Aliases & Classifications for Genetic Prion Disease

MalaCards integrated aliases for Genetic Prion Disease:

Name: Genetic Prion Disease 25 29
Genetic Prion Diseases 6

Characteristics:

GeneReviews:

25
Penetrance The penetrance for genetic prion disease in general is assumed to be 100%; however, only a limited number of studies have been performed to address this issue....

Summaries for Genetic Prion Disease

MalaCards based summary : Genetic Prion Disease, also known as genetic prion diseases, is related to creutzfeldt-jakob disease and prion disease. An important gene associated with Genetic Prion Disease is PRNP (Prion Protein). Affiliated tissues include brain, cortex and thalamus.

GeneReviews: NBK1229

Related Diseases for Genetic Prion Disease

Diseases related to Genetic Prion Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 creutzfeldt-jakob disease 29.7 PRNP HLA-DQB1
2 prion disease 10.6
3 fatal familial insomnia 10.3
4 scrapie 10.0
5 peripheral nervous system disease 10.0
6 neuropathy 10.0
7 encephalopathy 10.0
8 cerebral amyloid angiopathy, cst3-related 9.9
9 aphasia 9.9
10 kuru 9.9
11 ataxia and polyneuropathy, adult-onset 9.9
12 dementia 9.9
13 diarrhea 9.9
14 amyloidosis 9.9
15 allergic encephalomyelitis 9.9
16 dysautonomia 9.9
17 myoclonus 9.9

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



Diseases related to Genetic Prion Disease

Symptoms & Phenotypes for Genetic Prion Disease

Drugs & Therapeutics for Genetic Prion Disease

Search Clinical Trials , NIH Clinical Center for Genetic Prion Disease

Genetic Tests for Genetic Prion Disease

Genetic tests related to Genetic Prion Disease:

# Genetic test Affiliating Genes
1 Genetic Prion Disease 29

Anatomical Context for Genetic Prion Disease

MalaCards organs/tissues related to Genetic Prion Disease:

40
Brain, Cortex, Thalamus

Publications for Genetic Prion Disease

Articles related to Genetic Prion Disease:

(show top 50) (show all 134)
# Title Authors PMID Year
1
Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome. 61 25
31397917 2019
2
Genetic PrP Prion Diseases. 25 61
28778873 2018
3
Genetic Creutzfeldt-Jakob disease. 25 61
29887139 2018
4
Hereditary Human Prion Diseases: an Update. 25 61
27324792 2017
5
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature. 61 25
27943639 2017
6
Clinical findings and diagnosis in genetic prion diseases in Germany. 25 61
26076917 2016
7
Fatal familial insomnia and sporadic fatal insomnia. 25
29887141 2018
8
Doxycycline in early CJD: a double-blinded randomised phase II and observational study. 25
27807198 2017
9
Rapidly Progressive Dementia. 25
27042906 2016
10
Timing, rates and spectra of human germline mutation. 25
26656846 2016
11
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
12
Prion mutation D178N with highly variable disease onset and phenotype. 25
19228673 2009
13
Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development. 25
12197632 2002
14
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. 25
10090891 1999
15
High incidence of Creutzfeldt-Jakob disease in rural Calabria, Italy. 25
9872257 1998
16
Prions. 25
9811807 1998
17
New variant Creutzfeldt-Jakob disease: neurological features and diagnostic tests. 25
9314867 1997
18
Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene. 25
8529127 1995
19
Different post-mortem brain regions from three Chinese FFI patients induce different reactive profiles both in the first and second generation RT-QuIC assays. 61
32573356 2020
20
Genetic prion disease: opportunities for early therapeutic intervention with rigorous pre-symptomatic trials. 61
33089731 2020
21
Prion-associated cerebral amyloid angiopathy is not exacerbated by human phosphorylated tau aggregates in scrapie-infected mice expressing anchorless prion protein. 61
32829029 2020
22
Autoantibodies against the prion protein in individuals with PRNP mutations. 61
32098855 2020
23
Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect. 61
32458274 2020
24
Mutant prion proteins increase calcium permeability of AMPA receptors, exacerbating excitotoxicity. 61
32673372 2020
25
Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease. 61
32552681 2020
26
Isolation of infectious, non-fibrillar and oligomeric prions from a genetic prion disease. 61
32303068 2020
27
Genetic prion disease: no role for the immune system in disease pathogenesis? 61
32057073 2020
28
Towards a treatment for genetic prion disease: trials and biomarkers. 61
32199098 2020
29
New paradigms of clinical trial design for genetic prion diseases. 61
32199088 2020
30
Plasma total prion protein as a potential biomarker for neurodegenerative dementia: diagnostic accuracy in the spectrum of prion diseases. 61
31216593 2020
31
A case report of genetic prion disease with two different PRNP variants. 61
31953922 2020
32
Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients. 61
31795176 2019
33
Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as conversion disorder. 61
31413052 2019
34
Age at onset in genetic prion disease and the design of preventive clinical trials. 61
31171647 2019
35
Mitochondrial dysfunction in preclinical genetic prion disease: A target for preventive treatment? 61
30423473 2019
36
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases. 61
30062673 2019
37
The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients. 61
30755683 2019
38
Experimental models to study prion disease pathogenesis and identify potential therapeutic compounds. 61
30878006 2019
39
Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know. 61
31616476 2019
40
Profiles of 14-3-3 and Total Tau in CSF Samples of Chinese Patients of Different Genetic Prion Diseases. 61
31551692 2019
41
Two distinct prions in fatal familial insomnia and its sporadic form. 61
32954274 2019
42
Impaired transmissibility of atypical prions from genetic CJDG114V. 61
30109268 2018
43
Cerebrospinal fluid neurofilament light levels in neurodegenerative dementia: Evaluation of diagnostic accuracy in the differential diagnosis of prion diseases. 61
29391125 2018
44
Autologous neural progenitor cell transplantation into newborn mice modeling for E200K genetic prion disease delays disease progression. 61
29494865 2018
45
Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene. 61
29382530 2018
46
Prion disease. 61
29478593 2018
47
Agrypnia excitata and obstructive apnea in a patient with fatal familial insomnia from China: A case report. 61
29245265 2017
48
Continues administration of Nano-PSO significantly increased survival of genetic CJD mice. 61
28847567 2017
49
Familial Creutzfeldt-Jakob Disease Cluster Among an African American Family. 61
27997483 2017
50
YKL-40 in the brain and cerebrospinal fluid of neurodegenerative dementias. 61
29126445 2017

Variations for Genetic Prion Disease

ClinVar genetic disease variations for Genetic Prion Disease:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRNP NM_000311.5(PRNP):c.435T>G (p.Tyr145Ter) SNV Pathogenic 21147 rs80356710 20:4680301-4680301 20:4699655-4699655
2 PRNP NM_000311.5(PRNP):c.478C>T (p.Gln160Ter) SNV Pathogenic 21148 rs80356711 20:4680344-4680344 20:4699698-4699698
3 PRNP NM_000311.5(PRNP):c.623G>A (p.Arg208His) SNV Pathogenic 13411 rs74315412 20:4680489-4680489 20:4699843-4699843
4 PRNP NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) SNV Pathogenic 13395 rs74315401 20:4680171-4680171 20:4699525-4699525
5 PRNP NM_000311.5(PRNP):c.313C>A (p.Pro105Thr) SNV Pathogenic 13413 rs74315414 20:4680179-4680179 20:4699533-4699533
6 PRNP NM_000311.5(PRNP):c.313C>T (p.Pro105Ser) SNV Pathogenic 13415 rs74315414 20:4680179-4680179 20:4699533-4699533
7 PRNP NM_000311.5(PRNP):c.314C>T (p.Pro105Leu) SNV Pathogenic 13404 rs11538758 20:4680180-4680180 20:4699534-4699534
8 PRNP NM_000311.5(PRNP):c.350C>T (p.Ala117Val) SNV Pathogenic 13396 rs74315402 20:4680216-4680216 20:4699570-4699570
9 PRNP NM_000311.5(PRNP):c.532G>A (p.Asp178Asn) SNV Pathogenic 39359 rs74315403 20:4680398-4680398 20:4699752-4699752
10 PRNP NM_000311.5(PRNP):c.538G>A (p.Val180Ile) SNV Pathogenic 13405 rs74315408 20:4680404-4680404 20:4699758-4699758
11 PRNP NM_000311.5(PRNP):c.547A>G (p.Thr183Ala) SNV Pathogenic 13407 rs74315411 20:4680413-4680413 20:4699767-4699767
12 PRNP NM_000311.5(PRNP):c.560A>G (p.His187Arg) SNV Pathogenic 13412 rs74315413 20:4680426-4680426 20:4699780-4699780
13 PRNP NM_000311.5(PRNP):c.593T>C (p.Phe198Ser) SNV Pathogenic 13401 rs74315405 20:4680459-4680459 20:4699813-4699813
14 PRNP NM_000311.5(PRNP):c.628G>A (p.Val210Ile) SNV Pathogenic 13403 rs74315407 20:4680494-4680494 20:4699848-4699848
15 PRNP NM_000311.5(PRNP):c.650A>G (p.Gln217Arg) SNV Pathogenic 13402 rs74315406 20:4680516-4680516 20:4699870-4699870
16 PRNP NM_000311.5(PRNP):c.695T>G (p.Met232Arg) SNV Pathogenic 13406 rs74315409 20:4680561-4680561 20:4699915-4699915
17 PRNP NM_000311.5(PRNP):c.154_177[(6_13)] Microsatellite Pathogenic 13394 rs193922906 20:4680026-4680049 20:4699379-4699380
18 PRNP NM_000311.5(PRNP):c.598G>A (p.Glu200Lys) SNV Pathogenic 13398 rs28933385 20:4680464-4680464 20:4699818-4699818
19 PRNP NM_000311.5(PRNP):c.*460G>T SNV Uncertain significance 898128 20:4681088-4681088 20:4700442-4700442
20 PRNP NM_000311.4(PRNP):c.-211G>A SNV Uncertain significance 338640 rs886056739 20:4666958-4666958 20:4686312-4686312
21 PRNP NM_000311.4(PRNP):c.-310T>A SNV Uncertain significance 338638 rs765471807 20:4666859-4666859 20:4686213-4686213
22 PRNP NM_000311.4(PRNP):c.-206C>G SNV Uncertain significance 338641 rs886056740 20:4666963-4666963 20:4686317-4686317
23 PRNP NM_000311.5(PRNP):c.-22C>G SNV Uncertain significance 338642 rs886056741 20:4667147-4667147 20:4686501-4686501
24 PRNP NM_000311.5(PRNP):c.*115G>A SNV Uncertain significance 338656 rs746943389 20:4680743-4680743 20:4700097-4700097
25 PRNP NM_000311.5(PRNP):c.*358C>A SNV Uncertain significance 338659 rs886056744 20:4680986-4680986 20:4700340-4700340
26 PRNP NM_000311.5(PRNP):c.-21G>T SNV Uncertain significance 338643 rs886056742 20:4667148-4667148 20:4686502-4686502
27 PRNP NM_000311.5(PRNP):c.*216G>A SNV Uncertain significance 338658 rs748532463 20:4680844-4680844 20:4700198-4700198
28 PRNP NM_000311.5(PRNP):c.*1588C>T SNV Uncertain significance 338675 rs886056750 20:4682216-4682216 20:4701570-4701570
29 PRNP NM_000311.5(PRNP):c.*994C>T SNV Uncertain significance 338668 rs886056746 20:4681622-4681622 20:4700976-4700976
30 PRNP NM_000311.5(PRNP):c.*1193G>A SNV Uncertain significance 338671 rs886056748 20:4681821-4681821 20:4701175-4701175
31 PRNP NM_000311.5(PRNP):c.*1466G>C SNV Uncertain significance 338674 rs886056749 20:4682094-4682094 20:4701448-4701448
32 PRNP NM_000311.5(PRNP):c.*407T>G SNV Uncertain significance 338660 rs886056745 20:4681035-4681035 20:4700389-4700389
33 PRNP NM_000311.5(PRNP):c.*1281A>G SNV Uncertain significance 338672 rs540167431 20:4681909-4681909 20:4701263-4701263
34 PRNP NM_000311.5(PRNP):c.*1035T>G SNV Uncertain significance 338669 rs886056747 20:4681663-4681663 20:4701017-4701017
35 PRNP NM_000311.5(PRNP):c.*874C>T SNV Uncertain significance 338666 rs760516358 20:4681502-4681502 20:4700856-4700856
36 PRNP NM_000311.5(PRNP):c.143G>A (p.Arg48His) SNV Uncertain significance 895060 20:4680009-4680009 20:4699363-4699363
37 PRNP NM_000311.5(PRNP):c.*1134T>A SNV Uncertain significance 895124 20:4681762-4681762 20:4701116-4701116
38 PRNP NM_000311.5(PRNP):c.*1328T>C SNV Uncertain significance 895125 20:4681956-4681956 20:4701310-4701310
39 PRNP NM_000311.5(PRNP):c.497T>C (p.Met166Thr) SNV Uncertain significance 896503 20:4680363-4680363 20:4699717-4699717
40 PRNP NM_000311.5(PRNP):c.565G>A (p.Val189Ile) SNV Uncertain significance 896504 20:4680431-4680431 20:4699785-4699785
41 PRNP NM_000311.5(PRNP):c.76C>G (p.Pro26Ala) SNV Uncertain significance 899177 20:4679942-4679942 20:4699296-4699296
42 PRNP NM_000311.5(PRNP):c.654C>T (p.Tyr218=) SNV Likely benign 896505 20:4680520-4680520 20:4699874-4699874
43 PRNP NM_000311.5(PRNP):c.*98_*100TCT[1] Microsatellite Likely benign 338655 rs570683075 20:4680725-4680727 20:4700079-4700081
44 PRNP NM_000311.5(PRNP):c.5C>T (p.Ala2Val) SNV Likely benign 899176 20:4679871-4679871 20:4699225-4699225
45 PRNP NM_000311.5(PRNP):c.424G>A (p.Gly142Ser) SNV Likely benign 338652 rs150351644 20:4680290-4680290 20:4699644-4699644
46 PRNP NM_000311.5(PRNP):c.160G>A (p.Gly54Ser) SNV Likely benign 338646 rs763524380 20:4680026-4680026 20:4699380-4699380
47 PRNP NM_000311.5(PRNP):c.246A>G (p.Gly82=) SNV Benign 338648 rs62643364 20:4680112-4680112 20:4699466-4699466
48 PRNP NM_000311.5(PRNP):c.204T>C (p.Pro68=) SNV Benign 338647 rs532493114 20:4680070-4680070 20:4699424-4699424
49 PRNP NM_000311.5(PRNP):c.512A>G (p.Asn171Ser) SNV Benign 13408 rs16990018 20:4680378-4680378 20:4699732-4699732
50 PRNP NM_000311.5(PRNP):c.655G>A (p.Glu219Lys) SNV Benign 13409 rs1800014 20:4680521-4680521 20:4699875-4699875

Expression for Genetic Prion Disease

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

Pathways for Genetic Prion Disease

GO Terms for Genetic Prion Disease

Sources for Genetic Prion Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....