FCJD
MCID: FML118
MIFTS: 28

Familial Creutzfeldt-Jakob Disease (FCJD) malady

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

Aliases & Classifications for Familial Creutzfeldt-Jakob Disease

Aliases & Descriptions for Familial Creutzfeldt-Jakob Disease:

Name: Familial Creutzfeldt-Jakob Disease 24 52
Creutzfeldt-Jakob Disease, Familial 69
Fcjd 24

Classifications:



Summaries for Familial Creutzfeldt-Jakob Disease

MalaCards based summary : Familial Creutzfeldt-Jakob Disease, also known as creutzfeldt-jakob disease, familial, is related to creutzfeldt-jakob disease and homocystinuria caused by cystathionine beta-synthase deficiency. An important gene associated with Familial Creutzfeldt-Jakob Disease is PRNP (Prion Protein). The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include brain and testes, and related phenotypes are immune system and reproductive system

Related Diseases for Familial Creutzfeldt-Jakob Disease

Graphical network of the top 20 diseases related to Familial Creutzfeldt-Jakob Disease:



Diseases related to Familial Creutzfeldt-Jakob Disease

Symptoms & Phenotypes for Familial Creutzfeldt-Jakob Disease

MGI Mouse Phenotypes related to Familial Creutzfeldt-Jakob Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.35 APOE LAMA3 MSMB PRND PRNP
2 reproductive system MP:0005389 8.92 APOE MSMB PRND PRNP

Drugs & Therapeutics for Familial Creutzfeldt-Jakob Disease

Drugs for Familial Creutzfeldt-Jakob Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins
2 Antibodies

Interventional clinical trials:


id Name Status NCT ID Phase
1 Therapeutic Antibodies Against Prion Diseases From PRNP Mutation Carriers Recruiting NCT02837705
2 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
3 Enhanced CJD Surveillance in the Older Population Recruiting NCT02629640

Search NIH Clinical Center for Familial Creutzfeldt-Jakob Disease

Genetic Tests for Familial Creutzfeldt-Jakob Disease

Genetic tests related to Familial Creutzfeldt-Jakob Disease:

id Genetic test Affiliating Genes
1 Familial Creutzfeldt-Jakob Disease 24 PRNP

Anatomical Context for Familial Creutzfeldt-Jakob Disease

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

39
Brain, Testes

Publications for Familial Creutzfeldt-Jakob Disease

Articles related to Familial Creutzfeldt-Jakob Disease:

(show top 50) (show all 85)
id Title Authors Year
1
Familial Creutzfeldt-Jakob Disease Cluster Among an African American Family. ( 27997483 )
2016
2
Roles of methionine oxidation in E200K prion protein misfolding: Implications for the mechanism of pathogenesis in E200K linked familial Creutzfeldt-Jakob disease. ( 26779934 )
2016
3
Clinical radiological correlation in E200K familial Creutzfeldt-Jakob disease. ( 27624725 )
2016
4
CSF tau correlates with the degree of cortical involvement in E200K familial Creutzfeldt-Jakob disease. ( 27721036 )
2016
5
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset. ( 27803826 )
2016
6
Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing. ( 27929804 )
2016
7
Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease. ( 26806765 )
2016
8
Early pathology in sleep studies of patients with familial Creutzfeldt-Jakob disease. ( 27251902 )
2016
9
Characterization of sleep disorders in patients with E200K familial Creutzfeldt-Jakob disease. ( 25451855 )
2015
10
Early-onset spastic paraparesis as presenting sign of familial Creutzfeldt-Jakob disease. ( 26578040 )
2015
11
Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD. ( 25522698 )
2015
12
Biological network inferences for a protection mechanism against familial Creutzfeldt-Jakob disease with E200K pathogenic mutation. ( 25149502 )
2014
13
Familial Creutzfeldt-Jakob disease with M232R mutation presented with corticobasal syndrome. ( 25515787 )
2014
14
Familial Creutzfeldt-Jakob disease with a mutation at codon 180 presenting with an atypical phenotype. ( 22999564 )
2013
15
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
16
Early detection of familial Creutzfeldt-Jakob disease on diffusion-weighted imaging before symptom onset. ( 22640903 )
2012
17
Spreading brain lesions in a familial Creutzfeldt-Jakob disease with V180I mutation over 4 years. ( 23176099 )
2012
18
Characterization of movement disorders in patients with familial Creutzfeldt-Jakob disease carrying the E200K mutation. ( 22675855 )
2012
19
Pruritus in familial Creutzfeldt-Jakob disease: a common symptom associated with central nervous system pathology. ( 20725737 )
2011
20
Cerebral hypermetabolism demonstrated by FDG PET in familial Creutzfeldt-Jakob disease. ( 21716034 )
2011
21
Familial Creutzfeldt-Jakob disease with V180I mutation. ( 20592908 )
2010
22
Putaminal volume and diffusion in early familial Creutzfeldt-Jakob disease. ( 19828153 )
2010
23
Familial Creutzfeldt-Jakob disease with E200K mutation presenting with neurosensorial hypoacusis. ( 21734919 )
2009
24
The role of stress and anxiety in the onset of familial Creutzfeldt-Jakob Disease (CJD): review. ( 19051123 )
2009
25
Familial Creutzfeldt-Jakob disease with a V180I mutation: comparative analysis with pathological findings and diffusion-weighted images. ( 20051687 )
2009
26
Codistribution of amyloid beta plaques and spongiform degeneration in familial Creutzfeldt-Jakob disease with the E200K-129M haplotype. ( 19822779 )
2009
27
Fluorine 18-labeled fluorodeoxyglucose positron emission tomography in familial Creutzfeldt-Jakob disease. ( 18852360 )
2008
28
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
29
Familial Creutzfeldt-Jakob disease presenting as epilepsia partialis continua. ( 19017568 )
2008
30
MR imaging of familial Creutzfeldt-Jakob disease: a blinded and controlled study. ( 18635614 )
2008
31
Familial Creutzfeldt-Jakob disease with E200K mutation presenting with neurosensorial hypoacusis. ( 17172576 )
2007
32
A case of familial Creutzfeldt-Jakob disease presenting with dry cough. ( 16736740 )
2006
33
Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques. ( 16533975 )
2006
34
Diffusion-weighted MRI in familial Creutzfeldt-Jakob disease with the codon 200 mutation in the prion protein gene. ( 15850581 )
2005
35
A cluster of familial Creutzfeldt-Jakob disease mutations recapitulate conserved residues in Doppel: a case of molecular mimicry? ( 12459456 )
2002
36
Familial Creutzfeldt-Jakob disease initially presenting with alien hand syndrome. ( 12021958 )
2002
37
Diffusion-weighted MRI in two cases of familial Creutzfeldt--Jakob disease. ( 11239951 )
2001
38
Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease. ( 11568919 )
2001
39
Psychotic symptoms presented in familial Creutzfeldt-Jakob disease, subtype E200K. ( 11681772 )
2001
40
Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene. ( 11733840 )
2001
41
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
42
Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion. ( 10896268 )
2000
43
Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia. ( 10787305 )
2000
44
Familial Creutzfeldt-Jakob disease: a neuropsychological case study. ( 14590560 )
2000
45
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. ( 10090891 )
1999
46
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
47
Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene ( 10553985 )
1999
48
Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene. ( 10970246 )
1999
49
Familial Creutzfeldt-Jakob disease. Codon 200 prion disease in Libyan Jews. ( 9279329 )
1997
50
Identification of the prion protein allotypes which accumulate in the brain of sporadic and familial Creutzfeldt-Jakob disease patients. ( 9142120 )
1997

Variations for Familial Creutzfeldt-Jakob Disease

Expression for Familial Creutzfeldt-Jakob Disease

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

Pathways for Familial Creutzfeldt-Jakob Disease

GO Terms for Familial Creutzfeldt-Jakob Disease

Cellular components related to Familial Creutzfeldt-Jakob Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.26 APOE LAMA3 MSMB PRND
2 anchored component of membrane GO:0031225 8.62 PRND PRNP

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

id Name GO ID Score Top Affiliating Genes
1 protein homooligomerization GO:0051260 9.26 PRND PRNP
2 response to oxidative stress GO:0006979 9.16 APOE PRNP
3 cellular copper ion homeostasis GO:0006878 8.96 PRND PRNP
4 negative regulation of long-term synaptic potentiation GO:1900272 8.62 APOE PRNP

Molecular functions related to Familial Creutzfeldt-Jakob Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.96 PRND PRNP
2 beta-amyloid binding GO:0001540 8.62 APOE PRNP

Sources for Familial Creutzfeldt-Jakob Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
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43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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