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 46 48
Rasmussen's Encephalitis 47
 
Rasmussen Syndrome 66
Re 46

Classifications:



Summaries for Rasmussen Encephalitis

About this section
NIH Rare Diseases:46 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 pelvic varices, 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 Hypertrophy Model and Salmonella infection (KEGG). Affiliated tissues include brain and t cells, and related mouse phenotypes are liver/biliary system and respiratory system.

NINDS:47 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 199)
idRelated DiseaseScoreTop Affiliating Genes
1encephalitis10.9
2pelvic varices10.6CCK, SST
3gastroschisis abdominal wall defects, included10.5BMP6, IFNG
4uveoparotid fever10.4ADK, TNF
5baetz-greenwalt syndrome10.4IFNG, TNF
6pancreatic cystadenocarcinoma10.4CCK, SST
7autoimmune pancreatitis10.4IFNG, TNF
8ferro-cerebro-cutaneous syndrome10.4IFNG, IL15
9peripheral epithelioid sarcoma10.4CCK, SST
10hypohidrosis10.3BMP6, CCK
11graft-versus-host disease, protection against10.3IFNG, TNF
12primary systemic mycosis10.3IFNG, TNF
13midline interhemispheric variant of holoprosencephaly10.3IL18, IL6
14steatorrhea10.3IFNG, IL18, TNF
15renal tubular acidosis10.2IFNG, IL18, TNF
16keratosis10.2IFNG, IL18, TNF
17partial of retinal vein occlusion10.2CCK, SST, TNF
18myoclonus epilepsy10.2IFNG, IL4
19inflammatory bowel disease 310.2IFNG, IL18, TNF
20hereditary neuropathies10.2CCK, SCN1A, TNF
21melioidosis10.2IFNG, IL18, IL6
22aortic arch interruption10.2IL6, TNF
23hepatitis b10.1IFNG, IL18, TNF
24eye accommodation disease10.1IFNG, IL4
25cutaneous leishmaniasis10.1IL6, TNF
26motor peripheral neuropathy10.1IFNG, IL4
27maligant granulosa cell tumor of ovary10.1IL6, TNF
28nut allergy10.1IFNG, IL4
29hemometra10.1IL6, TNF
30tricho odonto onycho dermal syndrome10.1IL6, TNF
31thelaziasis10.1IFNG, IL4
32iron metabolism disease10.1IFNG, IL18, IL6
33scrotum paget's disease10.1IL6, TNF
34addison's disease10.0IFNG, TNF
35neuronitis10.0
36linear scleroderma10.0
37pulmonary systemic sclerosis10.0BMP6, IFNG, TNF
38epstein-barr virus hepatitis10.0IL6, TNF
39qualitative platelet defect10.0IL18, IL6, TNF
40sterility due to immotile flagella10.0IL18, IL6, TNF
41abdominal chemodectomas with cutaneous angiolipomas10.0IL6, TNF
426q terminal deletion syndrome10.0IL4, TNF
43oral candidiasis10.0IL18, IL6, TNF
44vertebral artery insufficiency10.0IL18, IL6, TNF
45leukoplakia10.0IL18, IL6, TNF
46antigen-peptide-transporter 2 deficiency10.0IL6, TNF
47goat milk allergy10.0IFNG, IL4
48isolated congenital auditory ossicle malformation10.0IL18, IL6, TNF
49neurogenic bowel10.0IL18, IL6, TNF
50basidiobolomycosis9.9IL4, TNF

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



Diseases related to rasmussen encephalitis

Symptoms for Rasmussen Encephalitis

About this section

UMLS symptoms related to Rasmussen Encephalitis:


seizures

Drugs & Therapeutics for Rasmussen Encephalitis

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
TacrolimusPhase 2, Phase 31058104987-11-3445643, 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
2
rituximabPhase 11611174722-31-710201696
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

About this section

Anatomical Context for Rasmussen Encephalitis

About this section

MalaCards organs/tissues related to Rasmussen Encephalitis:

34
Brain, T cells

Animal Models for Rasmussen Encephalitis or affiliated genes

About this section

MGI Mouse Phenotypes related to Rasmussen Encephalitis:

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.9ADK, CHRNA7, IFNG, IL4, IL6, TNF
2MP:00053887.8ADK, CHRNA7, IFNG, IL4, IL6, TNF
3MP:00030127.7CCK, CHRNA7, GRIA3, IFNG, IL4, SST
4MP:00053817.5CHRNA7, IFNG, IL18, IL4, IL6, SST
5MP:00053917.2ADK, CHRNA7, IFNG, IL18, IL4, IL6
6MP:00053907.0BMP6, CHRNA7, IFNG, IL4, IL6, SST
7MP:00053796.9CCK, CHRNA7, IFNG, IL15, IL4, IL6
8MP:00053896.6BMP6, CHRNA7, GRIA3, IFNG, IL15, IL4
9MP:00036316.1CCK, CHRNA7, GRIA3, IFNG, IL18, IL4
10MP:00107686.0ADK, CHRNA7, GRIA3, IFNG, IL15, IL18
11MP:00053865.8CCK, CHRNA7, GRIA3, IFNG, IL15, IL18
12MP:00053785.3ADK, BMP6, CHRNA7, GRIA3, IFNG, IL15

Publications for Rasmussen Encephalitis

About this section

Articles related to Rasmussen Encephalitis:

(show top 50)    (show all 97)
idTitleAuthorsYear
1
Absence of seizures in Rasmussen encephalitis with active inflammation. (26775150)
2016
2
Evidence for Resident Memory T Cells in Rasmussen Encephalitis. (26941743)
2016
3
Late onset Rasmussen encephalitis: complete remission after one session of plasmapheresis. (26918748)
2016
4
Teaching NeuroImages: Radiographic progression in late-onset Rasmussen encephalitis. (27597560)
2016
5
Rethinking the Magnetic Resonance Imaging Findings inA EarlyA Rasmussen Encephalitis: A Case Report and Review ofA theA Literature. (27004940)
2015
6
Crossed Cerebellar Diaschisis Due to Rasmussen Encephalitis. (26105956)
2015
7
Evidence for the involvement of gamma delta T cells in the immune response in Rasmussen encephalitis. (26186920)
2015
8
Rasmussen encephalitis: Response to early immunotherapy in a case of immune-mediated encephalitis. (25738166)
2015
9
In Rasmussen encephalitis, hemichannels associated with microglial activation are linked to cortical pyramidal neuron coupling: a possible mechanism for cellular hyperexcitability. (25438677)
2015
10
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? (26082956)
2015
11
Hemispherotomy in Rasmussen encephalitis: long-term outcome in an Italian series of 16 patients. (24815913)
2014
12
Exceptional verbal intelligence after hemispherotomy in a child with Rasmussen encephalitis. (24471481)
2014
13
Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis. (25209083)
2014
14
Rasmussen encephalitis: an unusual cause for intractable seizures in elderly. (24045872)
2014
15
A case of rasmussen encephalitis: the differential diagnoses and role of diagnostic imaging. (24498485)
2014
16
Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism? (25142901)
2014
17
Long-term outcome after limited cortical resections in two cases of adult-onset Rasmussen encephalitis. (24702622)
2014
18
Altered transporter-mediated neocortical GABA release in Rasmussen encephalitis. (23360283)
2013
19
A role for the CXCR3/CXCL10 axis in Rasmussen encephalitis. (24080276)
2013
20
Rasmussen encephalitis. (23622199)
2013
21
Rasmussen encephalitis treated with natalizumab. (23794679)
2013
22
Automated 3D MRI volumetry reveals regional atrophy differences in Rasmussen encephalitis. (22309137)
2012
23
Atypical presentation in Rasmussen encephalitis: delayed late-onset periodic epileptic spasms. (21896424)
2011
24
Early add-on immunoglobulin administration in Rasmussen encephalitis: the hypothesis of neuroimmunomodulation. (21885203)
2011
25
Rasmussen encephalitis with ipsilateral brain stem involvement in an adult patient. (21686702)
2009
26
Dissociation of epileptic and inflammatory activity in Rasmussen Encephalitis. (19121924)
2009
27
CD8+ T-cell clones dominate brain infiltrates in Rasmussen encephalitis and persist in the periphery. (19179379)
2009
28
Adult onset chronic unihemispheric vasculitis resembling Rasmussen encephalitis. (19741437)
2009
29
Rasmussen encephalitis. (18454904)
2008
30
Rasmussen encephalitis associated with SCN 1 A mutation. (18031552)
2008
31
Acute intermittent porphyria, Rasmussen encephalitis, or both? (17608316)
2007
32
Gliomatosis cerebri mimicking Rasmussen encephalitis. Case report. (18459886)
2007
33
Parry Romberg syndrome and linear scleroderma in coup de sabre mimicking Rasmussen encephalitis. (17438222)
2007
34
Long term response to steroid therapy in Rasmussen encephalitis. (17408981)
2007
35
Ictal hemodynamic changes in late-onset rasmussen encephalitis. (16437569)
2006
36
Putaminal involvement in Rasmussen encephalitis. (16710657)
2006
37
Neuropathological spectrum of Rasmussen encephalitis. (16010051)
2005
38
Alpha7-acetylcholine receptor antibodies in two patients with Rasmussen encephalitis. (16344526)
2005
39
MRI brain volumetry in Rasmussen encephalitis: the fate of affected and "unaffected" hemispheres. (15753429)
2005
40
Rasmussen encephalitis. (15096412)
2004
41
Rasmussen encephalitis with active inflammation and delayed seizures onset. (15037707)
2004
42
Late language transfer in patients with Rasmussen encephalitis. (12790905)
2003
43
MRI volumetric analysis in rasmussen encephalitis: a longitudinal study. (12558582)
2003
44
Ultrastructural study of Rasmussen encephalitis. (12396238)
2002
45
Rasmussen encephalitis associated with segmental vitiligo of the scalp: clinicopathologic report. (11392525)
2001
46
Magnetic resonance and positron emission tomography changes during the clinical progression of Rasmussen encephalitis. (10800268)
2000
47
Evidence for glutamate receptor autoimmunity in the pathogenesis of Rasmussen encephalitis. (10514842)
1999
48
Rasmussen encephalitis: complementary role of multitechnique neuroimaging. (9541296)
1998
49
Pediatric Rasmussen encephalitis: social communication, language, PET and pathology before and after hemispherectomy. (8899214)
1996
50
Rasmussen encephalitis: epilepsia partialis continua secondary to chronic encephalitis. (2127355)
1990

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 41)
idSuper pathwaysScoreTop Affiliating Genes
19.9IFNG, IL18
2
Show member pathways
9.4IFNG, IL18, IL6
39.3IL4, IL6
4
Show member pathways
9.3IFNG, IL18, IL4
59.1IFNG, IL18, TNF
69.0IFNG, IL4, IL6
7
Show member pathways
9.0IFNG, IL4, IL6
88.9IL18, IL6, TNF
9
Show member pathways
8.9BMP6, IFNG, TNF
108.8IFNG, IL6, TNF
118.8IFNG, IL6, TNF
128.8IFNG, IL6, TNF
13
Show member pathways
8.8IFNG, IL6, TNF
148.8IFNG, IL6, TNF
15
Show member pathways
8.8IFNG, IL15, TNF
16
Show member pathways
8.7IFNG, IL4, TNF
178.6IL15, IL6, TNF
188.5IFNG, IL18, IL6, TNF
19
Show member pathways
8.5IFNG, IL18, IL6, TNF
208.5IFNG, IL18, IL6, TNF
21
Show member pathways
8.5IFNG, IL18, IL6, TNF
228.5IFNG, IL18, IL6, TNF
238.5IL4, IL6, TNF
248.5IL4, IL6, TNF
25
Show member pathways
8.5IFNG, IL15, IL4, IL6
268.5CHRNA7, IL6, SST, TNF
278.2IFNG, IL4, IL6, TNF
28
Show member pathways
8.2IFNG, IL4, IL6, TNF
29
Show member pathways
8.2IFNG, IL4, IL6, TNF
308.0IFNG, IL15, IL18, IL6, TNF
317.9IFNG, IL15, IL18, IL4, TNF
32
Show member pathways
7.8BMP6, IFNG, IL15, IL18, IL4, IL6
337.6IFNG, IL15, IL4, IL6, TNF
347.6IFNG, IL15, IL4, IL6, TNF
35
Show member pathways
7.4IFNG, IL15, IL18, IL4, IL6, TNF
36
Show member pathways
7.4IFNG, IL15, IL18, IL4, IL6, TNF
37
Show member pathways
7.4IFNG, IL15, IL18, IL4, IL6, TNF
38
Show member pathways
7.3BMP6, IL15, IL18, IL4, IL6, TNF
397.3BMP6, IL15, IL18, IL4, IL6, TNF
40
Show member pathways
6.9BMP6, IFNG, IL15, IL18, IL4, IL6
41
Show member pathways
6.9BMP6, IFNG, IL15, IL18, IL4, IL6

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
1voltage-gated sodium channel complexGO:000151810.6SCN1A, SCN2B
2axon initial segmentGO:004319410.5CCK, SCN1A
3perikaryonGO:00432049.5CCK, GRIA3, IFNG
4external side of plasma membraneGO:00098978.1CHRNA7, IFNG, IL4, IL6, TNF
5extracellular regionGO:00055767.3CCK, IFNG, IL15, IL18, IL6, SST
6extracellular spaceGO:00056156.0BMP6, CCK, IFNG, IL15, IL18, IL4

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

(show all 34)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of tissue remodelingGO:003410510.4IL15, IL18
2positive regulation of interleukin-17 productionGO:003274010.4IL15, IL18
3neutrophil apoptotic processGO:000178110.4IFNG, IL6
4positive regulation of natural killer cell proliferationGO:003281910.3IL15, IL18
5type 2 immune responseGO:004209210.3IL18, IL4
6positive regulation of isotype switching to IgG isotypesGO:004830410.1IFNG, IL4
7positive regulation of MHC class II biosynthetic processGO:004534810.1IFNG, IL4
8positive regulation of vitamin D biosynthetic processGO:006055710.0IFNG, TNF
9positive regulation of calcidiol 1-monooxygenase activityGO:006055910.0IFNG, TNF
10positive regulation of membrane protein ectodomain proteolysisGO:005104410.0IFNG, TNF
11positive regulation of osteoclast differentiationGO:00456729.9IFNG, TNF
12negative regulation of growth of symbiont in hostGO:00441309.9IFNG, TNF
13positive regulation of chemokine productionGO:00327229.8IL6, TNF
14epithelial cell proliferation involved in salivary gland morphogenesisGO:00606649.8IL6, TNF
15negative regulation of myoblast differentiationGO:00456629.8IL18, TNF
16positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.7IL15, IL18, IL6
17positive regulation of mononuclear cell migrationGO:00716779.7IL4, TNF
18negative regulation of lipid storageGO:00108889.7IL6, TNF
19defense response to protozoanGO:00428329.6IFNG, IL4, IL6
20positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.4CCK, IL4, IL6
21humoral immune responseGO:00069599.4IFNG, IL6, TNF
22positive regulation of neuron differentiationGO:00456669.4BMP6, IFNG, IL6
23positive regulation of chemokine biosynthetic processGO:00450809.4IFNG, IL4, TNF
24cellular response to lipopolysaccharideGO:00712229.3IFNG, IL6, TNF
25response to glucocorticoidGO:00513849.2BMP6, IL6, TNF
26positive regulation of nitric oxide biosynthetic processGO:00454299.1IFNG, IL6, TNF
27positive regulation of sequence-specific DNA binding transcription factor activityGO:00510918.9IL4, IL6, TNF
28positive regulation of gene expressionGO:00106288.7IFNG, IL18, IL6, TNF
29positive regulation of apoptotic processGO:00430658.7CCK, IFNG, IL6, TNF
30immune responseGO:00069558.6BMP6, IL15, IL18, IL4
31positive regulation of T cell proliferationGO:00421028.4ADK, IFNG, IL15, IL4, IL6
32response to drugGO:00424938.4IFNG, IL4, IL6, SST
33inflammatory responseGO:00069548.3BMP6, IL15, IL18, IL6, TNF
34positive regulation of cell proliferationGO:00082847.7CCK, CHRNA7, IFNG, IL15, IL4, IL6

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activityGO:000524810.3SCN1A, SCN2B
2cytokine activityGO:00051256.9BMP6, IFNG, IL15, IL18, IL4, IL6

Sources for Rasmussen Encephalitis

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet