PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Fatal Familial Insomnia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE There is a strong link between mutations in the gene encoding the normal prion protein in humans (PRNP) - located on the short arm of chromosome 20 - and forms of prion disease with a familial predisposition (familial CJD, GSS, FFI). 24141515 2013
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Methionine-valine polymorphism at codon 129 of the prion-protein gene (PRNP) determines the phenotype in other hereditary prion-protein diseases, but association with the clinical phenotype in FFI remains uncertain. 24340298 2013
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 Biomarker disease MGD Profoundly different prion diseases in knock-in mice carrying single PrP codon substitutions associated with human diseases. 23959875 2013
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 Biomarker disease BEFREE Genetic Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker syndrome, fatal familial insomnia and prion protein cerebral amyloid angiopathy are clinically and neuropathologically distinct neurodegenerative diseases linked to mutations in the PRNP gene encoding the cellular prion protein (PrPC). 23808898 2013
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE We characterize SSOs in a 51-year-old male with FFI carrying the D178N mutation and the methionine/methionine homozygosity at the polymorphic 129 codon of the PRNP gene and in eight gender and age-matched healthy controls. 22609023 2012
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Here, we review the current knowledge of the effects of the pathogenic mutations linked to genetic CJD and fatal familial insomnia on the prion protein metabolism and physicochemical properties, the disease phenotype and the strain characteristics. 20978903 2011
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 Biomarker disease BEFREE Genetic tests identified no prion protein (PrP) gene mutation, but neuropathological examination and molecular study showed protease-resistant PrP (PrPres) in several brain regions and severe atrophy of the anterior-ventral and medial-dorsal thalamic nuclei similar to that described in FFI. 22040318 2011
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Analysis of PRNP in 32 family members revealed eleven carrying the D178N allele, including the two FFI patients. 20096809 2010
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE The mutation D178N in the PRNP gene associated with the M129 genotype is usually associated with familial fatal insomnia. 19571725 2010
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) and genetic Creutzfeldt-Jakob disease (CJD(D178N,)(129V)) are two phenotypes that share a common point mutation at codon 178 of the prion protein gene (PRNP), but differ in their polymorphism at codon 129 of the mutant allele. 21071944 2010
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease UNIPROT Conformational diversity in prion protein variants influences intermolecular beta-sheet formation. 19927125 2010
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Human familial forms of the disease are linked to specific mutations in the PrP gene, PRNP, and include Gerstmann-Strussler-Scheinker syndrome (GSS), familial Creutzfeldt-Jakob disease (fCJD), and fatal familial insomnia. 20806222 2010
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease LHGDN Prion mutation D178N with highly variable disease onset and phenotype. 19228673 2009
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 Biomarker disease MGD Unique pathology was transmitted from FFI mice to mice expressing wild-type PrP sharing the same transmission barrier. 19709627 2009
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 AlteredExpression disease BEFREE Unique pathology was transmitted from FFI mice to mice expressing wild-type PrP sharing the same transmission barrier. 19709627 2009
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE This work presents a detailed investigation of the genomic region surrounding the PRNP gene in a sample of patients diagnosed with fatal familial insomnia (FFI) from several European countries, notably Spain. 18347820 2008
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 Biomarker disease BEFREE Inherited prion diseases are caused by mutations in the gene which codes for prion protein (PrP), leading to proliferation of abnormal PrP isomers in the brain and neurodegeneration; they include Gerstmann-Sträussler-Scheinker disease (GSS), fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD). 16598479 2006
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 Biomarker disease GENOMICS_ENGLAND Childhood onset in familial prion disease with a novel mutation in the PRNP gene. 16831973 2006
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE A point mutation in the prion protein gene appears to be the cause of fatal familial insomnia. 16979429 2006
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 Biomarker disease BEFREE It has been suggested that the clinical and pathological difference between FFI and CJD is caused by different conformations of the prion protein. 15739202 2005
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 Biomarker disease GENOMICS_ENGLAND Phenotypic variability in familial prion diseases due to the D178N mutation. 16227536 2005
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Rare Sporadic Fatal Insomnia (SFI) cases occur without PRNP mutation but with features similar to FFI. 16109494 2005
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 Biomarker disease BEFREE The abnormal protease-resistant PrP (PrP(res)) molecules in the cerebral cortex of this case revealed PrP(res) type 2 pattern and were compatible with those of FFI cases, but the transmission study demonstrated that a pathogen in this case was different from that in a case with classical FFI. 15634234 2005
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE The authors present clinical, sleep, and neuroendocrine features of a patient with genetically confirmed fatal familial insomnia (D178N mutation with heterozygosity at codon 129 of the prion protein gene). 15623717 2004
CUI: C0206042
Disease: Fatal Familial Insomnia
Fatal Familial Insomnia 		1.000 GeneticVariation disease BEFREE Fatal familial insomnia (FFI) is an autosomal dominant disease linked to a mutation in the prion protein gene. 14732629 2004