MCID: RSM001
MIFTS: 42

Rasmussen Encephalitis malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Rasmussen Encephalitis

About this section

Aliases & Descriptions for Rasmussen Encephalitis:

Name: Rasmussen Encephalitis 48 50
Rasmussen's Encephalitis 49
 
Rasmussen Syndrome 68
Re 48

Classifications:



Summaries for Rasmussen Encephalitis

About this section
NIH Rare Diseases:48 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 encephalitis and myoclonus epilepsy, and has symptoms including seizures An important gene associated with Rasmussen Encephalitis is GRIA3 (Glutamate Ionotropic Receptor AMPA Type Subunit 3), and among its related pathways are IL-9 Signaling Pathways and their Primary Biological Effects in Different Immune Cell Types and Glucocorticoid receptor regulatory network. Affiliated tissues include brain and t cells, and related mouse phenotypes are respiratory system and reproductive system.

NINDS:49 Rasmussen?s encephalitis is a rare, chronic inflammatory neurological disease that usually affects only one hemisphere of the brain.

Related Diseases for Rasmussen Encephalitis

About this section

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 176)
idRelated DiseaseScoreTop Affiliating Genes
1encephalitis10.8
2myoclonus epilepsy10.6IFNG, IL4
36q terminal deletion syndrome10.6IL4, TNF
4eye accommodation disease10.5IFNG, IL4
5aortic arch interruption10.5IL6, TNF
6uveoparotid fever10.5ADK, TNF
7cutaneous leishmaniasis10.5IL6, TNF
8motor peripheral neuropathy10.5IFNG, IL4
9basidiobolomycosis10.5IL4, TNF
10paralytic lagophthalmos10.5IL4, TNF
11baetz-greenwalt syndrome10.5IFNG, TNF
12gastroschisis abdominal wall defects, included10.4BMP6, IFNG
13pelvic varices10.4CCK, SST
14nut allergy10.4IFNG, IL4
15autoimmune pancreatitis10.4IFNG, TNF
16maligant granulosa cell tumor of ovary10.4IL6, TNF
17panner disease10.4IFNG, IL6, TNF
18benign lymphoepithelial lesion of salivary gland10.4IL4, IL6, TNF
19pasteurellosis10.4IFNG, IL6, TNF
20conventional malignant hemangiopericytoma10.4IFNG, IL4, IL6
21mastocytosis cutaneous with short stature conductive hearing loss and microtia10.4IFNG, IL6, TNF
22hemophagocytic lymphohistiocytosis10.4IFNG, IL6, TNF
23leukostasis10.4IFNG, IL6, TNF
24thelaziasis10.4IFNG, IL4
25dementia - subcortical10.4IFNG, IL6, TNF
26lymphangioma10.4IL4, IL6, TNF
27gastric dilatation10.4IFNG, IL6, TNF
28gonococcal synovitis10.4IFNG, IL4, TNF
29bile duct signet ring cell carcinoma10.4IFNG, IL6, TNF
30ehlers-danlos syndrome, musculocontractural type10.4IFNG, IL6, TNF
31primary orthostatic tremor10.4IFNG, IL4, TNF
32lipodermatosclerosis10.4IFNG, IL4, TNF
33corneal intraepithelial neoplasm10.3IFNG, IL6, TNF
34meninges hemangiopericytoma10.3IFNG, IL4, TNF
35pneumonic tularemia10.3IFNG, IL4, TNF
36hemometra10.3IL6, TNF
37reproductive system disease10.3IFNG, IL6, TNF
38atrichia with papular lesions10.3IFNG, IL4, TNF
39cutaneous porphyria10.3IFNG, IL6, TNF
40short bowel syndrome10.3IL6, SST, TNF
41mandibular cancer10.3IL4, IL6, TNF
42malignant histiocytosis10.3IFNG, IL4, TNF
43spondylolysis10.3IFNG, IL6, TNF
44heart leiomyosarcoma10.3IFNG, IL6, TNF
45bartonellosis10.3IFNG, IL4, TNF
46binocular vision disease10.3IFNG, IL4, TNF
47gastric ulcer10.3IFNG, IL6, TNF
48chronic conjunctivitis10.3IFNG, IL4, TNF
49dentinogenesis imperfecta10.3IFNG, IL6, TNF
50tricho odonto onycho dermal syndrome10.3IL6, TNF

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



Diseases related to rasmussen encephalitis

Symptoms & Phenotypes for Rasmussen Encephalitis

About this section

UMLS symptoms related to Rasmussen Encephalitis:


seizures

MGI Mouse Phenotypes related to Rasmussen Encephalitis according to GeneCards Suite gene sharing:

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.7ADK, CHRNA7, GAD1, IFNG, IL4, IL6
2MP:00053898.4BMP6, CHRNA7, GRIA3, IFNG, IL15, IL4
3MP:00030128.4CCK, CHRNA7, GAD1, GRIA3, IFNG, IL4
4MP:00053818.3CHRNA7, GAD1, IFNG, IL18, IL4, IL6
5MP:00053908.2BMP6, CHRNA7, GAD1, IFNG, IL4, IL6
6MP:00053798.1CCK, CHRNA7, GAD1, IFNG, IL15, IL4
7MP:00053917.7ADK, CHRNA7, GSR, IFNG, IL18, IL4
8MP:00036317.2CCK, CHRNA7, GAD1, GRIA3, IFNG, IL18
9MP:00107687.1ADK, CHRNA7, GAD1, GRIA3, IFNG, IL15
10MP:00053867.0CCK, CHRNA7, GAD1, GRIA3, IFNG, IL15
11MP:00053786.7ADK, BMP6, CHRNA7, GAD1, GRIA3, IFNG

Drugs & Therapeutics for Rasmussen Encephalitis

About this section

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tacrolimusapproved, investigationalPhase 2, Phase 31074104987-11-3445643, 439492
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
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
Anhydrous tacrolimus
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
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 (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus anhydrous
Tacrolimus hydrate
Tacrolimus, anhydrous
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
2Immunosuppressive AgentsPhase 2, Phase 312770
3Rho(D) Immune GlobulinPhase 2, Phase 3317
4AntibodiesPhase 2, Phase 36045
5Immunoglobulins, IntravenousPhase 2, Phase 3324
6ImmunoglobulinsPhase 2, Phase 36045
7Calcineurin InhibitorsPhase 2, Phase 31597
8gamma-GlobulinsPhase 2, Phase 3317
9
rituximabapprovedPhase 11654174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
10Antirheumatic AgentsPhase 110627

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy of Tacrolimus and I.V.-Immunoglobulins in Rasmussen EncephalitisUnknown statusNCT00545493Phase 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

About this section

Anatomical Context for Rasmussen Encephalitis

About this section

MalaCards organs/tissues related to Rasmussen Encephalitis:

36
Brain, T cells

Publications for Rasmussen Encephalitis

About this section

Articles related to Rasmussen Encephalitis:

(show top 50)    (show all 99)
idTitleAuthorsYear
1
Rasmussen Encephalitis. (28042372)
2017
2
Absence of seizures in Rasmussen encephalitis with active inflammation. (26775150)
2016
3
Evidence for Resident Memory T Cells in Rasmussen Encephalitis. (26941743)
2016
4
Late onset Rasmussen encephalitis: complete remission after one session of plasmapheresis. (26918748)
2016
5
Teaching NeuroImages: Radiographic progression in late-onset Rasmussen encephalitis. (27597560)
2016
6
Transcranial direct current stimulation improves seizure control in patients with Rasmussen encephalitis. (26842560)
2016
7
Rasmussen encephalitis tissue transfer program. (27286752)
2016
8
Evidence for Resident Memory T cells in Rasmussen Encephalitis. (27397698)
2016
9
CD8(+) T-cell pathogenicity in Rasmussen encephalitis elucidated by large-scale T-cell receptor sequencing. (27040081)
2016
10
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
11
Rethinking the Magnetic Resonance Imaging Findings inA EarlyA Rasmussen Encephalitis: A Case Report and Review ofA theA Literature. (27004940)
2015
12
Crossed Cerebellar Diaschisis Due to Rasmussen Encephalitis. (26105956)
2015
13
Evidence for the involvement of gamma delta T cells in the immune response in Rasmussen encephalitis. (26186920)
2015
14
Rasmussen encephalitis: Response to early immunotherapy in a case of immune-mediated encephalitis. (25738166)
2015
15
In Rasmussen encephalitis, hemichannels associated with microglial activation are linked to cortical pyramidal neuron coupling: a possible mechanism for cellular hyperexcitability. (25438677)
2015
16
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? (26082956)
2015
17
Pediatric anti-Hu-associated encephalitis with clinical features of Rasmussen encephalitis. (26445726)
2015
18
Language recovery after left hemispherotomy for Rasmussen encephalitis. (26519666)
2015
19
Teaching NeuroImages: Diffusion tensor tractography of cortico-ponto-cerebellar pathways in Rasmussen encephalitis. (26170405)
2015
20
The dilemma of adult-onset Rasmussen encephalitis clinical assessment: Proposal for a new bedside tool to evaluate disease progression. (25960424)
2015
21
Rasmussen encephalitis with dual pathology in a patient without seizures: case report and literature review. (26033376)
2015
22
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? (25901061)
2015
23
Hemispherotomy in Rasmussen encephalitis: long-term outcome in an Italian series of 16 patients. (24815913)
2014
24
Exceptional verbal intelligence after hemispherotomy in a child with Rasmussen encephalitis. (24471481)
2014
25
Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis. (25209083)
2014
26
Rasmussen encephalitis: an unusual cause for intractable seizures in elderly. (24045872)
2014
27
A case of rasmussen encephalitis: the differential diagnoses and role of diagnostic imaging. (24498485)
2014
28
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? (25142901)
2014
29
Long-term outcome after limited cortical resections in two cases of adult-onset Rasmussen encephalitis. (24702622)
2014
30
Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES). (24639375)
2014
31
Voltage-gated potassium channels autoantibodies in a child with rasmussen encephalitis. (25062271)
2014
32
Surgical treatment of patients with Rasmussen encephalitis. (24503650)
2014
33
Editorial comment: The janus of Rasmussen encephalitis: never a friendly face. (25149948)
2014
34
Altered transporter-mediated neocortical GABA release in Rasmussen encephalitis. (23360283)
2013
35
A role for the CXCR3/CXCL10 axis in Rasmussen encephalitis. (24080276)
2013
36
Rasmussen encephalitis. (23622199)
2013
37
Rasmussen encephalitis treated with natalizumab. (23794679)
2013
38
Clinico-pathological investigations of Rasmussen encephalitis suggest multifocal disease progression and associated focal cortical dysplasia. (23531608)
2013
39
Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis. (23980696)
2013
40
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
41
Rasmussen encephalitis: incidence and course under randomized therapy with tacrolimus or intravenous immunoglobulins. (23216622)
2013
42
Hemiatrophy and seizures: a case of adult-onset Rasmussen encephalitis. (23315464)
2013
43
Upregulation of adenosine kinase in Rasmussen encephalitis. (24128682)
2013
44
Automated 3D MRI volumetry reveals regional atrophy differences in Rasmussen encephalitis. (22309137)
2012
45
Intimal thickening of meningeal arteries after serial corticectomies for Rasmussen encephalitis. (22401768)
2012
46
Atypical presentation in Rasmussen encephalitis: delayed late-onset periodic epileptic spasms. (21896424)
2011
47
Early add-on immunoglobulin administration in Rasmussen encephalitis: the hypothesis of neuroimmunomodulation. (21885203)
2011
48
Bilateral Rasmussen encephalitis. (21216675)
2011
49
Parry-Romberg syndrome and Rasmussen encephalitis: possible association. Clinical and neuroimaging features. (19555404)
2011
50
Rasmussen encephalitis with ipsilateral brain stem involvement in an adult patient. (21686702)
2009

Variations for Rasmussen Encephalitis

About this section

Expression for genes affiliated with Rasmussen Encephalitis

About this section
Search GEO for disease gene expression data for Rasmussen Encephalitis.

Pathways for genes affiliated with Rasmussen Encephalitis

About this section

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

(show all 38)
idSuper pathwaysScoreTop Affiliating Genes
19.9IL4, IL6
29.6IFNG, IL4, IL6
39.6IL4, IL6, TNF
49.6IL4, IL6, TNF
59.6IFNG, IL6, TNF
69.6IFNG, IL6, TNF
79.6IFNG, IL6, TNF
89.6IFNG, IL6, TNF
9
Show member pathways
9.5IFNG, IL4, TNF
10
Show member pathways
9.4IFNG, IL18, IL6
119.4IL18, IL6, TNF
129.4IL15, IL6, TNF
139.4IFNG, IL18, TNF
149.3CHRNA7, IL6, SST, TNF
15
Show member pathways
9.3GZMB, IFNG, TNF
16
Show member pathways
9.3IFNG, IL4, IL6, TNF
179.3IFNG, IL4, IL6, TNF
189.1IFNG, IL18, IL6, TNF
199.1IFNG, IL18, IL6, TNF
20
Show member pathways
9.1IFNG, IL18, IL6, TNF
21
Show member pathways
9.1IFNG, IL18, IL6, TNF
229.1IFNG, IL18, IL6, TNF
23
Show member pathways
9.1GZMB, IFNG, IL4, IL6
24
Show member pathways
9.0GZMB, IFNG, IL4, TNF
259.0GZMB, IFNG, IL4, TNF
269.0GAD1, GRIA3, SCN1A, SCN2B
27
Show member pathways
8.9GZMB, IFNG, IL18, IL4
28
Show member pathways
8.8GZMB, IFNG, IL15, TNF
298.7IFNG, IL15, IL4, IL6, TNF
308.7IFNG, IL15, IL4, IL6, TNF
318.6IFNG, IL15, IL18, IL6, TNF
32
Show member pathways
8.3IFNG, IL15, IL18, IL4, IL6, TNF
33
Show member pathways
8.3IFNG, IL15, IL18, IL4, IL6, TNF
34
Show member pathways
8.2BMP6, IFNG, IL15, IL18, IL4, IL6
358.2BMP6, IL15, IL18, IL4, IL6, TNF
368.0GZMB, IFNG, IL15, IL18, IL4, TNF
37
Show member pathways
7.9BMP6, IFNG, IL15, IL18, IL4, IL6
38
Show member pathways
6.9GAD1, GZMB, IFNG, IL15, IL18, IL4

GO Terms for genes affiliated with Rasmussen Encephalitis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1axon initial segmentGO:004319410.6CCK, SCN1A
2voltage-gated sodium channel complexGO:000151810.0SCN1A, SCN2B
3external side of plasma membraneGO:00098979.1CHRNA7, GSR, IFNG, IL4, IL6, TNF
4extracellular regionGO:00055768.7CCK, IFNG, IL15, IL18, IL6, SST
5extracellular spaceGO:00056157.5BMP6, CCK, IFNG, IL15, IL18, IL4

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

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1neutrophil apoptotic processGO:000178110.6IFNG, IL6
2epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.6IL6, TNF
3negative regulation of lipid storageGO:001088810.6IL6, TNF
4positive regulation of isotype switching to IgG isotypesGO:004830410.6IFNG, IL4
5positive regulation of MHC class II biosynthetic processGO:004534810.6IFNG, IL4
6negative regulation of growth of symbiont in hostGO:004413010.5IFNG, TNF
7positive regulation of calcidiol 1-monooxygenase activityGO:006055910.5IFNG, TNF
8positive regulation of mononuclear cell migrationGO:007167710.5IL4, TNF
9positive regulation of vitamin D biosynthetic processGO:006055710.4IFNG, TNF
10defense response to protozoanGO:004283210.4IFNG, IL4, IL6
11humoral immune responseGO:000695910.3IFNG, IL6, TNF
12positive regulation of sequence-specific DNA binding transcription factor activityGO:005109110.2IL4, IL6, TNF
13positive regulation of chemokine biosynthetic processGO:004508010.2IFNG, IL4, TNF
14positive regulation of peptidyl-tyrosine phosphorylationGO:005073110.2CCK, IL4, IL6
15positive regulation of nitric oxide biosynthetic processGO:004542910.2IFNG, IL6, TNF
16positive regulation of interleukin-17 productionGO:003274010.2IL15, IL18
17positive regulation of natural killer cell proliferationGO:003281910.2IL15, IL18
18positive regulation of neuron differentiationGO:004566610.2BMP6, IFNG, IL6
19positive regulation of tissue remodelingGO:003410510.1IL15, IL18
20positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.9IL15, IL18, IL6
21positive regulation of gene expressionGO:00106289.8IFNG, IL18, IL6, TNF
22type 2 immune responseGO:00420929.7IL18, IL4
23chemical synaptic transmissionGO:00072689.7GAD1, GRIA3, SCN2B, SST
24response to glucocorticoidGO:00513849.6BMP6, IL6, TNF
25positive regulation of T cell proliferationGO:00421029.5ADK, IFNG, IL15, IL4, IL6
26inflammatory responseGO:00069549.2BMP6, IL15, IL18, IL6, TNF
27positive regulation of cell proliferationGO:00082849.1CCK, CHRNA7, IFNG, IL15, IL4, IL6
28response to drugGO:00424939.0GAD1, IFNG, IL4, IL6, SST

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051257.9BMP6, IFNG, IL15, IL18, IL4, IL6

Sources for Rasmussen Encephalitis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet