MCID: FML118
MIFTS: 26

Familial Creutzfeldt-Jakob Disease malady

Genetic category

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 fatal familial insomnia and creutzfeldt-jakob syndrome. An important gene associated with Familial Creutzfeldt-Jakob Disease is PRNP (prion protein). The compounds formate and guanidine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotype reproductive system.

Aliases & Classifications for Familial Creutzfeldt-Jakob Disease

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20GeneTests, 45Novoseek, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

familial creutzfeldt-jakob disease 20 45
creutzfeldt-jakob disease, familial 61


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

Clinical Features for Familial Creutzfeldt-Jakob Disease

Drugs & Therapeutics for Familial Creutzfeldt-Jakob Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Familial Creutzfeldt-Jakob Disease

Search CenterWatch 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

Animal Models for Familial Creutzfeldt-Jakob Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Familial Creutzfeldt-Jakob Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1MSMB, PRNP, PRND, APOE

Publications for Familial Creutzfeldt-Jakob Disease

Sources:
51PubMed
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Articles related to Familial Creutzfeldt-Jakob Disease:

(show top 50)    (show all 79)
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
Familial Creutzfeldt-Jakob disease with a mutation at codon 180 presenting with an atypical phenotype. (22999564)
2013
3
Spreading brain lesions in a familial Creutzfeldt-Jakob disease with V180I mutation over 4 years. (23176099)
2012
4
Early detection of familial Creutzfeldt-Jakob disease on diffusion-weighted imaging before symptom onset. (22640903)
2012
5
Characterization of movement disorders in patients with familial Creutzfeldt-Jakob disease carrying the E200K mutation. (22675855)
2012
6
Pruritus in familial Creutzfeldt-Jakob disease: a common symptom associated with central nervous system pathology. (20725737)
2011
7
Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis. (20978903)
2011
8
Cerebral hypermetabolism demonstrated by FDG PET in familial Creutzfeldt-Jakob disease. (21716034)
2011
9
Familial Creutzfeldt-Jakob disease with V180I mutation. (20592908)
2010
10
Rapidly progressive Creutzfeldt-Jakob disease in patients with Familial Mediterranean Fever. (20113338)
2010
11
Familial Creutzfeldt-Jakob disease with E200K mutation presenting with neurosensorial hypoacusis. (21734919)
2009
12
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
13
Familial Creutzfeldt-Jakob disease presenting as epilepsia partialis continua. (19017568)
2008
14
MR imaging of familial Creutzfeldt-Jakob disease: a blinded and controlled study. (18635614)
2008
15
Familial Creutzfeldt-Jakob disease with E200K mutation presenting with neurosensorial hypoacusis. (17172576)
2007
16
Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques. (16533975)
2006
17
Diffusion-weighted MRI in familial Creutzfeldt-Jakob disease with the codon 200 mutation in the prion protein gene. (15850581)
2005
18
Hereditary Creutzfeldt-Jakob disease and fatal familial insomnia. (12733424)
2003
19
Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease. (11568919)
2001
20
Psychotic symptoms presented in familial Creutzfeldt-Jakob disease, subtype E200K. (11681772)
2001
21
Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene. (11733840)
2001
22
Diffusion-weighted MRI in two cases of familial Creutzfeldt--Jakob disease. (11239951)
2001
23
Familial Creutzfeldt-Jakob disease: a neuropsychological case study. (14590560)
2000
24
Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia. (10787305)
2000
25
Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene (10553985)
1999
26
Identification of the prion protein allotypes which accumulate in the brain of sporadic and familial Creutzfeldt-Jakob disease patients. (9142120)
1997
27
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: a tale of two diseases with the same genetic mutation. (8575203)
1996
28
Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation. (8618678)
1996
29
Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation. (8797471)
1996
30
Apolipoprotein E in sporadic and familial Creutzfeldt-Jakob disease. (8584252)
1995
31
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features. (7767490)
1995
32
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. (7908444)
1994
33
Familial Creutzfeldt-Jakob disease: three autopsy cases of the panencephalopathic type. (7955663)
1994
34
Small virus-like structure in brains from cases of sporadic and familial Creutzfeldt-Jakob disease. (7934349)
1994
35
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
36
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. (1439789)
1992
37
A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease. (1357594)
1992
38
Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy. (1404799)
1992
39
The phenotypic expression of different mutations in transmissible familial Creutzfeldt-Jakob disease. (1684754)
1991
40
The molecular genetics of familial Creutzfeldt-Jakob disease in France. (1757800)
1991
41
Familial Creutzfeldt-Jakob disease in Finland: epidemiological, clinical, pathological and molecular genetic studies. (1684756)
1991
42
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. (1683708)
1991
43
Familial Creutzfeldt-Jakob disease with temporal and spatial separation of affected members. (2253724)
1990
44
Familial Creutzfeldt-Jakob disease in Japan. Three cases in a family with white matter involvement. (3884745)
1985
45
Familial Creutzfeldt-Jakob disease in Chile. (6343559)
1983
46
Supranuclear gaze palsy in familial Creutzfeldt-Jakob disease. (6351815)
1983
47
Familial Creutzfeldt-Jakob disease with extensive degeneration of white matter. Ultrastructure of peripheral nerve. (6358417)
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

Genetic Variations for Familial Creutzfeldt-Jakob Disease

Expression for genes affiliated with Familial Creutzfeldt-Jakob Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Creutzfeldt-Jakob Disease

Search GEO for disease gene expression data for Familial Creutzfeldt-Jakob Disease.

Pathways for genes affiliated with Familial Creutzfeldt-Jakob Disease

Compounds for genes affiliated with Familial Creutzfeldt-Jakob Disease

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

idCompoundScoreTop Affiliating Genes
1formate459.3PRNP, APOE
2guanidine45 11 2411.2APOE, PRNP
3sodium dodecylsulfate459.1PRNP, APOE
4biotin45 11 2410.8GSS, APOE
5valine458.8PRNP, PRND, APOE
6guanidine hydrochloride458.7MSMB, PRNP, APOE
7glutamate458.7GSS, 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 to membraneGO:0312259.5PRNP, PRND

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

idNameGO IDScoreTop Affiliating Genes
1cellular copper ion homeostasisGO:0068789.5PRNP, PRND
2response to cadmium ionGO:0466869.4GSS, PRNP
3response to oxidative stressGO:0069799.2GSS, PRNP
4agingGO:0075689.1GSS, APOE

Molecular functions related to Familial Creutzfeldt-Jakob Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:0055079.5PRNP, PRND

Products for genes affiliated with Familial Creutzfeldt-Jakob Disease

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  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Creutzfeldt-Jakob Disease

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet