MCID: FML118
MIFTS: 34

Familial Creutzfeldt-Jakob Disease malady

Genetic diseases, Rare diseases, Neuronal diseases, Infectious diseases, Mental diseases categories
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Summaries for Familial Creutzfeldt-Jakob Disease

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MalaCards: Familial Creutzfeldt-Jakob Disease, also known as creutzfeldt-jakob disease, familial, is related to creutzfeldt-jakob disease and kuru. An important gene associated with Familial Creutzfeldt-Jakob Disease is PRNP (prion protein). The compounds formate and methionine have been mentioned in the context of this disorder. Affiliated tissues include brain and testes, and related mouse phenotypes are other and reproductive system.

Aliases & Classifications for Familial Creutzfeldt-Jakob Disease

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20GeneTests, 45Novoseek, 62UMLS
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Classifications:



Aliases & Descriptions:

familial creutzfeldt-jakob disease 20 45
creutzfeldt-jakob disease, familial 62


Related Diseases for Familial Creutzfeldt-Jakob Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Familial Creutzfeldt-Jakob Disease:



Diseases related to familial creutzfeldt-jakob disease

Symptoms for Familial Creutzfeldt-Jakob Disease

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Drugs & Therapeutics for Familial Creutzfeldt-Jakob Disease

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center for Familial Creutzfeldt-Jakob Disease

Genetic Tests for Familial Creutzfeldt-Jakob Disease

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20GeneTests
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Genetic tests related to Familial Creutzfeldt-Jakob Disease:

id Genetic test Affiliating Genes
1 Familial Creutzfeldt-Jakob Disease20 PRNP

Anatomical Context for Familial Creutzfeldt-Jakob Disease

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33MalaCards
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MalaCards organs/tissues related to Familial Creutzfeldt-Jakob Disease:

33
Brain, Testes

Animal Models for Familial Creutzfeldt-Jakob Disease or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Familial Creutzfeldt-Jakob Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.4PRNP, APOE
2MP:00053897.9MSMB, PRNP, PRND, APOE
3MP:00053877.7APOE, PRND, PRNP, MSMB

Publications for Familial Creutzfeldt-Jakob Disease

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52PubMed
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Articles related to Familial Creutzfeldt-Jakob Disease:

(show top 50)    (show all 72)
idTitleAuthorsYear
1
Gerstmann-StrAoussler-Scheinker syndrome with the P102L pathogenic mutation presenting as familial Creutzfeldt-Jakob disease: a case report and review of the literature. (22494260)
2013
2
Spreading brain lesions in a familial Creutzfeldt-Jakob disease with V180I mutation over 4 years. (23176099)
2012
3
Familial Creutzfeldt-Jakob disease with V180I mutation. (20592908)
2010
4
Putaminal volume and diffusion in early familial Creutzfeldt-Jakob disease. (19828153)
2010
5
The role of stress and anxiety in the onset of familial Creutzfeldt-Jakob Disease (CJD): review. (19051123)
2009
6
Familial Creutzfeldt-Jakob disease with a V180I mutation: comparative analysis with pathological findings and diffusion-weighted images. (20051687)
2009
7
Familial Creutzfeldt-Jakob disease with E200K mutation presenting with neurosensorial hypoacusis. (21734919)
2009
8
Fluorine 18-labeled fluorodeoxyglucose positron emission tomography in familial Creutzfeldt-Jakob disease. (18852360)
2008
9
Familial Creutzfeldt-Jakob Disease with a codon 200 mutation presenting as thalamic syndrome: diagnosis by single photon emission computed tomography using (99m)Tc-ethyl cysteinate dimer. (18176009)
2008
10
Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques. (16533975)
2006
11
A case of familial Creutzfeldt-Jakob disease presenting with dry cough. (16736740)
2006
12
Familial Creutzfeldt-Jakob disease initially presenting with alien hand syndrome. (12021958)
2002
13
A cluster of familial Creutzfeldt-Jakob disease mutations recapitulate conserved residues in Doppel: a case of molecular mimicry? (12459456)
2002
14
Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease. (11568919)
2001
15
Psychotic symptoms presented in familial Creutzfeldt-Jakob disease, subtype E200K. (11681772)
2001
16
Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene. (11733840)
2001
17
New haplotype of familial Creutzfeldt-Jakob disease with a codon 200 mutation and a codon 219 polymorphism of the prion protein gene in a Japanese family. (10672318)
2000
18
Familial Creutzfeldt-Jakob disease: a neuropsychological case study. (14590560)
2000
19
Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia. (10787305)
2000
20
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. (10090891)
1999
21
Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene (10553985)
1999
22
A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein. (10360778)
1999
23
Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene. (10970246)
1999
24
Identification of the prion protein allotypes which accumulate in the brain of sporadic and familial Creutzfeldt-Jakob disease patients. (9142120)
1997
25
Familial Creutzfeldt-Jakob disease. Codon 200 prion disease in Libyan Jews. (9279329)
1997
26
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. (8909447)
1996
27
Apolipoprotein E in sporadic and familial Creutzfeldt-Jakob disease. (8584252)
1995
28
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. (7908444)
1994
29
Familial Creutzfeldt-Jakob disease. (8030961)
1994
30
Familial Creutzfeldt-Jakob disease: three autopsy cases of the panencephalopathic type. (7955663)
1994
31
Small virus-like structure in brains from cases of sporadic and familial Creutzfeldt-Jakob disease. (7934349)
1994
32
Synthetic peptides corresponding to different mutated regions of the amyloid gene in familial Creutzfeldt-Jakob disease show enhanced in vitro formation of morphologically different amyloid fibrils. (8506284)
1993
33
Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20. (1469441)
1992
34
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. (1439789)
1992
35
A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease. (1357594)
1992
36
Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutation. (1353342)
1992
37
The phenotypic expression of different mutations in transmissible familial Creutzfeldt-Jakob disease. (1684754)
1991
38
The molecular genetics of familial Creutzfeldt-Jakob disease in France. (1757800)
1991
39
Familial Creutzfeldt-Jakob disease in Finland: epidemiological, clinical, pathological and molecular genetic studies. (1684756)
1991
40
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. (1683708)
1991
41
An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease. (2159587)
1990
42
Familial Creutzfeldt-Jakob disease with temporal and spatial separation of affected members. (2253724)
1990
43
Familial Creutzfeldt-Jakob disease without periodic EEG activity. (2252372)
1990
44
Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-StrAoussler-Scheinker's syndrome. (2572450)
1989
45
Familial Creutzfeldt-Jakob disease in France: epidemiological implications. (3542553)
1986
46
Familial Creutzfeldt-Jakob disease in Chile. (6343559)
1983
47
Supranuclear gaze palsy in familial Creutzfeldt-Jakob disease. (6351815)
1983
48
Histocompatibility antigens in familial Creutzfeldt-Jakob disease. (6988548)
1980
49
Familial Creutzfeldt-Jakob disease. Autosomal dominance in 14 members over 3 generations. (6999131)
1980
50
Familial Creutzfeldt-Jakob disease. (390100)
1979

Variations for Familial Creutzfeldt-Jakob Disease

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Expression for genes affiliated with Familial Creutzfeldt-Jakob Disease

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Creutzfeldt-Jakob Disease

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Pathways for genes affiliated with Familial Creutzfeldt-Jakob Disease

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Compounds for genes affiliated with Familial Creutzfeldt-Jakob Disease

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45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Familial Creutzfeldt-Jakob Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1formate459.4APOE, PRNP
2methionine459.3PRNP, PRND
3guanidine45 24 1111.3PRNP, APOE
4sodium dodecylsulfate459.1PRNP, APOE
5valine458.9PRNP, PRND, APOE
6guanidine hydrochloride458.7MSMB, PRNP, APOE

GO Terms for genes affiliated with Familial Creutzfeldt-Jakob Disease

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16Gene Ontology
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Cellular components related to Familial Creutzfeldt-Jakob Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1anchored component of membraneGO:0312259.3PRNP, PRND

Biological processes related to Familial Creutzfeldt-Jakob Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homooligomerizationGO:0512609.3PRNP, PRND

Products for genes affiliated with Familial Creutzfeldt-Jakob Disease

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Sources for Familial Creutzfeldt-Jakob Disease

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet