MCID: FML118
MIFTS: 28

Familial Creutzfeldt-Jakob Disease malady

Categories: Genetic diseases, Rare diseases, Infectious diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Familial Creutzfeldt-Jakob Disease

About this section
Sources:
22GeneTests, 47Novoseek, 65UMLS
See all MalaCards sources

Aliases & Descriptions for Familial Creutzfeldt-Jakob Disease:

Name: Familial Creutzfeldt-Jakob Disease 22 47
Creutzfeldt-Jakob Disease, Familial 65
 
Fcjd 22

Classifications:



External Ids:

UMLS65 C0751254

Summaries for Familial Creutzfeldt-Jakob Disease

About this section
MalaCards based summary: Familial Creutzfeldt-Jakob Disease, also known as creutzfeldt-jakob disease, familial, is related to creutzfeldt-jakob disease and giant axonal neuropathy. An important gene associated with Familial Creutzfeldt-Jakob Disease is PRNP (Prion Protein). Affiliated tissues include breast, prostate and liver, and related mouse phenotype reproductive system.

Related Diseases for Familial Creutzfeldt-Jakob Disease

About this section

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

About this section

Drugs & Therapeutics for Familial Creutzfeldt-Jakob Disease

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Enhanced CJD Surveillance in the Older PopulationRecruitingNCT02629640

Search NIH Clinical Center for Familial Creutzfeldt-Jakob Disease

Genetic Tests for Familial Creutzfeldt-Jakob Disease

About this section

Genetic tests related to Familial Creutzfeldt-Jakob Disease:

id Genetic test Affiliating Genes
1 Familial Creutzfeldt-Jakob Disease22 PRNP

Anatomical Context for Familial Creutzfeldt-Jakob Disease

About this section

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

33
Breast, Prostate, Liver, Myeloid, Endothelial, B cells, T cells

Animal Models for Familial Creutzfeldt-Jakob Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Familial Creutzfeldt-Jakob Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.4APOE, MSMB, PRND, PRNP

Publications for Familial Creutzfeldt-Jakob Disease

About this section

Articles related to Familial Creutzfeldt-Jakob Disease:

(show top 50)    (show all 79)
idTitleAuthorsYear
1
Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease. (26806765)
2016
2
Early-onset spastic paraparesis as presenting sign of familial Creutzfeldt-Jakob disease. (26578040)
2015
3
Characterization of sleep disorders in patients with E200K familial Creutzfeldt-Jakob disease. (25451855)
2015
4
Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD. (25522698)
2015
5
Biological network inferences for a protection mechanism against familial Creutzfeldt-Jakob disease with E200K pathogenic mutation. (25149502)
2014
6
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
7
Spreading brain lesions in a familial Creutzfeldt-Jakob disease with V180I mutation over 4 years. (23176099)
2012
8
Familial Creutzfeldt-Jakob disease with V180I mutation. (20592908)
2010
9
Putaminal volume and diffusion in early familial Creutzfeldt-Jakob disease. (19828153)
2010
10
The role of stress and anxiety in the onset of familial Creutzfeldt-Jakob Disease (CJD): review. (19051123)
2009
11
Familial Creutzfeldt-Jakob disease with a V180I mutation: comparative analysis with pathological findings and diffusion-weighted images. (20051687)
2009
12
Fluorine 18-labeled fluorodeoxyglucose positron emission tomography in familial Creutzfeldt-Jakob disease. (18852360)
2008
13
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
14
Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques. (16533975)
2006
15
Familial Creutzfeldt-Jakob disease initially presenting with alien hand syndrome. (12021958)
2002
16
Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease. (11568919)
2001
17
Psychotic symptoms presented in familial Creutzfeldt-Jakob disease, subtype E200K. (11681772)
2001
18
Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene. (11733840)
2001
19
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
20
Familial Creutzfeldt-Jakob disease: a neuropsychological case study. (14590560)
2000
21
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. (10090891)
1999
22
Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene (10553985)
1999
23
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
24
Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene. (10970246)
1999
25
Identification of the prion protein allotypes which accumulate in the brain of sporadic and familial Creutzfeldt-Jakob disease patients. (9142120)
1997
26
Familial Creutzfeldt-Jakob disease. Codon 200 prion disease in Libyan Jews. (9279329)
1997
27
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. (8909447)
1996
28
Apolipoprotein E in sporadic and familial Creutzfeldt-Jakob disease. (8584252)
1995
29
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. (7908444)
1994
30
Familial Creutzfeldt-Jakob disease. (8030961)
1994
31
Familial Creutzfeldt-Jakob disease: three autopsy cases of the panencephalopathic type. (7955663)
1994
32
Small virus-like structure in brains from cases of sporadic and familial Creutzfeldt-Jakob disease. (7934349)
1994
33
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
34
Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20. (1469441)
1992
35
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. (1439789)
1992
36
A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease. (1357594)
1992
37
Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutation. (1353342)
1992
38
The phenotypic expression of different mutations in transmissible familial Creutzfeldt-Jakob disease. (1684754)
1991
39
The molecular genetics of familial Creutzfeldt-Jakob disease in France. (1757800)
1991
40
Familial Creutzfeldt-Jakob disease in Finland: epidemiological, clinical, pathological and molecular genetic studies. (1684756)
1991
41
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. (1683708)
1991
42
An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease. (2159587)
1990
43
Familial Creutzfeldt-Jakob disease with temporal and spatial separation of affected members. (2253724)
1990
44
Familial Creutzfeldt-Jakob disease without periodic EEG activity. (2252372)
1990
45
Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-StrAoussler-Scheinker's syndrome. (2572450)
1989
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

About this section

Expression for genes affiliated with Familial Creutzfeldt-Jakob Disease

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

Pathways for genes affiliated with Familial Creutzfeldt-Jakob Disease

About this section

GO Terms for genes affiliated with Familial Creutzfeldt-Jakob Disease

About this section

Biological processes related to Familial Creutzfeldt-Jakob Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to oxidative stressGO:00069799.5APOE, PRNP

Sources for Familial Creutzfeldt-Jakob Disease

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet