MCID: INH025
MIFTS: 18

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 58
Familial Prion Disease 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 A81.8
Orphanet 58 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:

40
Brain, Spinal Cord, Testes, Testis, Thalamus

Publications for Inherited Prion Disease

Articles related to Inherited Prion Disease:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Genetic Factors in Mammalian Prion Diseases. 61
31537104 2019
2
Familial Creutzfeldt-Jakob Disease in an Indian Kindred. 61
31736569 2019
3
Introduction to Current Progress in Advanced Research on Prions. 61
31559970 2019
4
Nascent β Structure in the Elongated Hydrophobic Region of a Gerstmann-Sträussler-Scheinker PrP Allele. 61
31034890 2019
5
Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease. 61
30778521 2019
6
Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease. 61
30698738 2019
7
Gerstmann-Sträussler-Scheinker disease: A case report. 61
30746381 2019
8
Prion dimer is heterogenous and is modulated by multiple negative and positive motifs. 61
30600179 2019
9
Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know. 61
31616476 2019
10
Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia. 61
31122137 2019
11
Impaired transport of intrinsically disordered proteins through the Sec61 and SecY translocon; implications for prion diseases. 61
29388511 2018
12
Variably protease-sensitive prionopathy. 61
29887135 2018
13
Effects of a naturally occurring amino acid substitution in bovine PrP: a model for inherited prion disease in a natural host species. 61
29262866 2017
14
Different Complicated Brain Pathologies in Monozygotic Twins With Gerstmann-Sträussler-Scheinker Disease. 61
28922846 2017
15
Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations. 61
28324299 2017
16
Copper- and Zinc-Promoted Interdomain Structure in the Prion Protein: A Mechanism for Autoinhibition of the Neurotoxic N-Terminus. 61
28838668 2017
17
Transmissibility of Gerstmann-Sträussler-Scheinker syndrome in rodent models: New insights into the molecular underpinnings of prion infectivity. 61
27892798 2016
18
Quantitative EEG parameters correlate with the progression of human prion diseases. 61
27413165 2016
19
Roles of methionine oxidation in E200K prion protein misfolding: Implications for the mechanism of pathogenesis in E200K linked familial Creutzfeldt-Jakob disease. 61
26779934 2016
20
'PrP systemic deposition disease': clinical and pathological characteristics of novel familial prion disease with 2-bp deletion in codon 178. 61
26768678 2016
21
Transmission Properties of Human PrP 102L Prions Challenge the Relevance of Mouse Models of GSS. 61
26135918 2015
22
Single photon emission computed tomography (SPECT) findings of a patient with a novel prion mutation. 61
25742899 2015
23
Predictive testing for inherited prion disease: report of 22 years experience. 61
24713662 2014
24
Reversible symptoms and clearance of mutant prion protein in an inducible model of a genetic prion disease in Drosophila melanogaster. 61
24686303 2014
25
β-hairpin-mediated formation of structurally distinct multimers of neurotoxic prion peptides. 61
24498083 2014
26
Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation. 61
24275071 2013
27
Multiparameter MR imaging in the 6-OPRI variant of inherited prion disease. 61
23538406 2013
28
Filamentous white matter prion protein deposition is a distinctive feature of multiple inherited prion diseases. 61
24252267 2013
29
A novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairment. 61
23577609 2013
30
The Medical Research Council prion disease rating scale: a new outcome measure for prion disease therapeutic trials developed and validated using systematic observational studies. 61
23550114 2013
31
Clinical and familial characteristics of eight Chinese patients with T188K genetic Creutzfeldt-Jakob disease. 61
23261545 2013
32
Zinc drives a tertiary fold in the prion protein with familial disease mutation sites at the interface. 61
23290724 2013
33
Inherited prion disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion protein. 61
24086135 2013
34
Inherited prion disease with 4-octapeptide repeat insertion linked to valine at codon 129. 61
22300874 2012
35
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 61
22210626 2012
36
Distinct neuropsychological profiles correspond to distribution of cortical thinning in inherited prion disease caused by insertional mutation. 61
21849340 2012
37
Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease with the P102L mutation. 61
22384235 2012
38
Structural polymorphism in amyloids: new insights from studies with Y145Stop prion protein fibrils. 61
22002245 2011
39
Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene. 61
21911696 2011
40
Familial Alzheimer's disease and inherited prion disease in the UK are poorly ascertained. 61
20802216 2011
41
Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors. 61
21616973 2011
42
Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype. 61
21416485 2011
43
Atypical prion protein conformation in familial prion disease with PRNP P105T mutation. 61
20875062 2011
44
Lower limb areflexia without central and peripheral conduction abnormalities is highly suggestive of Gerstmann-Sträussler-Scheinker disease Pro102Leu. 61
21167505 2011
45
Familial CJD associated PrP mutants within transmembrane region induced Ctm-PrP retention in ER and triggered apoptosis by ER stress in SH-SY5Y cells. 61
21298055 2011
46
Probing the conformation of a prion protein fibril with hydrogen exchange. 61
20679344 2010
47
The H187R mutation of the human prion protein induces conversion of recombinant prion protein to the PrP(Sc)-like form. 61
20718410 2010
48
Glycosaminoglycan sulphation affects the seeded misfolding of a mutant prion protein. 61
20808809 2010
49
NMR structure of the human prion protein with the pathological Q212P mutation reveals unique structural features. 61
20661422 2010
50
PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit. 61
20583301 2010

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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