MCID: CRT072
MIFTS: 63

Creutzfeldt-Jakob Disease malady

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

Aliases & Classifications for Creutzfeldt-Jakob Disease

About this section
Sources:
2CDC, 11Disease Ontology, 12diseasecard, 13DISEASES, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 37MedlinePlus, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Creutzfeldt-Jakob Disease:

Name: Creutzfeldt-Jakob Disease 51 11 47 48 69 12 49 37 13 67
Variant Creutzfeldt-Jakob Disease 11 47 26 2 13
Cjd 11 47 69
Encephalopathy, Bovine Spongiform 38 67
Bovine Spongiform Encephalopathy 11 2
Creutzfeldt-Jacob Disease 11 47
Creutzfeldt Jakob Disease 11 47
Vcjd 47 2
New Variant Creutzfeldt-Jakob Disease 67
Creutzfeldt-Jakob Disease, Sporadic 67
Inherited Creutzfeldt-Jakob Disease 53
Creutzfeldt-Jakob Disease, Variant 51
Acquired Creutzfeldt-Jakob Disease 53
Subacute Spongiform Encephalopathy 11
 
Sporadic Creutzfeldt-Jakob Disease 53
Variant Creutzfeldt-Jacob Disease 47
Encephalopathy Bovine Spongiform 49
Transmissible Virus Dementia 11
Creutzfeldt Jacob Syndrome 11
Creutzfeldt-Jakob Syndrome 38
Jakob-Creutzfeldt Disease 11
Creutzfeldt Jacob Disease 47
New Variant of Cjd 47
Inherited Cjd 53
Sporadic Cjd 53
Acquired Cjd 67
Variant Cjd 47
Nv-Cjd 47

Characteristics:

Orphanet epidemiological data:

53
sporadic creutzfeldt-jakob disease:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Canada),1-9/1000000 (United States); Age of onset: Adult,Elderly; Age of death: adult,elderly
inherited creutzfeldt-jakob disease:
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: adult,elderly
acquired creutzfeldt-jakob disease:
Inheritance: Not applicable; Age of onset: Adult,Elderly; Age of death: adult,elderly

HPO:

63
creutzfeldt-jakob disease:
Inheritance: autosomal dominant inheritance
Onset and clinical course: rapidly progressive

Classifications:



External Ids:

OMIM51 123400
Disease Ontology11 DOID:11949, DOID:5435
ICD1029 A81.0, A81.00
ICD9CM31 046.1
NCIt44 C26802
MESH via Orphanet39 D007562
UMLS via Orphanet68 C0022336
ICD10 via Orphanet30 A81.0

Summaries for Creutzfeldt-Jakob Disease

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NIH Rare Diseases:47 Creutzfeldt-Jakob disease (CJD) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. In the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. As CJD progresses, mental deterioration becomes severe, and they can have uncontrolled movements, blindness, weakness, and go into a coma. This condition often leads to death within a few weeks or months after symptoms begin. About 90 percent of patients do not survive for more than one year. In the United States, about 300 people are diagnosed with this condition each year. It occurs in approximately one in every one million people worldwide. CJD can be very difficult to diagnose because it is similar to other forms of dementia. The only way to confirm the diagnosis is to test a small sample of brain tissue, which can be done by brain biopsy or autopsy. CJD is caused by the build up of abnormal prion proteins in the brain. For most patients, the reason for the abnormal prions is unknown (sporadic CJD). About 5 to 10 percent of cases are due to an inherited genetic mutation associated with CJD (familial CJD). This condition can also be acquired through contact with infected brain tissue (iatrogenic CJD) or consuming infected beef (variant CJD). There is no specific treatment for CJD, so the goal is to make a person as comfortable as possible. Last updated: 7/8/2015

MalaCards based summary: Creutzfeldt-Jakob Disease, also known as variant creutzfeldt-jakob disease, is related to akinetic mutism and familial creutzfeldt-jakob disease, and has symptoms including visual impairment, supranuclear gaze palsy and depression. An important gene associated with Creutzfeldt-Jakob Disease is PRNP (Prion Protein), and among its related pathways are Integrated Pancreatic Cancer Pathway and Neuroscience. Affiliated tissues include brain, testes and cerebellum, and related mouse phenotypes are taste/olfaction and reproductive system.

UniProtKB/Swiss-Prot:69 Creutzfeldt-Jakob disease: Occurs primarily as a sporadic disorder (1 per million), while 10-15% are familial. Accidental transmission of CJD to humans appears to be iatrogenic (contaminated human growth hormone (HGH), corneal transplantation, electroencephalographic electrode implantation, etc.). Epidemiologic studies have failed to implicate the ingestion of infected animal meat in the pathogenesis of CJD in human. The triad of microscopic features that characterize the prion diseases consists of (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the degree of nerve cell loss, and (3) amyloid plaque formation. CJD is characterized by progressive dementia and myoclonic seizures, affecting adults in mid- life. Some patients present sleep disorders, abnormalities of high cortical function, cerebellar and corticospinal disturbances. The disease ends in death after a 3-12 months illness.

MedlinePlus:37 Creutzfeldt-jakob disease (cjd) is a rare, degenerative brain disorder. symptoms usually start around age 60. memory problems, behavior changes, vision problems, and poor muscle coordination progress quickly to dementia, coma, and death. most patients die within a year. the three main categories of cjd are sporadic cjd, which occurs for no known reason hereditary cjd, which runs in families acquired cjd, which occurs from contact with infected tissue, usually during a medical procedure cattle can get a disease related to cjd called bovine spongiform encephalopathy (bse) or "mad cow disease." there is concern that people can get a variant of cjd from eating beef from an infected animal, but there is no direct proof to support this. nih: national institute of neurological disorders and stroke

CDC:2 BSE (bovine spongiform encephalopathy) is a progressive neurological disorder of cattle that results from infection by an unusual transmissible agent called a prion. The nature of the transmissible agent is not well understood. Currently, the most accepted theory is that the agent is a modified form of a normal protein known as prion protein. For reasons that are not yet understood, the normal prion protein changes into a pathogenic (harmful) form that then damages the central nervous system of cattle.

NINDS:48 Creutzfeldt-Jakob disease (CJD) is a rare, degenerative,fatal brain disorder. Typically, onset of symptoms occurs at about age 60. There are three major categories of CJD:

OMIM:51 The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and... (123400) more...

Related Diseases for Creutzfeldt-Jakob Disease

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Diseases in the Creutzfeldt-Jakob Disease family:

Familial Creutzfeldt-Jakob Disease

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

(show top 50)    (show all 142)
idRelated DiseaseScoreTop Affiliating Genes
1akinetic mutism30.5ENO2, SYP
2familial creutzfeldt-jakob disease12.5
3prion disease11.7
4insomnia, fatal familial11.2
5gerstmann-straussler disease11.2
6encephalopathy10.8
7familial mediterranean fever type 210.8PRND, PRNP
8lyme disease - neurological complications10.7ENO2, S100B
9exstrophy-epispadias complex10.7ENO2, S100B
102q33.1 microdeletion syndrome10.7ENO2, SYP
11postinfectious vasculitis10.7APOE, MAPT
12paranasal sinus cancer10.7ENO2, SYP
13esophagus small cell carcinoma10.7ENO2, SYP
14hing torack dowston syndrome10.7ENO2, SYP
15penis verrucous carcinoma10.7ENO2, S100B
16skin glomus tumor10.7ENO2, SYP
17gallbladder signet ring cell adenocarcinoma10.6ENO2, SYP
18testicular seminoma10.6APOE, MAPT
19anaplastic oligoastrocytoma10.6S100B, SYP
20punctate porokeratosis10.6ENO2, SYP
21pearson syndrome10.6ENO2, SYP
22hypersensitivity reaction type ii disease10.6ENO2, SYP
23fraxf syndrome10.6S100B, SYP
24mixed endometrial stromal and smooth muscle tumor10.6ENO2, SYP
25pilocytic astrocytoma10.6ENO2, SYP
26vulva fibroepithelial polyp10.6ENO2, SYP
27lumbar plexus neoplasm10.6S100B, SYP
28hypogonadism cardiomyopathy10.6S100B, SYP
29choroid plexus cancer10.6PRNP, SPRN
30subpulmonary stenosis10.6ENO2, SYP
31neuronitis10.6
32inflammatory mfh10.6S100B, SYP
33hemiplegia alterans10.6APOE, S100B
34polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.5APOE, CST3, PRNP
35nosophobia10.5APOE, MAPT, PRNP
36prostate small cell carcinoma10.5ENO2, SYP
37intracystic papillary adenoma10.5S100B, SYP
38suppurative thyroiditis10.5MAPT, SYP
39space motion sickness10.5S100B, SYP
40l-cell glucagon-like peptide producing tumor10.5ENO2, S100B, SYP
41adenomyoma of uterine corpus10.5ENO2, S100B, SYP
42protoplasmic astrocytoma10.5ENO2, S100B, SYP
43anus leiomyosarcoma10.5ENO2, S100B, SYP
44megarbane jalkh syndrome10.5ENO2, S100B, SYP
45syringomyelia10.5ENO2, SYP
46kuru10.5
47angiomyolipoma10.5APOE, MAPT, PRNP
48spinal cord oligodendroglioma10.5ENO2, S100B, SYP
49alpha chain disease10.5ENO2, SYP
50gallbladder adenoma10.5S100B, SYP

Comorbidity relations with Creutzfeldt-Jakob Disease via Phenotypic Disease Network (PDN):


Acute Cystitis

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



Diseases related to creutzfeldt-jakob disease

Symptoms for Creutzfeldt-Jakob Disease

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Symptoms by clinical synopsis from OMIM:

123400

Clinical features from OMIM:

123400

Human phenotypes related to Creutzfeldt-Jakob Disease:

 63 (show all 19)
id Description HPO Frequency HPO Source Accession
1 visual impairment63 HP:0000505
2 supranuclear gaze palsy63 HP:0000605
3 depression63 HP:0000716
4 dementia63 HP:0000726
5 irritability63 HP:0000737
6 hallucinations63 HP:0000738
7 anxiety63 HP:0000739
8 apathy63 HP:0000741
9 delusions63 HP:0000746
10 personality changes63 HP:0000751
11 hemiparesis63 HP:0001269
12 confusion63 HP:0001289
13 myoclonus63 HP:0001336
14 gait ataxia63 HP:0002066
15 memory impairment63 HP:0002354
16 aphasia63 HP:0002381
17 increased csf protein63 HP:0002922
18 loss of facial expression63 HP:0005327
19 extrapyramidal muscular rigidity63 HP:0007076

UMLS symptoms related to Creutzfeldt-Jakob Disease:


back pain, headache, hemiparesis, myoclonus, pain, sciatica, seizures, syncope, tremor, apathy, chronic pain, personality change, vertigo/dizziness, memory loss, gait ataxia, sleeplessness

Drugs & Therapeutics for Creutzfeldt-Jakob Disease

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

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Formaldehydeapproved, vet_approvedPhase 48450-00-0712
Synonyms:
Aldeide formica
Fannoform
Formaldehyde
Formalin
Formalina
Formaline
Formalith
Formic aldehyde
Formol
 
Methaldehyde
Methanal
Methyl aldehyde
Methylene glycol
Methylene oxide
Oxomethane
Oxomethylene
Oxymethylene
Paraform
Paraformaldehyde
2
Epinephrineapproved, vet_approvedPhase 493351-43-45816
Synonyms:
(-)-(R)-Epinephrine
(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol
(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-dihydroxy-a-[(methylamino)methyl]-Benzyl alcohol
(-)-3,4-dihydroxy-alpha-[(methylamino)methyl]-Benzyl alcohol
(-)-Adrenalin
(-)-Adrenaline
(-)-Epinephrine
(-)-R-Epinephrine
(R)-(-)-Adnephrine
(R)-(-)-Adrenaline
(R)-(-)-Epinephrine
(R)-(-)-Epirenamine
(R)-(−)-adrenaline
(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
(R)-4-[1-hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
(R)-Adrenaline
(R)-Epinephrine
(−)-adrenaline
02252_FLUKA
1-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
1-Adrenalin
1-Epinephrine
4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol
4-(1-hydroxy-2-methylamino-ethyl)benzene-1,2-diol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol
51-43-4
51-43-4 (FREE BASE)
51028-73-0
A0173
AC-13188
AC1L1L7B
ADR ADRENALINE
ADROP
AI3-19015
Adnephrine
Adrenal
Adrenalin
Adrenalin (TN)
Adrenalin in Oil
Adrenalin-Medihaler
Adrenalina
Adrenalina [DCIT]
Adrenaline
Adrenaline (JP15)
Adrenaline/Epinephrine
Adrenalinum
Adrenamine
Adrenan
Adrenapax
Adrenasol
Adrenatrate
Adrenine
Adrenodis
Adrenohorma
Adrenosan
Adrenutol
Adrin
Adrine
Ana-Guard
Ana-Kit
Antiasthmatique
Asmatane Mist
Asthma meter mist
Asthma-nefrin
Asthmahaler Mist
Asthmanefrin
Astmahalin
Astminhal
BIDD:GT0119
Balmadren
Bernarenin
Biorenine
Bosmin
Brevirenin
Bronkaid
Bronkaid Mist
Bronkaid Suspension Mist
Bupivacaine Hcl and Epinephrine
C00788
CCRIS 4812
CHEBI:28918
CHEMBL679
CID5816
Chelafrin
Citanest Forte
Corisol
D-Epifrin
D-Epinephrine
D00095
DB00668
Drenamist
Dylephrin
Dyspne-Inhal
E4250_SIGMA
EINECS 200-098-7
EPI E Z PEN JR
EPIPEN E Z PEN
EPIPEN JR
Epi EZ Pen Jr
Epifrin
Epiglaufrin
Epinefrin
Epinefrin [Czech]
Epinefrina
Epinefrina [INN-Spanish]
Epinephran
Epinephrin
Epinephrine
Epinephrine (USP)
Epinephrine (USP/INN)
Epinephrine [USAN:INN:JAN]
Epinephrine hydrochloride
Epinephrinum
Epinephrinum [INN-Latin]
Epipen
Epipen (TN)
Epipen Auto-Injector
Epipen EZ Pen
Epipen Jr.
Epipen Jr. Auto-Injector
Epirenamine
Epirenan
Epirenin
Epitrate
Eppy
Esphygmogenina
Exadrin
 
Glaucon
Glaucosan
Glauposine
Glycirenan
HSCI1_000215
HSDB 4289
Haemostasin
Haemostatin
Hektalin
Hemisine
Hemostasin
Hemostatin
Hypernephrin
Hyporenin
IOP
Intranefrin
Iontocaine
Isoptoepinal
Kidoline
L-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
L-Adrenaline
L-Adrenaline Base
L-Epinehphrine
L-Epinephrine
L-Epirenamine
L-Methylaminoethanolcatechol
L-epinephrine
LS-156
Levo-Methylaminoethanolcatechol
Levoadrenaline
Levoepinephrine
Levorenen
Levorenin
Levorenine
Levoreninum
Lopac-E-4642
Lyodrin
Lyophrin
Medihaler-Epi
Metanephrin
Methylaminoethanolcatechol
Methylarterenol
Micronefrin
Micronephrine
MolPort-002-051-368
Mucidrina
Myosthenine
Mytrate
NCGC00015417-01
NCGC00142615-01
NCGC00142615-03
NCGC00142615-04
NCGC00142615-05
NCGC00142615-06
NCGC00142615-07
NSC 62786
NSC62786
Nephridine
Nieraline
PDSP1_001120
PDSP2_001104
Paranephrin
Primatene
Primatene Mist
R-(-)-Epinephrine
R-Adrenaline
RCRA waste no. P042
Racemic Epinephrine
Racepinephrine
Rcra waste number P042
Renagladin
Renaglandin
Renaglandulin
Renaleptine
Renalina
Renoform
Renostypricin
Renostypticin
Renostyptin
SMP1_000227
ST069368
SUS-PHRINE SULFITE-FREE
Scurenaline
Septocaine
Simplene
Sindrenina
Soladren
Sphygmogenin
Stryptirenal
Styptirenal
Supracapsulin
Supradin
Supranefran
Supranephrane
Supranephrine
Supranol
Suprarenaline
Suprarenin
Suprel
Surenine
Surrenine
Sus-Phrine
Sus-phrine
Susphrine
Sympathin I
Takamina
Takamine
Tokamina
Tonogen
Twinject
Twinject 0.15
Twinject 0.3
Twinject 0.30
UNII-YKH834O4BH
Vaponefrin
Vasoconstrictine
Vasoconstrictor
Vasodrine
Vasoton
Vasotonin
adrenaline
bmse000316
d-Adrenaline
epinephrine
l-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
l-Adrenalin
l-Adrenaline
l-Epinephine
l-Epinephrine (synthetic)
l-Epirenamine
l-Methylaminoethanolcatechol
levoepinephrine
nchembio747-comp9
3Vasoconstrictor AgentsPhase 42027
4RacepinephrinePhase 4933
5Epinephryl boratePhase 4933
6Pharmaceutical SolutionsPhase 47793
7
Coal tarapprovedPhase 21918007-45-2
Synonyms:
 
Coal tars
Tar, coal
8
QuinacrineapprovedPhase 2683-89-6237
Synonyms:
130-42-7
130-42-7 (mono-hydrochloride)
2-Methoxy-6-chloro-9-diethylaminopentylaminoacridine
3-Chloro-7-methoxy-9-(1-methyl-4-diethylaminobutylamino)acridine
3-chloro-7-Methoxy-9-(1-methyl-4-diethylaminobutylamino)acridine
316-05-2 (dimesylate)
4-N-(6-chloro-2-methoxyacridin-9-yl)-1-N,1-N-diethylpentane-1,4-diamine
6-Chloro-9-((4-(diethylamino)-1-methylbutyl)amino)-2-methoxyacridine
6-chloro-9-((4-(Diethylamino)-1-methylbutyl)amino)-2-methoxyacridine
6151-30-0
6151-30-0 (di-hydrochloride, di-hydrate)
69-05-6
69-05-6 (di-hydrochloride)
78901-94-7
78901-94-7 (monoacetate)
83-89-6
83-89-6 (Parent)
866 R.P.
AB00053540
AC1L18SD
AC1L3ZIX
AC1MBFYF
AC1NS008
AC1Q2BPT
AI3-04467
AKOS000541535
AKOS004910405
Acirchine
Acrinamine
Acriquine
Akrichin
Antimalarina
Arichin
Atabrine dihydrochloride
Atabrine hydrochloride
Atabrine hydrochloride dihydrate
Atebrine
BAS 00439963
BPBio1_000348
BRD-A45889380-336-03-4
BSPBio_000316
BSPBio_002112
C07339
C23H30ClN3O.2HCl.2H2O
CCRIS 8633
CHEBI:8711
CHEMBL546257
CHEMBL7568
CID149640
CID237
CID2725002
CID5351141
CPD000449289
D08179
DB01103
DivK1c_000101
EINECS 201-508-7
EINECS 204-989-1
Erion
Erion Hydrochloride
GNF-PF-5448
HMS1568P18
HMS2090L03
HSDB 3253
Haffkinine
IDI1_000101
Italchin
Italchine
KBio1_000101
KBio2_001409
KBio2_002507
KBio2_003977
KBio2_005075
KBio2_006545
KBio2_007643
KBio3_001612
KBio3_002985
KBioGR_001011
KBioGR_002507
 
KBioSS_001409
KBioSS_002515
LS-14293
LS-14294
LS-190025
Lopac0_000970
MLS000758289
MS-1557
Malaricida
Mecryl
Mepacrina
Mepacrina [INN-Spanish]
Mepacrine
Mepacrine (INN)
Mepacrine HCl
Mepacrine [INN:BAN]
Mepacrine hydrochloride dihydrate
Mepacrinum
Mepacrinum [INN-Latin]
Methoquine
Metochin
MolPort-001-739-072
MolPort-004-285-521
N'-(6-chloro-2-methoxyacridin-9-yl)-N,N-diethylpentane-1,4-diamine
N(4)-(6-chloro-2-Methoxy-9-acridinyl)-N(1),N(1)-diethyl-1,4-pentanediamine
N(4)-(6-chloro-2-methoxy-9-acridinyl)-N(1),N(1)-diethyl-1,4-pentanediamine
N*4*-(6-Chloro-2-methoxy-acridin-9-yl)-N*1*,N*1*-diethyl-pentane-1,4-diamine
N4-(6-Chloro-2-methoxy-9-acridinyl)-N1,N1-diethyl-1,4-pentanediamine
N4-(6-Chloro-2-methoxy-9-acridinyl)-N1,N1-diethyl-1,4-pentanediamine monoacetate
NCGC00015874-04
NCGC00162300-01
NCGC00180899-01
NCGC00180969-01
NCI60_000926
NINDS_000101
NSC14229
N~4~-(6-chloro-2-methoxyacridin-9-yl)-N~1~,N~1~-diethylpentane-1,4-diamine
N~4~-[6-chloro-2-(methyloxy)acridin-9-yl]-N~1~,N~1~-diethylpentane-1,4-diamine
Palacrin
Palusan
Pentilen
Prestwick0_000318
Prestwick1_000318
Prestwick2_000318
Prestwick3_000318
Prestwick_650
Quinacrin
Quinacrine
Quinacrine Dihydrochloride
Quinacrine Dihydrochloride, Dihydrate
Quinacrine acetate
Quinacrine dihydrochloride dihydrate
Quinacrine dihydrochloride mustard
Quinacrine hydrochloride dihydrate
Quinactine
RP 866
RP-866 (Dihydrochloride dihydrate)
SAM001247040
SMR000449289
SN-390 (Dihydrochloride dihydrate)
SPBio_000676
SPBio_002535
STL061087
Spectrum2_000888
Spectrum3_000606
Spectrum4_000496
Spectrum5_001405
Spectrum_000929
St 439
TCMDC-125480
WLN: T C666 BNJ EG IMY1&3N2&2 LO1 &GH 2
acetic acid
acrichine
atabrine
atebrin
cMAP_000067
chinacrin
mepacrine
nchembio.215-comp6
nchembio873-comp30
quinacrine
9Antiprotozoal AgentsPhase 21986
10AntimalarialsPhase 21216
11Antiparasitic AgentsPhase 22127
12AnthelminticsPhase 2431
13Anti-Infective AgentsPhase 221402
14Immunoglobulins6045
15Antibodies6045
16Thrombin288
17Hemostatics1359
18Coagulants1428

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Fibrinogen as an Alternative to FFP in Aortic Surgery.Unknown statusNCT00994045Phase 4
2SOLFAMU Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human EncephalopathiesRecruitingNCT02951559Phase 4
3CJD (Creutzfeldt-Jakob Disease) Quinacrine StudyCompletedNCT00183092Phase 2
4A Trial to Investigate the Relative Efficacy, Safety, and Tolerability of Octaplas LG Versus Octaplas SDCompletedNCT01063595Phase 1
5Notification of Donors With Positive Microbiology MarkersUnknown statusNCT01050881
6The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH)CompletedNCT00721864
7PRION-1: Quinacrine for Human Prion DiseaseCompletedNCT00104663
8Enhanced CJD Surveillance in the Older PopulationRecruitingNCT02629640
9Therapeutic Antibodies Against Prion Diseases From PRNP Mutation CarriersRecruitingNCT02837705
10Genetic Characterization of Movement Disorders and DementiasRecruitingNCT02014246
11The Role of the Coagulation Pathway at the Synapse in Prion DiseasesNot yet recruitingNCT02480725

Search NIH Clinical Center for Creutzfeldt-Jakob Disease


Cochrane evidence based reviews: encephalopathy, bovine spongiform

Genetic Tests for Creutzfeldt-Jakob Disease

About this section

Genetic tests related to Creutzfeldt-Jakob Disease:

id Genetic test Affiliating Genes
1 Jakob-Creutzfeldt Disease26

Anatomical Context for Creutzfeldt-Jakob Disease

About this section

MalaCards organs/tissues related to Creutzfeldt-Jakob Disease:

35
Brain, Testes, Cerebellum, Tonsil, Cortex, Spleen, Appendix

Animal Models for Creutzfeldt-Jakob Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Creutzfeldt-Jakob Disease:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.5APOE, ENO2, MAPT, SNAP25
2MP:00053899.2APOE, CST3, HLA-DQB1, MSMB, PRND, PRNP
3MP:00028738.8HLA-DQB1, MAPT, PRNP, PVALB, RARB, S100B
4MP:00053698.7APOE, CRYAB, CST3, HLA-DQB1, MAPT, PRNP
5MP:00036317.9APOE, CST3, ENO2, HLA-DQB1, MAPT, PRND
6MP:00053867.6APOE, CRYAB, ENO2, HLA-DQB1, MAPT, PRND

Publications for Creutzfeldt-Jakob Disease

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Articles related to Creutzfeldt-Jakob Disease:

(show top 50)    (show all 941)
idTitleAuthorsYear
1
Diagnostic Accuracy of a Combined Analysis of Cerebrospinal Fluid t-PrP, t-tau, p-tau, and AI^42 in the Differential Diagnosis of Creutzfeldt-Jakob Disease from Alzheimer's Disease with Emphasis on Atypical Disease Variants. (27886009)
2017
2
Cerebrospinal Fluid Biomarker-Based Diagnosis of Sporadic Creutzfeldt-Jakob Disease: A Validation Study for Previously Established Cutoffs. (28056460)
2017
3
Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients. (27612591)
2016
4
Proteome Analysis of Potential Synaptic Vesicle Cycle Biomarkers in the Cerebrospinal Fluid of Patients with Sporadic Creutzfeldt-Jakob Disease. (27562179)
2016
5
Creutzfeldt-Jakob disease. (28028861)
2016
6
Genetic Creutzfeldt-Jakob disease mimicking chronic inflammatory demyelinating polyneuropathy. (26568971)
2015
7
Autoimmune encephalitis mimicking Creutzfeldt-Jakob disease. (25566419)
2014
8
Creutzfeldt-Jakob disease mimicking autoimmune encephalitis with CASPR2 antibodies. (25434587)
2014
9
Agraphia of Kanji (Chinese characters): an early symptom of sporadic Creutzfeldt-Jakob disease in a Japanese patient: a case report. (25098795)
2014
10
Postmortem findings in a case of variant Creutzfeldt-Jakob disease treated with intraventricular pentosan polysulfate. (24554103)
2014
11
Human prion diseases: from kuru to variant creutzfeldt-jakob disease. (23225013)
2012
12
The first report of RPSA polymorphisms, also called 37/67 kDa LRP/LR gene, in sporadic Creutzfeldt-Jakob disease (CJD). (21838916)
2011
13
Diagnosing variant Creutzfeldt-Jakob disease: a retrospective analysis of the first 150 cases in the UK. (21172857)
2011
14
The role of stress and anxiety in the onset of familial Creutzfeldt-Jakob Disease (CJD): review. (19051123)
2009
15
Striatal [123I] FP-CIT SPECT demonstrates dopaminergic deficit in a sporadic case of Creutzfeldt-Jakob disease. (18638039)
2009
16
Herpes simplex encephalitis as an initial presentation of Creutzfeldt-Jakob disease. (18605370)
2008
17
Regulatory sequences of the PRNP gene influence susceptibility to sporadic Creutzfeldt-Jakob disease. (17134829)
2007
18
A new human genotype prone to variant Creutzfeldt-Jakob disease. (16709965)
2006
19
Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study. (17047093)
2006
20
Involvement of the peripheral nervous system in human prion diseases including dural graft associated Creutzfeldt-Jakob disease. (15716520)
2005
21
Polymorphism at 3' UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt-Jakob disease. (15986038)
2005
22
Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers' syndrome? An analysis of a national surveillance study. (15146014)
2004
23
Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease. (15521976)
2004
24
Practical aspects of decontamination of the unconventional transmissible agents that cause sporadic and variant Creutzfeldt-Jakob disease and other similar human diseases. (15448715)
2004
25
Creutzfeldt-Jakob disease presenting as progressive supranuclear palsy. (15142229)
2004
26
A potential cerebrospinal fluid and plasmatic marker for the diagnosis of Creutzfeldt-Jakob disease. (12923775)
2003
27
Chorea as a presenting feature of variant Creutzfeldt-Jakob disease. (12815669)
2003
28
Variant Creutzfeldt-Jakob disease. (14535362)
2003
29
Predicting incidence of variant Creutzfeldt-Jakob disease from UK dietary exposure to bovine spongiform encephalopathy for the 1940 to 1969 and post-1969 birth cohorts. (14559750)
2003
30
Ultrastructural changes in the optic nerves of rodents with experimental Creutzfeldt-Jakob Disease (CJD), Gerstmann-StrAoussler-Scheinker disease (GSS) or scrapie. (12921728)
2003
31
BSE and variant Creutzfeldt-Jakob disease: never say never. (12012095)
2002
32
Variant Creutzfeldt-Jakob disease: an unfolding epidemic of misfolded proteins. (12410862)
2002
33
Tonsillectomy and variant Creutzfeldt-Jakob disease. (11902091)
2002
34
New variant Creutzfeldt-Jakob disease--is our practice safe? (11412169)
2001
35
Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease. (11840201)
2001
36
The relationship between new variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. (10394138)
1999
37
Prion protein glycotype analysis in familial and sporadic Creutzfeldt-Jakob disease patients. (10483920)
1999
38
New variant Creutzfeldt-Jakob disease is more common in Britain than elsewhere. (9685298)
1998
39
New variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. (9494833)
1998
40
Cerebrospinal fluid neuron-specific enolase as a useful indicator for the early diagnosis of Creutzfeldt-Jakob disease]. (9396368)
1997
41
Apolipoprotein E phenotype frequency and cerebrospinal fluid concentration are not associated with Creutzfeldt-Jakob disease. (8970451)
1996
42
Demyelinating peripheral neuropathy with Creutzfeldt-Jakob disease and mutation at codon 200 of the prion protein gene. (8780103)
1996
43
Molecular genetic studies of Creutzfeldt-Jakob disease. (7999318)
1994
44
Similar genetic susceptibility in iatrogenic and sporadic Creutzfeldt-Jakob disease. (8113733)
1994
45
Functional integrity of benzodiazepine receptors of the geniculo-striate visual pathways in Creutzfeldt-Jakob disease. A pharmacological evoked potential study. (8380846)
1993
46
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. (7902693)
1993
47
Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20. (1469441)
1992
48
Analysis of the PrP gene in a Tunisian family with Creutzfeldt-Jakob disease]. (1780610)
1991
49
Ubiquitin immunoreactivity in kuru plaques in Creutzfeldt-Jakob disease. (2171419)
1990
50
Creutzfeldt-Jakob disease: a case with extensive white matter degeneration and optic atrophy. (6191005)
1983

Variations for Creutzfeldt-Jakob Disease

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UniProtKB/Swiss-Prot genetic disease variations for Creutzfeldt-Jakob Disease:

69
id Symbol AA change Variation ID SNP ID
1PRNPp.Asp178AsnVAR_006469rs74315403
2PRNPp.Val180IleVAR_006470rs74315408
3PRNPp.Glu200LysVAR_006473rs28933385
4PRNPp.Arg208HisVAR_006474rs74315412
5PRNPp.Val210IleVAR_006475rs74315407
6PRNPp.Met232ArgVAR_006478rs74315409
7PRNPp.Glu196LysVAR_008749
8PRNPp.Glu211GlnVAR_008752rs398122370

Clinvar genetic disease variations for Creutzfeldt-Jakob Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PRNPNM_000311.3(PRNP)NT expansionPathogenicrs193922906GRCh37Chr 20, 4680026: 4680049
2PRNPNM_000311.3(PRNP): c.598G> A (p.Glu200Lys)SNVPathogenicrs28933385GRCh37Chr 20, 4680464: 4680464
3PRNPNM_000311.3(PRNP): c.628G> A (p.Val210Ile)SNVPathogenicrs74315407GRCh37Chr 20, 4680494: 4680494
4PRNPNM_000311.3(PRNP): c.538G> A (p.Val180Ile)SNVPathogenicrs74315408GRCh37Chr 20, 4680404: 4680404
5PRNPNM_000311.3(PRNP): c.695T> G (p.Met232Arg)SNVPathogenicrs74315409GRCh37Chr 20, 4680561: 4680561
6PRNPNM_000311.3(PRNP): c.623G> A (p.Arg208His)SNVPathogenicrs74315412GRCh37Chr 20, 4680489: 4680489
7PRNPNM_000311.3(PRNP): c.532G> A (p.Asp178Asn)SNVPathogenicrs74315403GRCh37Chr 20, 4680398: 4680398
8PRNPNM_000311.3(PRNP): c.631G> C (p.Glu211Gln)SNVPathogenicrs398122370GRCh37Chr 20, 4680497: 4680497

Expression for genes affiliated with Creutzfeldt-Jakob Disease

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

Pathways for genes affiliated with Creutzfeldt-Jakob Disease

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Pathways related to Creutzfeldt-Jakob Disease according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3CST3, EIF2AK2, MAPT, RARB
28.5APOE, CST3, ENO2, MAPT, PRNP, S100B

GO Terms for genes affiliated with Creutzfeldt-Jakob Disease

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

idNameGO IDScoreTop Affiliating Genes
1contractile fiberGO:004329210.5CRYAB, CST3
2anchored component of membraneGO:003122510.3PRND, PRNP, SPRN
3vesicleGO:00319829.4CST3, SNAP25, SPRN, STMN2
4neuronal cell bodyGO:00430258.1APOE, CST3, ENO2, PVALB, RPSA, S100B
5axonGO:00304247.9CRYAB, CST3, MAPT, PVALB, STMN2
6membraneGO:00160207.3APOE, EIF2AK2, HLA-DQB1, PRNP, RPSA, SNAP25
7cytoplasmGO:00057375.5APOE, CRYAB, CST3, EIF2AK2, ENO2, MAPT

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

idNameGO IDScoreTop Affiliating Genes
1cellular copper ion homeostasisGO:000687810.2PRND, PRNP
2negative regulation of intracellular transportGO:00323879.6CRYAB, MAPT
3regulation of neuronal synaptic plasticityGO:00481689.6APOE, S100B, SYP

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

idNameGO IDScoreTop Affiliating Genes
1tau protein bindingGO:004815610.6APOE, S100B
2lipoprotein particle bindingGO:007181310.5APOE, MAPT
3calcium-dependent protein bindingGO:00483069.4S100B, SNAP25, STMN2
4tubulin bindingGO:00156319.3PRNP, STMN2, TPPP3
5identical protein bindingGO:00428028.8APOE, CRYAB, CST3, PRNP, S100B, SYP

Sources for Creutzfeldt-Jakob Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet