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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 37MedGen, 38MedlinePlus, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Creutzfeldt-Jakob Disease:

Name: Creutzfeldt-Jakob Disease 52 11 48 49 70 12 50 38 13 68
Variant Creutzfeldt-Jakob Disease 11 48 27 2 13
Cjd 11 48 70
Encephalopathy, Bovine Spongiform 39 68
Bovine Spongiform Encephalopathy 11 2
Creutzfeldt-Jacob Disease 11 48
Creutzfeldt Jakob Disease 11 48
Vcjd 48 2
New Variant Creutzfeldt-Jakob Disease 68
Creutzfeldt-Jakob Disease, Sporadic 68
Inherited Creutzfeldt-Jakob Disease 54
Creutzfeldt-Jakob Disease, Variant 52
Acquired Creutzfeldt-Jakob Disease 54
Subacute Spongiform Encephalopathy 11
 
Sporadic Creutzfeldt-Jakob Disease 54
Variant Creutzfeldt-Jacob Disease 48
Encephalopathy Bovine Spongiform 50
Transmissible Virus Dementia 11
Creutzfeldt Jacob Syndrome 11
Creutzfeldt-Jakob Syndrome 39
Jakob-Creutzfeldt Disease 11
Creutzfeldt Jacob Disease 48
New Variant of Cjd 48
Inherited Cjd 54
Sporadic Cjd 54
Acquired Cjd 68
Variant Cjd 48
Nv-Cjd 48

Characteristics:

Orphanet epidemiological data:

54
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:

64
creutzfeldt-jakob disease:
Inheritance: autosomal dominant inheritance
Onset and clinical course: rapidly progressive

Classifications:



External Ids:

OMIM52 123400
Disease Ontology11 DOID:11949, DOID:5435
ICD1030 A81.0, A81.00
ICD9CM32 046.1
NCIt45 C26802
MESH via Orphanet40 D007562
UMLS via Orphanet69 C0022336
ICD10 via Orphanet31 A81.0

Summaries for Creutzfeldt-Jakob Disease

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NIH Rare Diseases:48 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:70 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:38 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:49 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:52 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 & Phenotypes 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:

 64 (show all 19)
id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 supranuclear gaze palsy64 HP:0000605
3 depression64 HP:0000716
4 dementia64 HP:0000726
5 irritability64 HP:0000737
6 hallucinations64 HP:0000738
7 anxiety64 HP:0000739
8 apathy64 HP:0000741
9 delusions64 HP:0000746
10 personality changes64 HP:0000751
11 hemiparesis64 HP:0001269
12 confusion64 HP:0001289
13 myoclonus64 HP:0001336
14 gait ataxia64 HP:0002066
15 memory impairment64 HP:0002354
16 aphasia64 HP:0002381
17 increased csf protein64 HP:0002922
18 loss of facial expression64 HP:0005327
19 extrapyramidal muscular rigidity64 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

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

41
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

Drugs & Therapeutics for Creutzfeldt-Jakob Disease

About this section

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 Disease27

Anatomical Context for Creutzfeldt-Jakob Disease

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MalaCards organs/tissues related to Creutzfeldt-Jakob Disease:

36
Brain, Testes, Cerebellum, Tonsil, Cortex, Spleen, Appendix

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
Rapid testing for Creutzfeldt-Jakob disease in donors of cornea. (28072756)
2017
4
Imaging of Creutzfeldt-Jakob Disease: Imaging Patterns and Their Differential Diagnosis. (28076012)
2017
5
Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients. (27612591)
2016
6
Proteome Analysis of Potential Synaptic Vesicle Cycle Biomarkers in the Cerebrospinal Fluid of Patients with Sporadic Creutzfeldt-Jakob Disease. (27562179)
2016
7
Creutzfeldt-Jakob disease. (28028861)
2016
8
Sporadic Creutzfeldt-Jakob disease with unusual initial presentation as posterior reversible encephalopathy syndrome: a case report. (27876002)
2016
9
Autoimmune encephalitis mimicking sporadic Creutzfeldt-Jakob disease: A retrospective study. (27235341)
2016
10
Dura mater graft-associated Creutzfeldt-Jakob disease with 30-year incubation period. (27925304)
2016
11
Sporadic Creutzfeldt Jakob disease. (27147142)
2016
12
Detection of prions in the plasma of presymptomatic and symptomatic patients with variant Creutzfeldt-Jakob disease. (28003547)
2016
13
Alpha-, beta- and gamma-synuclein quantification in cerebrospinal fluid by multiple reaction monitoring reveals increased concentrations in Alzheimer's and Creutzfeldt-Jakob disease but no alteration in synucleinopathies. (27507836)
2016
14
Understanding Creutzfeldt-Jakob disease. (26910089)
2016
15
A case of pure autotopagnosia following Creutzfeldt-Jakob disease. (27910737)
2016
16
Visual art therapy in sporadic Creutzfeldt-Jakob disease: a case study. (26782687)
2016
17
Creutzfeldt-Jakob Disease Presenting With Dizziness and Gaze-Evoked Nystagmus: A Case Report. (26886621)
2016
18
Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease. (26806765)
2016
19
A New Standard for the Laboratory Diagnosis of Sporadic Creutzfeldt-Jakob Disease. (27942712)
2016
20
Sporadic Creutzfeldt-Jakob disease diagnostic accuracy is improved by a new CSF ELISA 14-3-3I^ assay. (26940479)
2016
21
Cerebrospinal Fluid Biomarkers in the Diagnosis of Creutzfeldt-Jakob Disease in Slovak Patients: over 10-Year Period Review. (27665282)
2016
22
Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study. (27055460)
2016
23
Heidenhain variant of Creutzfeldt-Jakob disease in a patient who had bovine bioprosthetic valve implantation. (27905341)
2016
24
An autopsy-verified case of FTLD-TDP type A with upper motor neuron-predominant motor neuron disease mimicking MM2-thalamic-type sporadic Creutzfeldt-Jakob disease. (27929803)
2016
25
Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease. (27929120)
2016
26
Systematic reviews in paediatric multiple sclerosis and Creutzfeldt-Jakob disease exemplify shortcomings in methods used to evaluate therapies in rare conditions. (26897367)
2016
27
Role of the biomarkers for the diagnosis of Creutzfeldt-Jakob disease. (27453757)
2016
28
Muscle atrophy and fasciculations as a manifestation of sporadic Creutzfeldt-Jakob disease: A case report. (27461184)
2016
29
Detection of prions in blood from patients with variant Creutzfeldt-Jakob disease. (28003548)
2016
30
A Case of Creutzfeldt-Jakob Disease Presenting as Catatonia. (27464324)
2016
31
Corticobasal syndrome due to sporadic Creutzfeldt-Jakob disease: a review and neuropsychological case report. (27871202)
2016
32
Analysis of conformational stability of abnormal prion protein aggregates across the spectrum of Creutzfeldt-Jakob disease prions. (27122583)
2016
33
Positive 14-3-3 and tau proteins in a sporadic Creutzfeldt-Jakob disease case and a brief perspective of prion diseases in Colombia. (27622622)
2016
34
Molecular Alterations in the Cerebellum of Sporadic Creutzfeldt-Jakob Disease Subtypes with DJ-1 as a Key Regulator of Oxidative Stress. (27975168)
2016
35
Distinctive properties of plaque-type dura mater graft-associated Creutzfeldt-Jakob disease in cell-protein misfolding cyclic amplification. (26878132)
2016
36
Clinical and MRI evaluation of anxiety as the first symptom of sporadic Creutzfeldt-Jakob disease: A case report. (27073474)
2016
37
Correction: The Distribution of Prion Protein Allotypes Differs Between Sporadic and Iatrogenic Creutzfeldt-Jakob Disease Patients. (26954665)
2016
38
Subacute progressive aphasia: a rare presentation of Creutzfeldt-Jakob disease. (26872666)
2016
39
Long-term preclinical magnetic resonance imaging alterations in sporadic Creutzfeldt-Jakob disease. (27501375)
2016
40
Early pathology in sleep studies of patients with familial Creutzfeldt-Jakob disease. (27251902)
2016
41
Validation of 14-3-3 Protein as a Marker in Sporadic Creutzfeldt-Jakob Disease Diagnostic. (25947081)
2016
42
Clinical radiological correlation in E200K familial Creutzfeldt-Jakob disease. (27624725)
2016
43
A hospital-based registry of Creutzfeldt-Jakob disease: Can neuroimaging serve as a surrogate biomarker? (27147147)
2016
44
CSF tau correlates with the degree of cortical involvement in E200K familial Creutzfeldt-Jakob disease. (27721036)
2016
45
Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing. (27929804)
2016
46
Clinical Trial Simulations Based on Genetic Stratification and the Natural History of a Functional Outcome Measure in Creutzfeldt-Jakob Disease. (26902324)
2016
47
Biomarkers for sporadic Creutzfeldt-Jakob disease. (27547775)
2016
48
Regulation of human cerebrospinal fluid malate dehydrogenase 1 in sporadic Creutzfeldt-Jakob disease patients. (27852982)
2016
49
Guinea pig prion protein supports rapid propagation of bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease prions. (27440899)
2016
50
Patient with rapidly evolving neurological disease with neuropathological lesions of Creutzfeldt-Jakob disease, Lewy body dementia, chronic subcortical vascular encephalopathy and meningothelial meningioma. (27634418)
2016

Variations for Creutzfeldt-Jakob Disease

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

70
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:004329210.7CRYAB, CST3
2anchored component of membraneGO:003122510.7PRND, PRNP, SPRN
3axonGO:00304249.1CRYAB, CST3, MAPT, PVALB, STMN2
4vesicleGO:00319828.9CST3, SNAP25, SPRN, STMN2
5neuronal cell bodyGO:00430258.3APOE, CST3, ENO2, PVALB, RPSA, S100B
6membraneGO:00160207.9APOE, EIF2AK2, HLA-DQB1, PRNP, RPSA, SNAP25
7cytoplasmGO:00057376.3APOE, 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:000687810.5PRND, PRNP
2negative regulation of intracellular transportGO:003238710.2CRYAB, 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
1lipoprotein particle bindingGO:007181310.5APOE, MAPT
2tau protein bindingGO:004815610.4APOE, S100B
3calcium-dependent protein bindingGO:00483069.8S100B, SNAP25, STMN2
4identical protein bindingGO:00428029.3APOE, CRYAB, CST3, PRNP, S100B, SYP
5tubulin bindingGO:00156319.0PRNP, STMN2, TPPP3

Sources for 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