MCID: FML118
MIFTS: 27

Familial Creutzfeldt-Jakob Disease malady

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

Aliases & Classifications for Familial Creutzfeldt-Jakob Disease

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Sources:
24GeneTests, 50Novoseek, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Familial Creutzfeldt-Jakob Disease:

Name: Familial Creutzfeldt-Jakob Disease 24 50
Creutzfeldt-Jakob Disease, Familial 68
 
Fcjd 24

Classifications:



Summaries for Familial Creutzfeldt-Jakob Disease

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MalaCards based summary: Familial Creutzfeldt-Jakob Disease, also known as creutzfeldt-jakob disease, familial, is related to creutzfeldt-jakob disease and glucose transporter type 1 deficiency syndrome. An important gene associated with Familial Creutzfeldt-Jakob Disease is PRNP (Prion Protein). Affiliated tissues include brain and testes, and related mouse phenotype reproductive system.

Related Diseases for Familial Creutzfeldt-Jakob Disease

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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 & Phenotypes for Familial Creutzfeldt-Jakob Disease

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MGI Mouse Phenotypes related to Familial Creutzfeldt-Jakob Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.4APOE, MSMB, PRND, PRNP

Drugs & Therapeutics for Familial Creutzfeldt-Jakob Disease

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunoglobulins6045
2Antibodies6045

Interventional clinical trials:

idNameStatusNCT IDPhase
1Therapeutic Antibodies Against Prion Diseases From PRNP Mutation CarriersRecruitingNCT02837705
2Genetic Characterization of Movement Disorders and DementiasRecruitingNCT02014246
3Enhanced CJD Surveillance in the Older PopulationRecruitingNCT02629640

Search NIH Clinical Center for Familial Creutzfeldt-Jakob Disease

Genetic Tests for Familial Creutzfeldt-Jakob Disease

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Genetic tests related to Familial Creutzfeldt-Jakob Disease:

id Genetic test Affiliating Genes
1 Familial Creutzfeldt-Jakob Disease24 PRNP

Anatomical Context for Familial Creutzfeldt-Jakob Disease

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

36
Brain, Testes

Publications for Familial Creutzfeldt-Jakob Disease

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Articles related to Familial Creutzfeldt-Jakob Disease:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease. (26806765)
2016
2
Early pathology in sleep studies of patients with familial Creutzfeldt-Jakob disease. (27251902)
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
Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing. (27929804)
2016
6
Familial Creutzfeldt-Jakob Disease Cluster Among an African American Family. (27997483)
2016
7
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset. (27803826)
2016
8
Roles of methionine oxidation in E200K prion protein misfolding: Implications for the mechanism of pathogenesis in E200K linked familial Creutzfeldt-Jakob disease. (26779934)
2016
9
Characterization of sleep disorders in patients with E200K familial Creutzfeldt-Jakob disease. (25451855)
2015
10
Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD. (25522698)
2015
11
Early-onset spastic paraparesis as presenting sign of familial Creutzfeldt-Jakob disease. (26578040)
2015
12
Familial Creutzfeldt-Jakob disease with M232R mutation presented with corticobasal syndrome. (25515787)
2014
13
Biological network inferences for a protection mechanism against familial Creutzfeldt-Jakob disease with E200K pathogenic mutation. (25149502)
2014
14
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
15
Familial Creutzfeldt-Jakob disease with a mutation at codon 180 presenting with an atypical phenotype. (22999564)
2013
16
Spreading brain lesions in a familial Creutzfeldt-Jakob disease with V180I mutation over 4 years. (23176099)
2012
17
Early detection of familial Creutzfeldt-Jakob disease on diffusion-weighted imaging before symptom onset. (22640903)
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
The role of stress and anxiety in the onset of familial Creutzfeldt-Jakob Disease (CJD): review. (19051123)
2009
24
Familial Creutzfeldt-Jakob disease with E200K mutation presenting with neurosensorial hypoacusis. (21734919)
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
Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques. (16533975)
2006
33
A case of familial Creutzfeldt-Jakob disease presenting with dry cough. (16736740)
2006
34
Diffusion-weighted MRI in familial Creutzfeldt-Jakob disease with the codon 200 mutation in the prion protein gene. (15850581)
2005
35
Familial Creutzfeldt-Jakob disease initially presenting with alien hand syndrome. (12021958)
2002
36
A cluster of familial Creutzfeldt-Jakob disease mutations recapitulate conserved residues in Doppel: a case of molecular mimicry? (12459456)
2002
37
Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease. (11568919)
2001
38
Psychotic symptoms presented in familial Creutzfeldt-Jakob disease, subtype E200K. (11681772)
2001
39
Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene. (11733840)
2001
40
Diffusion-weighted MRI in two cases of familial Creutzfeldt--Jakob disease. (11239951)
2001
41
Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion. (10896268)
2000
42
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
43
Familial Creutzfeldt-Jakob disease: a neuropsychological case study. (14590560)
2000
44
Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia. (10787305)
2000
45
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. (10090891)
1999
46
Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene (10553985)
1999
47
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
48
Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene. (10970246)
1999
49
Identification of the prion protein allotypes which accumulate in the brain of sporadic and familial Creutzfeldt-Jakob disease patients. (9142120)
1997
50
Familial Creutzfeldt-Jakob disease. Codon 200 prion disease in Libyan Jews. (9279329)
1997

Variations for Familial Creutzfeldt-Jakob Disease

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Expression for genes affiliated with Familial Creutzfeldt-Jakob Disease

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

Pathways for genes affiliated with Familial Creutzfeldt-Jakob Disease

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GO Terms for genes affiliated with Familial Creutzfeldt-Jakob Disease

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

idNameGO IDScoreTop Affiliating Genes
1anchored component of membraneGO:00312259.5PRND, PRNP

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

idNameGO IDScoreTop Affiliating Genes
1cellular copper ion homeostasisGO:000687810.1PRND, PRNP
2protein homooligomerizationGO:005126010.0PRND, PRNP
3response to oxidative stressGO:00069799.5APOE, PRNP

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055079.5PRND, PRNP

Sources for Familial Creutzfeldt-Jakob Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet