MCID: INH025
MIFTS: 19

Inherited Prion Disease

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Inherited Prion Disease

MalaCards integrated aliases for Inherited Prion Disease:

Name: Inherited Prion Disease 59
Familial Prion Disease 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 A81.8
Orphanet 59 ORPHA280400

Summaries for Inherited Prion Disease

MalaCards based summary : Inherited Prion Disease, also known as familial prion disease, is related to gerstmann-straussler disease and fatal familial insomnia. An important gene associated with Inherited Prion Disease is PRNP (Prion Protein). Affiliated tissues include brain, spinal cord and testes.

Related Diseases for Inherited Prion Disease

Graphical network of the top 20 diseases related to Inherited Prion Disease:



Diseases related to Inherited Prion Disease

Symptoms & Phenotypes for Inherited Prion Disease

Drugs & Therapeutics for Inherited Prion Disease

Search Clinical Trials , NIH Clinical Center for Inherited Prion Disease

Genetic Tests for Inherited Prion Disease

Anatomical Context for Inherited Prion Disease

MalaCards organs/tissues related to Inherited Prion Disease:

41
Brain, Spinal Cord, Testes, Testis, Thalamus

Publications for Inherited Prion Disease

Articles related to Inherited Prion Disease:

(show top 50) (show all 139)
# Title Authors PMID Year
1
Nascent β Structure in the Elongated Hydrophobic Region of a Gerstmann-Sträussler-Scheinker PrP Allele. 38
31034890 2019
2
Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease. 38
30778521 2019
3
Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease. 38
30698738 2019
4
Gerstmann-Sträussler-Scheinker disease: A case report. 38
30746381 2019
5
Prion dimer is heterogenous and is modulated by multiple negative and positive motifs. 38
30600179 2019
6
Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia. 38
31122137 2019
7
Impaired transport of intrinsically disordered proteins through the Sec61 and SecY translocon; implications for prion diseases. 38
29388511 2018
8
Variably protease-sensitive prionopathy. 38
29887135 2018
9
Effects of a naturally occurring amino acid substitution in bovine PrP: a model for inherited prion disease in a natural host species. 38
29262866 2017
10
Different Complicated Brain Pathologies in Monozygotic Twins With Gerstmann-Sträussler-Scheinker Disease. 38
28922846 2017
11
Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations. 38
28324299 2017
12
Copper- and Zinc-Promoted Interdomain Structure in the Prion Protein: A Mechanism for Autoinhibition of the Neurotoxic N-Terminus. 38
28838668 2017
13
Transmissibility of Gerstmann-Sträussler-Scheinker syndrome in rodent models: New insights into the molecular underpinnings of prion infectivity. 38
27892798 2016
14
Quantitative EEG parameters correlate with the progression of human prion diseases. 38
27413165 2016
15
Roles of methionine oxidation in E200K prion protein misfolding: Implications for the mechanism of pathogenesis in E200K linked familial Creutzfeldt-Jakob disease. 38
26779934 2016
16
'PrP systemic deposition disease': clinical and pathological characteristics of novel familial prion disease with 2-bp deletion in codon 178. 38
26768678 2016
17
Transmission Properties of Human PrP 102L Prions Challenge the Relevance of Mouse Models of GSS. 38
26135918 2015
18
Single photon emission computed tomography (SPECT) findings of a patient with a novel prion mutation. 38
25742899 2015
19
Predictive testing for inherited prion disease: report of 22 years experience. 38
24713662 2014
20
Reversible symptoms and clearance of mutant prion protein in an inducible model of a genetic prion disease in Drosophila melanogaster. 38
24686303 2014
21
β-hairpin-mediated formation of structurally distinct multimers of neurotoxic prion peptides. 38
24498083 2014
22
Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation. 38
24275071 2013
23
Multiparameter MR imaging in the 6-OPRI variant of inherited prion disease. 38
23538406 2013
24
A novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairment. 38
23577609 2013
25
Filamentous white matter prion protein deposition is a distinctive feature of multiple inherited prion diseases. 38
24252267 2013
26
The Medical Research Council prion disease rating scale: a new outcome measure for prion disease therapeutic trials developed and validated using systematic observational studies. 38
23550114 2013
27
Clinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt-Jakob disease. 38
23261545 2013
28
Zinc drives a tertiary fold in the prion protein with familial disease mutation sites at the interface. 38
23290724 2013
29
Inherited prion disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion protein. 38
24086135 2013
30
Inherited prion disease with 4-octapeptide repeat insertion linked to valine at codon 129. 38
22300874 2012
31
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 38
22210626 2012
32
Distinct neuropsychological profiles correspond to distribution of cortical thinning in inherited prion disease caused by insertional mutation. 38
21849340 2012
33
Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease with the P102L mutation. 38
22384235 2012
34
Structural polymorphism in amyloids: new insights from studies with Y145Stop prion protein fibrils. 38
22002245 2011
35
Familial Alzheimer's disease and inherited prion disease in the UK are poorly ascertained. 38
20802216 2011
36
Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene. 38
21911696 2011
37
Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors. 38
21616973 2011
38
Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype. 38
21416485 2011
39
Atypical prion protein conformation in familial prion disease with PRNP P105T mutation. 38
20875062 2011
40
Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102Leu. 38
21167505 2011
41
Familial CJD associated PrP mutants within transmembrane region induced Ctm-PrP retention in ER and triggered apoptosis by ER stress in SH-SY5Y cells. 38
21298055 2011
42
Probing the conformation of a prion protein fibril with hydrogen exchange. 38
20679344 2010
43
The H187R mutation of the human prion protein induces conversion of recombinant prion protein to the PrP(Sc)-like form. 38
20718410 2010
44
Glycosaminoglycan sulphation affects the seeded misfolding of a mutant prion protein. 38
20808809 2010
45
NMR structure of the human prion protein with the pathological Q212P mutation reveals unique structural features. 38
20661422 2010
46
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit. 38
20583301 2010
47
Electrostatics in the stability and misfolding of the prion protein: salt bridges, self energy, and solvation. 38
20453937 2010
48
Brain-water diffusion coefficients reflect the severity of inherited prion disease. 38
20177119 2010
49
A distinct phenotype of leg hyperreflexia in a Japanese family with Gerstmann-Sträussler-Scheinker syndrome (P102L). 38
20154442 2010
50
Prion protein with an insertional mutation accumulates on axonal and dendritic plasmalemma and is associated with distinctive ultrastructural changes. 38
19700753 2009

Variations for Inherited Prion Disease

Expression for Inherited Prion Disease

Search GEO for disease gene expression data for Inherited Prion Disease.

Pathways for Inherited Prion Disease

GO Terms for Inherited Prion Disease

Sources for Inherited Prion Disease

3 CDC
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10 dbSNP
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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