MCID: FML118
MIFTS: 23

Familial Creutzfeldt-Jakob Disease malady

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

Aliases & Classifications for Familial Creutzfeldt-Jakob Disease

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Sources:
23GeneTests, 48Novoseek, 66UMLS
See all MalaCards sources

Aliases & Descriptions for Familial Creutzfeldt-Jakob Disease:

Name: Familial Creutzfeldt-Jakob Disease 23 48
Creutzfeldt-Jakob Disease, Familial 66
 
Fcjd 23

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 cerebellar ataxia. An important gene associated with Familial Creutzfeldt-Jakob Disease is PRNP (Prion Protein). Affiliated tissues include brain and testes.

Related Diseases for Familial Creutzfeldt-Jakob Disease

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Diseases in the Creutzfeldt-Jakob Disease family:

familial creutzfeldt-jakob disease

Diseases related to Familial Creutzfeldt-Jakob Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1creutzfeldt-jakob disease11.0
2cerebellar ataxia10.1
3kuru10.1
4cerebritis10.1
5sleep disorder10.1
6prion disease10.1
7spastic paraparesis10.1
8ataxia10.1
9encephalopathy10.1
10spasticity10.1
11corticobasal syndrome10.1
12alagille syndrome9.7PRND, PRNP
13prion disease with protracted course9.7PRND, PRNP
14breast epithelioid hemangioma9.6PRND, PRNP
15extrahepatic bile duct adenoma9.4PRND, PRNP
16familial mediterranean fever type 29.0LAMA3, PRND, PRNP

Graphical network of 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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Enhanced CJD Surveillance in the Older PopulationRecruitingNCT02629640
2Therapeutic Antibodies Against Prion Diseases From PRNP Mutation CarriersRecruitingNCT02837705

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 Disease23 PRNP

Anatomical Context for Familial Creutzfeldt-Jakob Disease

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

34
Brain, Testes

Animal Models for Familial Creutzfeldt-Jakob Disease or affiliated genes

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Publications for Familial Creutzfeldt-Jakob Disease

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Articles related to Familial Creutzfeldt-Jakob Disease:

(show top 50)    (show all 81)
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
Characterization of sleep disorders in patients with E200K familial Creutzfeldt-Jakob disease. (25451855)
2015
5
Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD. (25522698)
2015
6
Early-onset spastic paraparesis as presenting sign of familial Creutzfeldt-Jakob disease. (26578040)
2015
7
Familial Creutzfeldt-Jakob disease with M232R mutation presented with corticobasal syndrome. (25515787)
2014
8
Spreading brain lesions in a familial Creutzfeldt-Jakob disease with V180I mutation over 4 years. (23176099)
2012
9
Pruritus in familial Creutzfeldt-Jakob disease: a common symptom associated with central nervous system pathology. (20725737)
2011
10
Cerebral hypermetabolism demonstrated by FDG PET in familial Creutzfeldt-Jakob disease. (21716034)
2011
11
Familial Creutzfeldt-Jakob disease with V180I mutation. (20592908)
2010
12
Putaminal volume and diffusion in early familial Creutzfeldt-Jakob disease. (19828153)
2010
13
The role of stress and anxiety in the onset of familial Creutzfeldt-Jakob Disease (CJD): review. (19051123)
2009
14
Familial Creutzfeldt-Jakob disease with E200K mutation presenting with neurosensorial hypoacusis. (21734919)
2009
15
Familial Creutzfeldt-Jakob disease with a V180I mutation: comparative analysis with pathological findings and diffusion-weighted images. (20051687)
2009
16
Fluorine 18-labeled fluorodeoxyglucose positron emission tomography in familial Creutzfeldt-Jakob disease. (18852360)
2008
17
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
18
Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques. (16533975)
2006
19
Diffusion-weighted MRI in familial Creutzfeldt-Jakob disease with the codon 200 mutation in the prion protein gene. (15850581)
2005
20
Familial Creutzfeldt-Jakob disease initially presenting with alien hand syndrome. (12021958)
2002
21
Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease. (11568919)
2001
22
Psychotic symptoms presented in familial Creutzfeldt-Jakob disease, subtype E200K. (11681772)
2001
23
Familial Creutzfeldt-Jakob disease associated with a point mutation at codon 210 of the prion protein gene. (11733840)
2001
24
Diffusion-weighted MRI in two cases of familial Creutzfeldt--Jakob disease. (11239951)
2001
25
Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion. (10896268)
2000
26
Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. (10090891)
1999
27
Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene (10553985)
1999
28
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
29
Identification of the prion protein allotypes which accumulate in the brain of sporadic and familial Creutzfeldt-Jakob disease patients. (9142120)
1997
30
Familial Creutzfeldt-Jakob disease. Codon 200 prion disease in Libyan Jews. (9279329)
1997
31
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. (8909447)
1996
32
Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation. (8618678)
1996
33
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: clinical, pathological and molecular features. (7767490)
1995
34
Familial Creutzfeldt-Jakob disease. (8030961)
1994
35
Familial Creutzfeldt-Jakob disease: three autopsy cases of the panencephalopathic type. (7955663)
1994
36
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: different prion proteins determined by a DNA polymorphism. (7908444)
1994
37
Research on familial Creutzfeldt-Jakob disease (FCJD) resulting in presymptomatic testing: implications for the Human Genome Project. (11659811)
1993
38
Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20. (1469441)
1992
39
Transmission of spongiform encephalopathy from a familial Creutzfeldt-Jakob disease patient of Jewish Libyan origin carrying the PRNP codon 200 mutation. (1351274)
1992
40
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. (1439789)
1992
41
A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease. (1357594)
1992
42
The phenotypic expression of different mutations in transmissible familial Creutzfeldt-Jakob disease. (1684754)
1991
43
The molecular genetics of familial Creutzfeldt-Jakob disease in France. (1757800)
1991
44
Familial Creutzfeldt-Jakob disease in Finland: epidemiological, clinical, pathological and molecular genetic studies. (1684756)
1991
45
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. (1683708)
1991
46
Familial Creutzfeldt-Jakob disease with temporal and spatial separation of affected members. (2253724)
1990
47
Familial Creutzfeldt-Jakob disease without periodic EEG activity. (2252372)
1990
48
An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease. (2159587)
1990
49
Familial Creutzfeldt-Jakob disease in Japan. Three cases in a family with white matter involvement. (3884745)
1985
50
Familial Creutzfeldt-Jakob disease in Chile. (6343559)
1983

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:00312259.3PRND, PRNP

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

idNameGO IDScoreTop Affiliating Genes
1cellular copper ion homeostasisGO:00068789.7PRND, PRNP
2protein homooligomerizationGO:00512609.3PRND, PRNP

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055079.3PRND, PRNP

Sources for Familial Creutzfeldt-Jakob Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet