TSES
MCID: GNT033
MIFTS: 30

Genetic Prion Diseases (TSES)

Aliases & Classifications for Genetic Prion Diseases

MalaCards integrated aliases for Genetic Prion Diseases:

Name: Genetic Prion Diseases 24 29 6
Transmissible Spongiform Encephalopathies 24 54 3
Tses 24 3
Prion Diseases 73

Characteristics:

GeneReviews:

24
Penetrance The prnp pathogenic variants p.glu200lys and p.val210ile are commonly associated with a variable but generally age-dependent penetrance such that the older the individual, the greater likelihood of his/her manifesting the disease. thus, it is not uncommon to encounter a situation in which the parents and other relatives of an affected individual may be unaffected but have a prnp pathogenic variant [kovács et al 2005]. interestingly, the p.val180ile variant appears to occur almost exclusively in individuals presenting with cjd in later life [kovács et al 2005]...

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UMLS 73 C0162534

Summaries for Genetic Prion Diseases

MalaCards based summary : Genetic Prion Diseases, also known as transmissible spongiform encephalopathies, is related to creutzfeldt-jakob disease and alzheimer disease. An important gene associated with Genetic Prion Diseases is PRNP (Prion Protein), and among its related pathways/superpathways is Neuroscience. Affiliated tissues include brain, testes and bone.

GeneReviews: NBK1229

Related Diseases for Genetic Prion Diseases

Graphical network of the top 20 diseases related to Genetic Prion Diseases:



Diseases related to Genetic Prion Diseases

Symptoms & Phenotypes for Genetic Prion Diseases

Drugs & Therapeutics for Genetic Prion Diseases

Search Clinical Trials , NIH Clinical Center for Genetic Prion Diseases

Genetic Tests for Genetic Prion Diseases

Genetic tests related to Genetic Prion Diseases:

# Genetic test Affiliating Genes
1 Genetic Prion Diseases 29

Anatomical Context for Genetic Prion Diseases

MalaCards organs/tissues related to Genetic Prion Diseases:

41
Brain, Testes, Bone, Heart, T Cells, Retina

Publications for Genetic Prion Diseases

Articles related to Genetic Prion Diseases:

(show top 50) (show all 282)
# Title Authors Year
1
Human transmissible spongiform encephalopathies: historic view. ( 29887130 )
2018
2
Complex proteinopathies and neurodegeneration: insights from the study of transmissible spongiform encephalopathies. ( 30427511 )
2018
3
Reelin Expression in Creutzfeldt-Jakob Disease and Experimental Models of Transmissible Spongiform Encephalopathies. ( 27726110 )
2017
4
Recombinant PrP and Its Contribution to Research on Transmissible Spongiform Encephalopathies. ( 29240682 )
2017
5
Prion-like disorders and Transmissible Spongiform Encephalopathies: An overview of the mechanistic features that are shared by the various disease-related misfolded proteins. ( 27590581 )
2017
6
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity. ( 26864450 )
2016
7
Abnormalities in Brainstem Auditory Evoked Potentials in Sheep with Transmissible Spongiform Encephalopathies and Lack of a Clear Pathological Relationship. ( 27532040 )
2016
8
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program. ( 26488179 )
2015
9
Clinical findings and diagnosis in genetic prion diseases in Germany. ( 26076917 )
2015
10
Fundamental immunological problems associated with "transmissible spongiform encephalopathies". ( 25573495 )
2015
11
Pyroglutamyl-N-terminal prion protein fragments in sheep brain following the development of transmissible spongiform encephalopathies. ( 25988175 )
2015
12
The transmissible spongiform encephalopathies of livestock. ( 25991695 )
2015
13
Pathology of SSLOW, a transmissible and fatal synthetic prion protein disorder, and comparison with naturally occurring classical transmissible spongiform encephalopathies. ( 23578208 )
2014
14
The case for involvement of spiroplasma in the pathogenesis of transmissible spongiform encephalopathies. ( 24423635 )
2014
15
Progress on low susceptibility mechanisms of transmissible spongiform encephalopathies. ( 25297084 )
2014
16
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. ( 23555862 )
2013
17
Epitope scanning indicates structural differences in brain-derived monomeric and aggregated mutant prion proteins related to genetic prion diseases. ( 23808898 )
2013
18
Stability properties of PrP(Sc) from cattle with experimental transmissible spongiform encephalopathies: use of a rapid whole homogenate, protease-free assay. ( 23945217 )
2013
19
Review: membrane-associated misfolded protein propagation in natural transmissible spongiform encephalopathies (TSEs), synthetic prion diseases and Alzheimer's disease. ( 23171056 )
2013
20
Molecular mechanisms of neurodegeneration mediated by dysfunctional subcellular organelles in transmissible spongiform encephalopathies. ( 23439666 )
2013
21
In vitro prion protein conversion suggests risk of bighorn sheep (Ovis canadensis) to transmissible spongiform encephalopathies. ( 23938169 )
2013
22
Activation of the macroautophagic system in scrapie-infected experimental animals and human genetic prion diseases. ( 22874564 )
2012
23
Detergents modify proteinase K resistance of PrP Sc in different transmissible spongiform encephalopathies (TSEs). ( 22226540 )
2012
24
Involvement of astrocytes in transmissible spongiform encephalopathies: a confocal microscopy study. ( 22821398 )
2012
25
Molecular typing of protease-resistant prion protein in transmissible spongiform encephalopathies of small ruminants, France, 2002-2009. ( 21192855 )
2011
26
Characterization of the effect of heat on agent strains of the transmissible spongiform encephalopathies. ( 21471321 )
2011
27
Experimental interspecies transmission studies of the transmissible spongiform encephalopathies to cattle: comparison to bovine spongiform encephalopathy in cattle. ( 21908269 )
2011
28
Public risk perception of relaxation of transmissible spongiform encephalopathies (TSE) measures in Europe. ( 22043919 )
2011
29
Heart rate variability analysis in sheep affected by transmissible spongiform encephalopathies. ( 22168827 )
2011
30
Candidate cell substrates, vaccine production, and transmissible spongiform encephalopathies. ( 22172513 )
2011
31
Transmissible spongiform encephalopathies with P102L mutation of PRNP manifesting different phenotypes: clinical, neuroimaging, and electrophysiological studies in Chinese kindred in Taiwan. ( 19696976 )
2010
32
Ultrastructural characteristics (or evaluation) of Creutzfeldt-Jakob disease and other human transmissible spongiform encephalopathies or prion diseases. ( 21070167 )
2010
33
The role of mathematical modelling in understanding the epidemiology and control of sheep transmissible spongiform encephalopathies: a review. ( 20175963 )
2010
34
Monitoring of clinical signs in goats with transmissible spongiform encephalopathies. ( 20202205 )
2010
35
Fluorescence spectroscopy of the retina for diagnosis of transmissible spongiform encephalopathies. ( 20411920 )
2010
36
Atypical transmissible spongiform encephalopathies in ruminants: a challenge for disease surveillance and control. ( 21088166 )
2010
37
Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies. ( 19444528 )
2009
38
Disease-specific motifs can be identified in circulating nucleic acids from live elk and cattle infected with transmissible spongiform encephalopathies. ( 19059996 )
2009
39
Field performance of two rapid screening tests in active surveillance of transmissible spongiform encephalopathies in small ruminants. ( 19139507 )
2009
40
A report on transmissible spongiform encephalopathies and transfusion safety. ( 19220827 )
2009
41
Neuroinvasion in sheep transmissible spongiform encephalopathies: the role of the haematogenous route. ( 19473292 )
2009
42
PrP genetics in ruminant transmissible spongiform encephalopathies. ( 18284908 )
2008
43
The early history of the transmissible spongiform encephalopathies exemplified by scrapie. ( 18951958 )
2008
44
ApoE distribution and family history in genetic prion diseases in Germany. ( 18157657 )
2008
45
Cell death and autophagy in prion diseases (transmissible spongiform encephalopathies). ( 18368623 )
2008
46
A potential role for transmissible spongiform encephalopathies in Neanderthal extinction. ( 18280671 )
2008
47
Different expression patterns of CK2 subunits in the brains of experimental animals and patients with transmissible spongiform encephalopathies. ( 18404245 )
2008
48
Vaccines against transmissible spongiform encephalopathies: an urgent need? ( 18441531 )
2008
49
Mad Neanderthal disease? Some comments on "A potential role for Transmissible Spongiform Encephalopathies in Neanderthal extinction". ( 18524493 )
2008
50
Transmissible spongiform encephalopathies. ( 19046027 )
2008

Variations for Genetic Prion Diseases

ClinVar genetic disease variations for Genetic Prion Diseases:

6 (show top 50) (show all 122)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRNP NM_000311.4(PRNP) NT expansion Pathogenic rs193922906 GRCh37 Chromosome 20, 4680026: 4680049
2 PRNP NM_000311.4(PRNP) NT expansion Pathogenic rs193922906 GRCh38 Chromosome 20, 4699380: 4699403
3 PRNP NM_000311.4(PRNP): c.305C> T (p.Pro102Leu) single nucleotide variant Pathogenic rs74315401 GRCh37 Chromosome 20, 4680171: 4680171
4 PRNP NM_000311.4(PRNP): c.305C> T (p.Pro102Leu) single nucleotide variant Pathogenic rs74315401 GRCh38 Chromosome 20, 4699525: 4699525
5 PRNP NM_000311.4(PRNP): c.350C> T (p.Ala117Val) single nucleotide variant Pathogenic rs74315402 GRCh37 Chromosome 20, 4680216: 4680216
6 PRNP NM_000311.4(PRNP): c.350C> T (p.Ala117Val) single nucleotide variant Pathogenic rs74315402 GRCh38 Chromosome 20, 4699570: 4699570
7 PRNP NM_000311.4(PRNP): c.385A> G (p.Met129Val) single nucleotide variant Benign rs1799990 GRCh37 Chromosome 20, 4680251: 4680251
8 PRNP NM_000311.4(PRNP): c.385A> G (p.Met129Val) single nucleotide variant Benign rs1799990 GRCh38 Chromosome 20, 4699605: 4699605
9 PRNP NM_000311.4(PRNP): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs28933385 GRCh37 Chromosome 20, 4680464: 4680464
10 PRNP NM_000311.4(PRNP): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs28933385 GRCh38 Chromosome 20, 4699818: 4699818
11 PRNP NM_000311.4(PRNP): c.532G> A (p.Asp178Asn) single nucleotide variant Pathogenic rs74315403 GRCh37 Chromosome 20, 4680398: 4680398
12 PRNP NM_000311.4(PRNP): c.532G> A (p.Asp178Asn) single nucleotide variant Pathogenic rs74315403 GRCh38 Chromosome 20, 4699752: 4699752
13 PRNP NM_000311.4(PRNP): c.593T> C (p.Phe198Ser) single nucleotide variant Pathogenic rs74315405 GRCh37 Chromosome 20, 4680459: 4680459
14 PRNP NM_000311.4(PRNP): c.593T> C (p.Phe198Ser) single nucleotide variant Pathogenic rs74315405 GRCh38 Chromosome 20, 4699813: 4699813
15 PRNP NM_000311.4(PRNP): c.650A> G (p.Gln217Arg) single nucleotide variant Pathogenic rs74315406 GRCh37 Chromosome 20, 4680516: 4680516
16 PRNP NM_000311.4(PRNP): c.650A> G (p.Gln217Arg) single nucleotide variant Pathogenic rs74315406 GRCh38 Chromosome 20, 4699870: 4699870
17 PRNP NM_000311.4(PRNP): c.628G> A (p.Val210Ile) single nucleotide variant Pathogenic rs74315407 GRCh37 Chromosome 20, 4680494: 4680494
18 PRNP NM_000311.4(PRNP): c.628G> A (p.Val210Ile) single nucleotide variant Pathogenic rs74315407 GRCh38 Chromosome 20, 4699848: 4699848
19 PRNP NM_000311.4(PRNP): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs11538758 GRCh37 Chromosome 20, 4680180: 4680180
20 PRNP NM_000311.4(PRNP): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs11538758 GRCh38 Chromosome 20, 4699534: 4699534
21 PRNP NM_000311.4(PRNP): c.538G> A (p.Val180Ile) single nucleotide variant Likely pathogenic rs74315408 GRCh37 Chromosome 20, 4680404: 4680404
22 PRNP NM_000311.4(PRNP): c.538G> A (p.Val180Ile) single nucleotide variant Likely pathogenic rs74315408 GRCh38 Chromosome 20, 4699758: 4699758
23 PRNP NM_000311.4(PRNP): c.695T> G (p.Met232Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs74315409 GRCh37 Chromosome 20, 4680561: 4680561
24 PRNP NM_000311.4(PRNP): c.695T> G (p.Met232Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs74315409 GRCh38 Chromosome 20, 4699915: 4699915
25 PRNP NM_000311.4(PRNP): c.547A> G (p.Thr183Ala) single nucleotide variant Pathogenic rs74315411 GRCh37 Chromosome 20, 4680413: 4680413
26 PRNP NM_000311.4(PRNP): c.547A> G (p.Thr183Ala) single nucleotide variant Pathogenic rs74315411 GRCh38 Chromosome 20, 4699767: 4699767
27 PRNP NM_000311.4(PRNP): c.512A> G (p.Asn171Ser) single nucleotide variant Benign rs16990018 GRCh37 Chromosome 20, 4680378: 4680378
28 PRNP NM_000311.4(PRNP): c.512A> G (p.Asn171Ser) single nucleotide variant Benign rs16990018 GRCh38 Chromosome 20, 4699732: 4699732
29 PRNP NM_000311.4(PRNP): c.655G> A (p.Glu219Lys) single nucleotide variant Likely benign rs1800014 GRCh37 Chromosome 20, 4680521: 4680521
30 PRNP NM_000311.4(PRNP): c.655G> A (p.Glu219Lys) single nucleotide variant Likely benign rs1800014 GRCh38 Chromosome 20, 4699875: 4699875
31 PRNP NM_000311.4(PRNP): c.623G> A (p.Arg208His) single nucleotide variant Conflicting interpretations of pathogenicity rs74315412 GRCh37 Chromosome 20, 4680489: 4680489
32 PRNP NM_000311.4(PRNP): c.623G> A (p.Arg208His) single nucleotide variant Conflicting interpretations of pathogenicity rs74315412 GRCh38 Chromosome 20, 4699843: 4699843
33 PRNP NM_000311.4(PRNP): c.560A> G (p.His187Arg) single nucleotide variant Pathogenic rs74315413 GRCh37 Chromosome 20, 4680426: 4680426
34 PRNP NM_000311.4(PRNP): c.560A> G (p.His187Arg) single nucleotide variant Pathogenic rs74315413 GRCh38 Chromosome 20, 4699780: 4699780
35 PRNP NM_000311.4(PRNP): c.313C> A (p.Pro105Thr) single nucleotide variant Pathogenic rs74315414 GRCh37 Chromosome 20, 4680179: 4680179
36 PRNP NM_000311.4(PRNP): c.313C> A (p.Pro105Thr) single nucleotide variant Pathogenic rs74315414 GRCh38 Chromosome 20, 4699533: 4699533
37 PRNP NM_000311.4(PRNP): c.313C> T (p.Pro105Ser) single nucleotide variant Pathogenic rs74315414 GRCh37 Chromosome 20, 4680179: 4680179
38 PRNP NM_000311.4(PRNP): c.313C> T (p.Pro105Ser) single nucleotide variant Pathogenic rs74315414 GRCh38 Chromosome 20, 4699533: 4699533
39 PRNP NM_000311.4(PRNP): c.435T> G (p.Tyr145Ter) single nucleotide variant Pathogenic rs80356710 GRCh37 Chromosome 20, 4680301: 4680301
40 PRNP NM_000311.4(PRNP): c.435T> G (p.Tyr145Ter) single nucleotide variant Pathogenic rs80356710 GRCh38 Chromosome 20, 4699655: 4699655
41 PRNP NM_000311.4(PRNP): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic rs80356711 GRCh37 Chromosome 20, 4680344: 4680344
42 PRNP NM_000311.4(PRNP): c.478C> T (p.Gln160Ter) single nucleotide variant Pathogenic rs80356711 GRCh38 Chromosome 20, 4699698: 4699698
43 PRNP NM_000311.3(PRNP): c.204_227del24 (p.Pro84_Gln91del) deletion Likely benign rs587778768 GRCh37 Chromosome 20, 4680070: 4680093
44 PRNP NM_000311.3(PRNP): c.204_227del24 (p.Pro84_Gln91del) deletion Likely benign rs587778768 GRCh38 Chromosome 20, 4699424: 4699447
45 PRNP NM_000311.4(PRNP): c.228C> T (p.Pro76=) single nucleotide variant Benign/Likely benign rs112637437 GRCh38 Chromosome 20, 4699448: 4699448
46 PRNP NM_000311.4(PRNP): c.228C> T (p.Pro76=) single nucleotide variant Benign/Likely benign rs112637437 GRCh37 Chromosome 20, 4680094: 4680094
47 PRNP NM_000311.4(PRNP): c.-22C> G single nucleotide variant Uncertain significance rs886056741 GRCh38 Chromosome 20, 4686501: 4686501
48 PRNP NM_000311.4(PRNP): c.-22C> G single nucleotide variant Uncertain significance rs886056741 GRCh37 Chromosome 20, 4667147: 4667147
49 PRNP NM_000311.4(PRNP): c.-18C> T single nucleotide variant Likely benign rs537449340 GRCh38 Chromosome 20, 4686505: 4686505
50 PRNP NM_000311.4(PRNP): c.-18C> T single nucleotide variant Likely benign rs537449340 GRCh37 Chromosome 20, 4667151: 4667151

Expression for Genetic Prion Diseases

Search GEO for disease gene expression data for Genetic Prion Diseases.

Pathways for Genetic Prion Diseases

Pathways related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.16 APOE PRNP

GO Terms for Genetic Prion Diseases

Cellular components related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 8.62 APOE PRNP

Biological processes related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.26 APOE PRNP
2 long-term memory GO:0007616 9.16 APOE PRNP
3 negative regulation of amyloid-beta formation GO:1902430 8.96 APOE PRNP
4 negative regulation of long-term synaptic potentiation GO:1900272 8.62 APOE PRNP

Molecular functions related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 8.96 APOE PRNP
2 amyloid-beta binding GO:0001540 8.62 APOE PRNP

Sources for Genetic Prion Diseases

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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