TSES
MCID: PRN023
MIFTS: 57

Prion Disease (TSES) malady

Neuronal diseases, Cardiovascular diseases, Rare diseases, Mental diseases categories
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Summaries for Prion Disease

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Sources:
8Disease Ontology, 21Genetics Home Reference, 34MedlinePlus, 44NINDS, 65Wikipedia, 33MalaCards
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MedlinePlus:34 The brain is the control center of the body. it controls thoughts, memory, speech, and movement. it regulates the function of many organs. when the brain is healthy, it works quickly and automatically. however, when problems occur, the results can be devastating. inflammation in the brain can lead to problems such as vision loss, weakness and paralysis. loss of brain cells, which happens if you suffer a stroke, can affect your ability to think clearly. brain tumors can also press on nerves and affect brain function. some brain diseases are genetic. and we do not know what causes some brain diseases, such as alzheimer's disease. the symptoms of brain diseases vary widely depending on the specific problem. in some cases, damage is permanent. in other cases, treatments such as surgery, medicines, or physical therapy can correct the source of the problem or improve symptoms.

MalaCards: Prion Disease, also known as brain diseases, is related to scrapie and chronic wasting disease. An important gene associated with Prion Disease is PRNP (prion protein), and among its related pathways are Creation of C4 and C2 activators and Pertussis. The compounds guanidine hydrochloride and tositumomab have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and bone, and related mouse phenotype immune system.

Disease Ontology:8 A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.

Genetics Home Reference:21 Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years.

NINDS:44 Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope.

Wikipedia:65 Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of... more...

Aliases & Classifications for Prion Disease

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Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 21Genetics Home Reference, 44NINDS, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 62UMLS, 40NCIt, 58SNOMED-CT, 35MeSH, 26ICD10 via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
prion disease:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/1000000; Age of onset: Adulthood


Aliases & Descriptions:

prion disease 8 65 21 10 49
brain diseases 65 45 34 62
transmissible spongiform encephalopathies 65 21 44
prion diseases 44 45 62
inherited human transmissible spongiform encephalopathies 65 21
transmissible spongiform encephalopathy 8 49
creutzfeldt-jakob disease 65 62
transmissible dementias 65 21
tses 65 21
human transmissible spongiform encephalopathies, inherited 62
cerebral dysfunction syndrome 62
prion-associated disorders 21
spongiform encephalopathy 8
prion-induced disorders 21
prion protein diseases 21
prion induced disorder 8
prion disease pathway 8
prion protein disease 8
brain dysfunction 45
brain disease 10
prion protein 9


External Ids:

Disease Ontology8 DOID:649
MeSH35 D017096
ICD10 via Orphanet26 A81.0, A81.1, A81.8 A81.9, more

Related Diseases for Prion Disease

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Prion Disease:



Diseases related to prion disease

Symptoms for Prion Disease

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Drugs & Therapeutics for Prion Disease

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Prion Disease

Search NIH Clinical Center for Prion Disease

Genetic Tests for Prion Disease

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Anatomical Context for Prion Disease

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Sources:
33MalaCards
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MalaCards organs/tissues related to Prion Disease:

33
Brain, Cortex, Bone, Spleen, Testes, Tonsil, T cells, Spinal cord, Testis

Animal Models for Prion Disease or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Prion Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.1CR2, CASP12, MSMB, PRNP, PRND, C1QA

Publications for Prion Disease

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Sources:
52PubMed
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Articles related to Prion Disease:

(show top 50)    (show all 536)
idTitleAuthorsYear
1
A novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairment. (23577609)
2013
2
Levels of the Mahogunin Ring Finger 1 E3 ubiquitin ligase do not influence prion disease. (23383230)
2013
3
Human prion diseases: from kuru to variant creutzfeldt-jakob disease. (23225013)
2012
4
Remarkable reduction of MAP2 in the brains of scrapie-infected rodents and human prion disease possibly correlated with the increase of calpain. (22272295)
2012
5
Change in the characteristics of ferritin induces iron imbalance in prion disease affected brains. (22182691)
2012
6
Molecular diagnosis of human prion disease. (23484550)
2011
7
From high-throughput cell culture screening to mouse model: identification of new inhibitor classes against prion disease. (21755599)
2011
8
Structure-activity relationship refinement and further assessment of indole-3-glyoxylamides as a lead series against prion disease. (21154498)
2011
9
The role of predation in disease control: a comparison of selective and nonselective removal on prion disease dynamics in deer. (21269999)
2011
10
Gene knockout of tau expression does not contribute to the pathogenesis of prion disease. (22002429)
2011
11
All clinically-relevant blood components transmit prion disease following a single blood transfusion: a sheep model of vCJD. (21858015)
2011
12
Can prion disease suspicion be supported earlier? Clinical, radiological and laboratory findings in a series of cases. (21869605)
2011
13
Expert elicitation for the judgment of prion disease risk uncertainties. (21218351)
2011
14
Residues surrounding the glycosylphosphatidylinositol anchor attachment site of PrP modulate prion infection: insight from the resistance of rabbits to prion disease. (20427543)
2010
15
Prion disease susceptibility is affected by beta-structure folding propensity and local side-chain interactions in PrP. (21041683)
2010
16
Pathologic evidence that the T188R mutation in PRNP is associated with prion disease. (21107135)
2010
17
Change in tau phosphorylation associated with neurodegeneration in the ME7 model of prion disease. (20298219)
2010
18
A Copine family member, Cpne8, is a candidate quantitative trait gene for prion disease incubation time in mouse. (19795140)
2010
19
Reduction of prion infectivity and levels of scrapie prion protein by lithium aluminum hydride: implications for RNA in prion diseases. (19606066)
2009
20
HECTD2 is associated with susceptibility to mouse and human prion disease. (19214206)
2009
21
Unaltered SNARE complex formation in an in vivo model of prion disease. (18706894)
2008
22
Rodent models for prion diseases. (18284909)
2008
23
A manganese-superoxide dismutase/catalase mimetic extends survival in a mouse model of human prion disease. (18455516)
2008
24
Mutant prion protein D202N associated with familial prion disease is retained in the endoplasmic reticulum and forms 'curly' intracellular aggregates. (17873292)
2007
25
Kuru in the 21st century--an acquired human prion disease with very long incubation periods. (16798390)
2006
26
Regional brain metabolite abnormalities in inherited prion disease and asymptomatic gene carriers demonstrated in vivo by quantitative proton magnetic resonance spectroscopy. (16598479)
2006
27
Incubation period of human prion disease. (16962868)
2006
28
Surveillance for prion disease in cervids, Germany. (16494763)
2006
29
Redox metals and oxidative abnormalities in human prion diseases. (16096758)
2005
30
Involvement of the peripheral nervous system in human prion diseases including dural graft associated Creutzfeldt-Jakob disease. (15716520)
2005
31
Neurodegeneration and oxidative stress: prion disease results from loss of antioxidant defence. (16416388)
2005
32
Chronic wasting disease--prion disease in the wild. (15094817)
2004
33
Phenotypic variability in the brains of a family with a prion disease characterized by a 144-base pair insertion in the prion protein gene. (12662318)
2003
34
Academy calls for improved tests to beat prion disease. (14628008)
2003
35
Prion diseases. (12707849)
2003
36
A murine model of a familial prion disease. (12733431)
2003
37
Prion protein interactions with nucleic acid: possible models for prion disease and prion function. (12718450)
2003
38
Prion disease: possible implications for oral health care. (14664268)
2003
39
Is there a risk of prion disease after the administration of urinary-derived gonadotrophins? (12093821)
2002
40
Mayhem of the multiple mechanisms: modelling neurodegeneration in prion disease. (12124421)
2002
41
Prion disease: close encounters of the cellular kind. (11937041)
2002
42
Chronic subclinical prion disease induced by low-dose inoculum. (11836429)
2002
43
Identification of multiple quantitative trait loci linked to prion disease incubation period in mice. (11353827)
2001
44
Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17. (11400017)
2001
45
Transgenic models of prion disease. (11214913)
2000
46
Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene. (10506086)
1999
47
Retrospective neuropathological review of prion disease in UK haemophilic patients. (9869159)
1998
48
Effectiveness of anthracycline against experimental prion disease in Syrian hamsters. (9148807)
1997
49
Prion protein transgenes and the neuropathology in prion diseases. (7767493)
1995
50
Molecular genetics of human prion diseases. (7913754)
1994

Variations for Prion Disease

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Prion Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1PRNPNM_000311.3(PRNP): c.598G> A (p.Glu200Lys)single nucleotide variantPathogenicrs28933385GRCh37Chr 20, 4680464: 4680464
2PRNPNM_000311.3(PRNP): c.628G> A (p.Val210Ile)single nucleotide variantPathogenicrs74315407GRCh37Chr 20, 4680494: 4680494
3PRNPNM_000311.3(PRNP): c.538G> A (p.Val180Ile)single nucleotide variantPathogenicrs74315408GRCh37Chr 20, 4680404: 4680404
4PRNPNM_000311.3(PRNP): c.695T> G (p.Met232Arg)single nucleotide variantPathogenic, Uncertain significancers74315409GRCh37Chr 20, 4680561: 4680561
5PRNPNM_000311.3(PRNP): c.623G> A (p.Arg208His)single nucleotide variantPathogenicrs74315412GRCh37Chr 20, 4680489: 4680489
6PRNPNM_000311.3(PRNP): c.631G> C (p.Glu211Gln)single nucleotide variantPathogenicrs398122370GRCh37Chr 20, 4680497: 4680497

Expression for genes affiliated with Prion Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Prion Disease

Search GEO for disease gene expression data for Prion Disease.

Pathways for genes affiliated with Prion Disease

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Sources:
50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 53QIAGEN, 60Thomson Reuters, 57SinoBiological
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Pathways related to Prion Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.9C1QA, C1QC, C1QB
28.9C1QA, C1QC, C1QB
3
Show member pathways
8.9C1QB, C1QC, C1QA
4
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
8.5C1QC, C1QA, C1QB, CASP12
5
Show member pathways
Immune response Alternative complement pathway60
Immune response Lectin Induced complement pathway60
Immune response Classic complement pathway60
8.5CR2, C1QB, C1QC, C1QA
6
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
8.5C1QA, CR2, C1QC, C1QB
78.2C1QB, C1QC, C1QA, PRNP, CASP12
88.1C1QA, C1QB, C1QC, FPR2

Compounds for genes affiliated with Prion Disease

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45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Prion Disease according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1guanidine hydrochloride459.7MSMB, PRNP
2tositumomab51 1110.2C1QA, C1QC, C1QB
3ibritumomab51 1110.2C1QA, C1QC, C1QB
4alefacept45 1110.2C1QB, C1QC, C1QA
5bevacizumab51 1110.2C1QA, C1QC, C1QB
6efalizumab45 1110.2C1QB, C1QC, C1QA
7daclizumab45 1110.1C1QA, C1QC, C1QB
8basiliximab45 1110.1C1QB, C1QC, C1QA
9natalizumab45 1110.1C1QB, C1QC, C1QA
10alemtuzumab45 1110.1C1QB, C1QC, C1QA
11gemtuzumab ozogamicin51 45 1111.1C1QB, C1QC, C1QA
12adalimumab45 51 1111.1C1QA, C1QC, C1QB
13abciximab45 1110.0C1QB, C1QC, C1QA
14cetuximab45 51 1111.0C1QA, C1QC, C1QB
15etanercept45 51 1110.9C1QA, C1QC, C1QB
16trastuzumab45 51 1110.8C1QB, C1QC, C1QA
17rituximab45 51 1110.6C1QA, C1QC, C1QB
18calcium45 51 24 119.9C1QB, C1QC, C1QA, PRNP, MSMB, CR2

GO Terms for genes affiliated with Prion Disease

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16Gene Ontology
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Cellular components related to Prion Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1anchored component of membraneGO:0312259.8PRNP, PRND
2complement component C1 complexGO:0056029.4C1QA, C1QB
3collagenGO:0055818.6C1QA, C1QC, C1QB

Biological processes related to Prion Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1complement activationGO:0069568.6C1QB, C1QC, C1QA
2innate immune responseGO:0450878.5CR2, C1QA, C1QC, C1QB
3complement activation, classical pathwayGO:0069588.4CR2, C1QA, C1QC, C1QB

Products for genes affiliated with Prion Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Prion Disease

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet