MCID: RSM001
MIFTS: 36

Rasmussen Encephalitis malady

Rare diseases, Neuronal diseases categories

Aliases & Classifications for Rasmussen Encephalitis

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Sources:
45NIH Rare Diseases, 47Novoseek, 65UMLS, 46NINDS
See all sources

Aliases & Descriptions for Rasmussen Encephalitis:

Name: Rasmussen Encephalitis 45 47
Rasmussen's Encephalitis 46
 
Rasmussen Syndrome 65
Re 45


Classifications:



Summaries for Rasmussen Encephalitis

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NIH Rare Diseases:45 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. last updated: 3/22/2012

MalaCards based summary: Rasmussen Encephalitis, also known as rasmussen's encephalitis, is related to scleroderma and encephalitis. An important gene associated with Rasmussen Encephalitis is GRIA3 (Glutamate Receptor, Ionotropic, AMPA 3), and among its related pathways are IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types and . Affiliated tissues include brain and t cells, and related mouse phenotypes are no phenotypic analysis and digestive/alimentary.

NINDS:46 Rasmussen?s encephalitis is a rare, chronic inflammatory neurological disease that usually affects only one hemisphere of the brain.

Related Diseases for Rasmussen Encephalitis

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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 163)
idRelated DiseaseScoreTop Affiliating Genes
1scleroderma30.5IFNG, IL4, TNF
2encephalitis11.2
3neuronitis10.3
4epilepsy syndrome10.3
5linear scleroderma10.3
6duodenal obstruction10.3CCK, SST
7humero-ulnar synostosis10.3IL18, IL6
8pancreatic colloid cystadenocarcinoma10.2CCK, IL18, SST
9eosinophilic mastitis10.2BMP6, IFNG
10intellectual disability-obesity-prognathism-eye and skin anomalies syndrome10.2IFNG, IL15
11myd88 deficiency10.2IFNG, IL4
12anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.2
13mucolipidosis ii alpha/beta10.2
14speech and communication disorders10.2
15brain injury10.2
16tuberous sclerosis10.2
17status epilepticus10.2
18cerebritis10.2
19gliomatosis cerebri10.2
20viral encephalitis10.2
21central nervous system disease10.2
22meningitis10.2
23porphyria10.2
24prion disease10.2
25vasculitis10.2
26febrile infection-related epilepsy syndrome10.2
27weber syndrome10.2
28cerebral atrophy10.2
29encephalopathy10.2
30myoclonus10.2
31seizure disorder10.2
32sensorineural hearing loss10.2IFNG, IL4
33ohtahara syndrome10.2IFNG, IL18
34primary progressive freezing gait10.2IL4, TNF
35alternating exotropia10.2IFNG, IL4
36crohn's disease10.2IL6, TNF
37hairy tongue10.2CCK, IL18, IL6, SST
38aorta atresia10.1IL6, TNF
39plantar nerve lesion10.1IL6, TNF
40melioidosis10.1IFNG, IL18, IL6
41malignant sertoli-leydig cell tumor of ovary10.1IL6, TNF
42stalker chitayat syndrome10.1IL18, IL6, TNF
43henoch-schoenlein purpura10.1IL18, IL6, TNF
44endocervicitis10.1IL18, IL6, TNF
45childhood kidney angiomyolipoma10.1CCK, SST
46bullous retinoschisis10.1ADK, TNF
47intrapelvic lymph node leukemic reticuloendotheliosis10.1IL4, TNF
48leukomelanoderma mental redardation hypotrichosis10.1IL18, IL6, TNF
49stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features10.1IFNG, TNF
50hemifacial spasm10.1CCK, SCN1A, TNF

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



Diseases related to rasmussen encephalitis

Symptoms for Rasmussen Encephalitis

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Drugs & Therapeutics for Rasmussen Encephalitis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tacrolimusapproved, investigationalPhase 2, Phase 3992104987-11-3445643, 439492, 445647, 439492, 445647
Synonyms:
(-)-FK 506
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone
104987-11-3
109581-93-3 (Hydrate)
15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,
3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone
8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN
8-DEETHYL-8-[but-3-enyl]-ascomycin
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
BCBcMAP01_000194
BRD-K35452788-001-02-1
BSPBio-001279
BSPBio_001279
Bio-0921
Bio2_000470
Bio2_000950
C01375
C44H69NO10
CCRIS 7124
CHEBI:100924
CHEBI:61049
CHEMBL1200738
CID11158639
CID11556866
CID439492
CID445643
CID5372
CID5472317
CID6426916
CID6436007
CID6473866
CID6536850
CID6610362
CID6912836
CID9832283
CID9853905
CID9918805
CID9940643
CID9963169
CPD-10016
CPD000466356
D08556
DB00864
DivK1c_001040
FK 506
FK-506
FK5
FK506
FR 900506
FR-900506
FR900506
 
FT-0082660
Fk-506
Fujimycin
Graceptor
HMS1362O21
HMS1792O21
HMS1990O21
HMS2051C18
HMS2093M19
HMS503O21
Hecoria
IDI1_001040
IDI1_002225
K506
KBio1_001040
KBio2_000619
KBio2_003187
KBio2_005755
KBio3_001097
KBio3_001098
KBioGR_000619
KBioSS_000619
L 679934
L-679934
LCP-Tacro
LMPK04000003
LS-64247
MLS000759471
MLS001424054
Modigraf
MolPort-003-666-518
NCGC00163470-01
NCGC00163470-02
NCGC00163470-03
NCGC00163470-04
NCGC00179232-01
NChemBio.2007.16-comp1
NINDS_001040
NSC717865
Prograf
Prograf (TN)
Protopic
Protopy
S5003_Selleck
SAM001246677
SMR000466356
Tacarolimus
Tacrolimus
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus Hydrate
Tacrolimus anhydrous
Tacrolimus hydrate
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
2Rho(D) Immune GlobulinPhase 2, Phase 3198
3Immunoglobulins, IntravenousPhase 2, Phase 3203
4
rituximabapprovedPhase 11514174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy of Tacrolimus and I.V.-Immunoglobulins in Rasmussen EncephalitisActive, not recruitingNCT00545493Phase 2, Phase 3
2A Pilot Study of the Use of Rituximab in the Treatment of Chronic Focal EncephalitisCompletedNCT00259805Phase 1

Search NIH Clinical Center for Rasmussen Encephalitis

Genetic Tests for Rasmussen Encephalitis

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Anatomical Context for Rasmussen Encephalitis

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MalaCards organs/tissues related to Rasmussen Encephalitis:

33
Brain, T cells

Animal Models for Rasmussen Encephalitis or affiliated genes

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MGI Mouse Phenotypes related to Rasmussen Encephalitis:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.5CCK, GAD1, GRIA3, IFNG, IL4, SST
2MP:00053818.4GAD1, IFNG, IL18, IL4, IL6, SST
3MP:00053918.2ADK, GSR, IFNG, IL18, IL4, IL6
4MP:00053888.0ADK, CHRNA7, GAD1, IFNG, IL4, IL6
5MP:00053867.3CHRNA7, GAD1, GRIA3, IFNG, IL18, IL6
6MP:00053897.2BMP6, CHRNA7, GRIA3, IFNG, IL15, IL4
7MP:00053876.8CHRNA7, GZMB, IFNG, IL15, IL18, IL4
8MP:00036316.7CCK, CHRNA7, GAD1, GRIA3, IFNG, IL18
9MP:00053766.6ADK, CCK, CHRNA7, GAD1, GZMB, IFNG
10MP:00107686.1ADK, CHRNA7, GAD1, GRIA3, GZMB, IFNG
11MP:00053786.0ADK, BMP6, GAD1, GRIA3, IFNG, IL15

Publications for Rasmussen Encephalitis

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Articles related to Rasmussen Encephalitis:

(show top 50)    (show all 86)
idTitleAuthorsYear
1
Pediatric anti-Hu-associated encephalitis with clinical features of Rasmussen encephalitis. (26445726)
2015
2
Language recovery after left hemispherotomy for Rasmussen encephalitis. (26519666)
2015
3
Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES). (24639375)
2014
4
Voltage-gated potassium channels autoantibodies in a child with rasmussen encephalitis. (25062271)
2014
5
Surgical treatment of patients with Rasmussen encephalitis. (24503650)
2014
6
Hemispherotomy in Rasmussen encephalitis: long-term outcome in an Italian series of 16 patients. (24815913)
2014
7
Exceptional verbal intelligence after hemispherotomy in a child with Rasmussen encephalitis. (24471481)
2014
8
Editorial comment: The janus of Rasmussen encephalitis: never a friendly face. (25149948)
2014
9
Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis. (25209083)
2014
10
Rasmussen encephalitis. (23622199)
2013
11
Rasmussen encephalitis treated with natalizumab. (23794679)
2013
12
Altered transporter-mediated neocortical GABA release in Rasmussen encephalitis. (23360283)
2013
13
Clinico-pathological investigations of Rasmussen encephalitis suggest multifocal disease progression and associated focal cortical dysplasia. (23531608)
2013
14
Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis. (23980696)
2013
15
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
16
Rasmussen encephalitis: incidence and course under randomized therapy with tacrolimus or intravenous immunoglobulins. (23216622)
2013
17
Hemiatrophy and seizures: a case of adult-onset Rasmussen encephalitis. (23315464)
2013
18
Automated 3D MRI volumetry reveals regional atrophy differences in Rasmussen encephalitis. (22309137)
2012
19
Early add-on immunoglobulin administration in Rasmussen encephalitis: the hypothesis of neuroimmunomodulation. (21885203)
2011
20
Bilateral Rasmussen encephalitis. (21216675)
2011
21
Perfusion SPECT findings in a suspected case of Rasmussen encephalitis. (19021826)
2009
22
Diffusion tensor imaging and tractography of Rasmussen encephalitis. (19390848)
2009
23
Rasmussen encephalitis with ipsilateral brain stem involvement in an adult patient. (21686702)
2009
24
Dissociation of epileptic and inflammatory activity in Rasmussen Encephalitis. (19121924)
2009
25
CD8+ T-cell clones dominate brain infiltrates in Rasmussen encephalitis and persist in the periphery. (19179379)
2009
26
Adult onset chronic unihemispheric vasculitis resembling Rasmussen encephalitis. (19741437)
2009
27
Treatment of Rasmussen encephalitis half a century after its initial description: promising prospects and a dilemma. (19615863)
2009
28
Rasmussen encephalitis. (18454904)
2008
29
Autoantibodies to Munc18, cerebral plasma cells and B-lymphocytes in Rasmussen encephalitis. (18440783)
2008
30
Acute intermittent porphyria, Rasmussen encephalitis, or both? (17608316)
2007
31
Gliomatosis cerebri mimicking Rasmussen encephalitis. Case report. (18459886)
2007
32
Rasmussen encephalitis with ipsilateral brain stem involvement in an adult patient. (17229752)
2007
33
Parry Romberg syndrome and linear scleroderma en coup de sabre mimicking Rasmussen encephalitis. (18071151)
2007
34
Slowly progressive hemiparesis in childhood as a consequence of Rasmussen encephalitis without or with delayed-onset seizures. (17388985)
2007
35
Parry Romberg syndrome and linear scleroderma in coup de sabre mimicking Rasmussen encephalitis. (17438222)
2007
36
Ictal hemodynamic changes in late-onset rasmussen encephalitis. (16437569)
2006
37
Putaminal involvement in Rasmussen encephalitis. (16710657)
2006
38
Neuropathological spectrum of Rasmussen encephalitis. (16010051)
2005
39
Pathogenesis, diagnosis and treatment of Rasmussen encephalitis: a European consensus statement. (15689357)
2005
40
An open study of tacrolimus therapy in Rasmussen encephalitis. (15184626)
2004
41
Rasmussen encephalitis. (15096412)
2004
42
Longitudinal study of MRS metabolites in Rasmussen encephalitis. (15069020)
2004
43
Rasmussen encephalitis with active inflammation and delayed seizures onset. (15037707)
2004
44
Late language transfer in patients with Rasmussen encephalitis. (12790905)
2003
45
Rasmussen encephalitis associated with Parry-Romberg syndrome. (12913207)
2003
46
MRI volumetric analysis in rasmussen encephalitis: a longitudinal study. (12558582)
2003
47
Rasmussen encephalitis: a clinicopathologic and immunohistochemical study of seven patients. (12090428)
2002
48
Ultrastructural study of Rasmussen encephalitis. (12396238)
2002
49
Magnetic resonance and positron emission tomography changes during the clinical progression of Rasmussen encephalitis. (10800268)
2000
50
Evidence for glutamate receptor autoimmunity in the pathogenesis of Rasmussen encephalitis. (10514842)
1999

Variations for Rasmussen Encephalitis

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Expression for genes affiliated with Rasmussen Encephalitis

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Search GEO for disease gene expression data for Rasmussen Encephalitis.

Pathways for genes affiliated with Rasmussen Encephalitis

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

(show all 32)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9IL4, IL6
2
Salmonella infection (KEGG)
Show member pathways
9.6IL4, IL6
39.6IL18, IL6, TNF
49.5IFNG, IL4, IL6
59.5IFNG, IL18, TNF
69.5IL4, IL6, TNF
79.4IFNG, IL6, TNF
89.4IFNG, IL6, TNF
99.4IFNG, IL6, TNF
10
Show member pathways
9.4IFNG, IL4, TNF
119.3CHRNA7, IL6, SST, TNF
12
Show member pathways
9.2GZMB, IFNG, TNF
139.2IFNG, IL18, IL6, TNF
14
Show member pathways
9.2IFNG, IL18, IL6, TNF
159.2IFNG, IL18, IL6, TNF
16
Show member pathways
9.2IFNG, IL18, IL6, TNF
179.2IFNG, IL18, IL6, TNF
18
TGF-beta signaling pathway (KEGG)
Show member pathways
9.2IFNG, IL18, IL6, TNF
19
Show member pathways
9.1GZMB, IFNG, IL18, IL4
209.1GAD1, GRIA3, SCN1A, SCN2B
21
Show member pathways
9.1IFNG, IL4, IL6, TNF
229.1IFNG, IL4, IL6, TNF
23
Show member pathways
9.0GZMB, IFNG, IL4, IL6
248.9GZMB, IFNG, IL4, TNF
25
Show member pathways
8.9GSR, IFNG, IL6, TNF
26
Show member pathways
8.7IFNG, IL15, IL4, IL6
27
Show member pathways
8.4GZMB, IFNG, IL15, TNF
288.4IFNG, IL15, IL18, IL6, TNF
298.3IFNG, IL15, IL4, IL6, TNF
30
Show member pathways
8.0IFNG, IL15, IL18, IL4, IL6, TNF
31
Show member pathways
8.0IFNG, IL15, IL18, IL4, IL6, TNF
32
Show member pathways
7.0GAD1, GZMB, IFNG, IL15, IL18, IL4

GO Terms for genes affiliated with Rasmussen Encephalitis

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel complexGO:000151810.6SCN1A, SCN2B
2axon initial segmentGO:004319410.6CCK, SCN1A
3external side of plasma membraneGO:00098978.8CHRNA7, GSR, IFNG, IL4, IL6, TNF
4extracellular regionGO:00055767.3CCK, IFNG, IL15, IL18, IL4, IL6
5extracellular spaceGO:00056157.1BMP6, CCK, IFNG, IL15, IL18, IL4

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1type 2 immune responseGO:004209210.6IL18, IL4
2neutrophil apoptotic processGO:000178110.6IFNG, IL6
3epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.5IL6, TNF
4negative regulation of lipid storageGO:001088810.4IL6, TNF
5positive regulation of mononuclear cell migrationGO:007167710.4IL4, TNF
6positive regulation of vitamin D biosynthetic processGO:006055710.4IFNG, TNF
7positive regulation of MHC class II biosynthetic processGO:004534810.4IFNG, IL4
8positive regulation of calcidiol 1-monooxygenase activityGO:006055910.4IFNG, TNF
9positive regulation of isotype switching to IgG isotypesGO:004830410.3IFNG, IL4
10positive regulation of membrane protein ectodomain proteolysisGO:005104410.3IFNG, TNF
11negative regulation of growth of symbiont in hostGO:004413010.2IFNG, TNF
12positive regulation of natural killer cell proliferationGO:003281910.1IL15, IL18
13positive regulation of tissue remodelingGO:003410510.1IL15, IL18
14positive regulation of interleukin-17 productionGO:003274010.1IL15, IL18
15defense response to protozoanGO:004283210.0IFNG, IL4, IL6
16positive regulation of peptidyl-tyrosine phosphorylationGO:005073110.0CCK, IL4, IL6
17positive regulation of sequence-specific DNA binding transcription factor activityGO:005109110.0IL4, IL6, TNF
18positive regulation of chemokine biosynthetic processGO:004508010.0IFNG, IL4, TNF
19humoral immune responseGO:000695910.0IFNG, IL6, TNF
20response to glucocorticoidGO:00513849.7BMP6, IL6, TNF
21positive regulation of nitric oxide biosynthetic processGO:00454299.7IFNG, IL6, TNF
22positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.6IL15, IL18, IL6
23cellular response to lipopolysaccharideGO:00712229.5IFNG, IL18, IL6, TNF
24positive regulation of neuron differentiationGO:00456669.3BMP6, IFNG, IL6
25positive regulation of gene expressionGO:00106289.2IFNG, IL18, IL6, TNF
26positive regulation of T cell proliferationGO:00421028.9IFNG, IL15, IL4, IL6
27synaptic transmissionGO:00072688.6CHRNA7, GAD1, GRIA3, SCN2B, SST
28inflammatory responseGO:00069548.5BMP6, IL15, IL18, IL6, TNF
29positive regulation of cell proliferationGO:00082848.3CCK, CHRNA7, IFNG, IL15, IL4, IL6
30immune responseGO:00069557.8BMP6, IFNG, IL15, IL18, IL4, IL6

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051257.5BMP6, IFNG, IL15, IL18, IL4, IL6

Sources for Rasmussen Encephalitis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet