encephalitis treated with natalizumab. ( 23794679 )
2013

Variations for Rasmussen Encephalitis

Expression for Rasmussen Encephalitis

Search GEO for disease gene expression data for Rasmussen Encephalitis.

Pathways for Rasmussen Encephalitis

Pathways related to Rasmussen Encephalitis according to KEGG:

37
# Name Kegg Source Accession
1 T cell receptor signaling pathway hsa04660

Pathways related to Rasmussen Encephalitis according to GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.46 BMP6 IFNG IL15 IL18 IL4 IL6
2
Show member pathways
12.71 HMGB1 IFNG IL18 IL6 TNF
3
Show member pathways
12.69 IFNG IL15 IL18 IL4 IL6 TNF
4
Show member pathways
12.66 GAD1 GZMB IFNG IL15 IL18 IL4
5
Show member pathways
12.55 IFNG IL15 IL18 IL4 IL6 TNF
6
Show member pathways
12.46 GZMB IFNG IL4 TNF
7
Show member pathways
12.38 IFNG IL4 IL6 TNF
8
Show member pathways
12.36 IFNG IL18 IL4 IL6 TNF
9
Show member pathways
12.28 IFNG IL4 IL6 TNF
10
Show member pathways
12.24 GSR IFNG IL4 IL6 TNF
11
Show member pathways
12.2 IFNG IL18 IL6 TNF
12 12.17 IFNG IL18 IL6 TNF
13
Show member pathways
12.12 IFNG IL4 IL6 TNF
14 12.1 CHRNA7 IL6 SST TNF
15
Show member pathways
11.98 BMP6 IFNG IL15 IL18 IL4 IL6
16 11.95 IFNG IL4 IL6 TNF
17 11.92 IL18 IL4 IL6 TNF
18
Show member pathways
11.9 GZMB IFNG IL18 IL4
19 11.87 IFNG IL15 IL4 IL6 TNF
20 11.84 IL4 IL6 TNF
21 11.83 IFNG IL6 TNF
22 11.78 IFNG IL18 IL6
23 11.77 BMP6 IFNG TNF
24 11.75 IFNG IL4 IL6
25
Show member pathways
11.72 IFNG IL4 TNF
26 11.7 IFNG IL6 TNF
27 11.62 IL4 IL6 TNF
28
Show member pathways
11.61 IFNG IL6 TNF
29 11.61 IFNG IL15 IL18 IL6 TNF
30
Show member pathways
11.59 GZMB IFNG TNF
31 11.54 IL18 IL6 TNF
32 11.49 IFNG IL6 TNF
33 11.46 HMGB1 IL6 TNF
34 11.45 IFNG IL18 TNF
35 11.45 IL18 IL4 IL6 TNF
36 11.42 IFNG IL18 IL6 TNF
37 11.41 IFNG IL6 TNF
38 11.34 GZMB IFNG IL15 IL18 IL4 TNF
39 11.21 IFNG IL18 IL6 TNF
40 11.03 IFNG IL15 IL4 IL6 TNF
41 10.61 IFNG IL15 IL18 IL4 IL6 TNF

GO Terms for Rasmussen Encephalitis

Cellular components related to Rasmussen Encephalitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 BMP6 CCK HMGB1 IFNG IL15 IL18
2 extracellular space GO:0005615 9.32 BMP6 CCK HMGB1 IFNG IL15 IL18
3 voltage-gated sodium channel complex GO:0001518 9.26 SCN1A SCN2B
4 axon initial segment GO:0043194 9.16 CCK SCN1A

Biological processes related to Rasmussen Encephalitis according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.91 CHRNA7 GAD1 SCN2B SST
2 positive regulation of cell proliferation GO:0008284 9.88 BMP6 CCK CHRNA7 IFNG IL15 IL6
3 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.77 CHRNA7 IL6 TNF
4 excitatory postsynaptic potential GO:0060079 9.76 ADORA1 CHRNA7 GRIA3
5 positive regulation of protein phosphorylation GO:0001934 9.76 CHRNA7 HMGB1 IFNG TNF
6 positive regulation of T cell proliferation GO:0042102 9.74 IL15 IL4 IL6
7 humoral immune response GO:0006959 9.72 IFNG IL6 TNF
8 positive regulation of smooth muscle cell proliferation GO:0048661 9.71 IL18 IL6 TNF
9 immune response GO:0006955 9.7 BMP6 IFNG IL15 IL18 IL4 IL6
10 positive regulation of interleukin-6 production GO:0032755 9.67 HMGB1 IL6 TNF
11 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.65 HMGB1 IL18 TNF
12 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.62 IFNG TNF
13 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.62 IFNG IL15 IL18 IL6
14 cardiac muscle cell action potential involved in contraction GO:0086002 9.61 SCN1A SCN2B
15 positive regulation of interleukin-17 production GO:0032740 9.6 IL15 IL18
16 negative regulation of lipid storage GO:0010888 9.58 IL6 TNF
17 positive regulation of natural killer cell proliferation GO:0032819 9.56 IL15 IL18
18 response to glucocorticoid GO:0051384 9.56 BMP6 HMGB1 IL6 TNF
19 type 2 immune response GO:0042092 9.52 IL18 IL4
20 positive regulation of tissue remodeling GO:0034105 9.51 IL15 IL18
21 inflammatory response GO:0006954 9.5 ADORA1 BMP6 HMGB1 IL15 IL18 IL6
22 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.43 IFNG TNF
23 positive regulation of vitamin D biosynthetic process GO:0060557 9.37 IFNG TNF
24 regulation of signaling receptor activity GO:0010469 9.32 BMP6 CCK HMGB1 IFNG IL15 IL18

Molecular functions related to Rasmussen Encephalitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.23 BMP6 HMGB1 IFNG IL15 IL18 IL4

Sources for Rasmussen Encephalitis

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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